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2. scX: A user-friendly tool for scRNA-seq exploration

Author

Waichman, Tomás Vega, Vercesi, M. Luz, Berardino, Ariel A., Beckel, Maximiliano S., Giacomini, Damiana, Rasetto, Natalí B., Herrero, Magalí, Di Bella, Daniela J., Arlotta, Paola, Schinder, Alejandro F., and Chernomoretz, Ariel

Subjects
Quantitative Biology - Genomics
Abstract

Single-cell RNA sequencing (scRNA-seq) has transformed our ability to explore biological systems. Nevertheless, proficient expertise is essential for handling and interpreting the data. In this paper, we present scX, an R package built on the Shiny framework that streamlines the analysis, exploration, and visualization of single-cell experiments. With an interactive graphic interface, implemented as a web application, scX provides easy access to key scRNAseq analyses, including marker identification, gene expression profiling, and differential gene expression analysis. Additionally, scX seamlessly integrates with commonly used single-cell Seurat and SingleCellExperiment R objects, resulting in efficient processing and visualization of varied datasets. Overall, scX serves as a valuable and user-friendly tool for effortless exploration and sharing of single-cell data, simplifying some of the complexities inherent in scRNAseq analysis., Comment: 10 pages, 2 figures. Source code can be downloaded from https://github.com/chernolabs/scX. User manual available at https://chernolabs.github.io/scX/. Docker image available from dockerhub as chernolabs/scx

Published
2023

3. Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders

Author

Cozzi, Marta, Magri, Stefania, Tedesco, Barbara, Patelli, Guglielmo, Ferrari, Veronica, Casarotto, Elena, Chierichetti, Marta, Pramaggiore, Paola, Cornaggia, Laura, Piccolella, Margherita, Galbiati, Mariarita, Rusmini, Paola, Crippa, Valeria, Mandrioli, Jessica, Pareyson, Davide, Pisciotta, Chiara, D’Arrigo, Stefano, Ratti, Antonia, Nanetti, Lorenzo, Mariotti, Caterina, Sarto, Elisa, Pensato, Viviana, Gellera, Cinzia, Di Bella, Daniela, Cristofani, Riccardo M., Taroni, Franco, and Poletti, Angelo

Published
2024
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4. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Author

Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, and Durr, Alexandra

Published
2023
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5. Genetic dissection of the glutamatergic neuron system in cerebral cortex

Author

Matho, Katherine S., Huilgol, Dhananjay, Galbavy, William, He, Miao, Kim, Gukhan, An, Xu, Lu, Jiangteng, Wu, Priscilla, Di Bella, Daniela J., Shetty, Ashwin S., Palaniswamy, Ramesh, Hatfield, Joshua, Raudales, Ricardo, Narasimhan, Arun, Gamache, Eric, Levine, Jesse M., Tucciarone, Jason, Szelenyi, Eric, Harris, Julie A., Mitra, Partha P., Osten, Pavel, Arlotta, Paola, and Huang, Z. Josh

Published
2021
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6. Molecular logic of cellular diversification in the mouse cerebral cortex

Author

Di Bella, Daniela J., Habibi, Ehsan, Stickels, Robert R., Scalia, Gabriele, Brown, Juliana, Yadollahpour, Payman, Yang, Sung Min, Abbate, Catherine, Biancalani, Tommasso, Macosko, Evan Z., Chen, Fei, Regev, Aviv, and Arlotta, Paola

Subjects
Brain research, Cerebral cortex -- Physiological aspects, Cell differentiation -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

The mammalian cerebral cortex has an unparalleled diversity of cell types, which are generated during development through a series of temporally orchestrated events that are under tight evolutionary constraint and are critical for proper cortical assembly and function.sup.1,2. However, the molecular logic that governs the establishment and organization of cortical cell types remains unknown, largely due to the large number of cell classes that undergo dynamic cell-state transitions over extended developmental timelines. Here we generate a comprehensive atlas of the developing mouse neocortex, using single-cell RNA sequencing and single-cell assay for transposase-accessible chromatin using sequencing. We sampled the neocortex every day throughout embryonic corticogenesis and at early postnatal ages, and complemented the sequencing data with a spatial transcriptomics time course. We computationally reconstruct developmental trajectories across the diversity of cortical cell classes, and infer their spatial organization and the gene regulatory programs that accompany their lineage bifurcation decisions and differentiation trajectories. Finally, we demonstrate how this developmental map pinpoints the origin of lineage-specific developmental abnormalities that are linked to aberrant corticogenesis in mutant mice. The data provide a global picture of the regulatory mechanisms that govern cellular diversification in the neocortex. A single-cell atlas of the developing mouse cortex provides a temporal and spatial assessment of the molecular logic that drives the establishment and organization of cortical cell types., Author(s): Daniela J. Di Bella [sup.1] [sup.2] , Ehsan Habibi [sup.1] [sup.3] , Robert R. Stickels [sup.2] , Gabriele Scalia [sup.3] , Juliana Brown [sup.1] [sup.2] , Payman Yadollahpour [sup.3] [...]

Published
2021
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12. Diseño, Arte y Transmedia

Author

Di Bella, Daniela V, Altamirano, Otniel, Di Bella, Daniela V, and Altamirano, Otniel

Published
2024

15. Diseño, Innovación y Transdisciplinariedad III: Biodiseño y producción en tiempos de crisis

Author

Di Bella, Daniela V, Vieira de Arruda, Amilton José, Langella, Carla, Di Bella, Daniela V, Vieira de Arruda, Amilton José, and Langella, Carla

Abstract

El Proyecto de Investigación 4.11 centra el foco en los avances del Diseño en su relación con los campos sociales de las Ciencias, escenario que viene representando una interpelación vertiginosa que sitúa el vínculo sobre exigencias transdisciplinares, la experimentación en laboratorios de Diseño, y la investigación colaborativa. En esta oportunidad estas condiciones se unen al panorama de inestabilidad y fragilidad políticoeconómica derivada de los acontecimientos recientes como la pandemia y el conflicto Rusia_Ucrania, cuyos impactos están conduciendo hacia nuevos esquemas de diseño, producción y consumo basados en el ingenio, la biociencia, la proximidad, la autonomía y la auto-organización que intentan integrar la investigación de laboratorios científicos avanzados con las experiencias espontáneas e intuitivas de la cultura maker y DIY (Do It Yourself). Estas experiencias se convierten en la base de nuevos futuros posibles y sostenibles en sectores biotecnológicos de cruce del Diseño con la biología sintética y la biomimética. Este nuevo escenario se presenta complejo y de rápida evolución, donde el Diseño está llamado a reinterpretar los objetos y entornos de la vida cotidiana (doméstica, laboral y pública), diseñando un nuevo universo de objetos intermedios entre la dimensión sintética y la orgánica.

Published
2024

16. Aprendizaje Bioinspirado: El Diseño como disciplina y como proceso

Author

Di Bella, Daniela V, Estévez, Alberto T., Di Bella, Daniela V, and Estévez, Alberto T.

Abstract

El Proyecto de Investigación 4.10 investiga como la naturaleza siempre ha sido territorio de múltiples y diversas inspiraciones formales, funcionales, significativas y heurísticas capaces de generar nuevas y efectivas soluciones, estudios y teorías, dentro del campo del Diseño, la Arquitectura y el Urbanismo. La Bioinspiración, y por tanto el Bioaprendizaje, atraviesan las ideas que abordan al Diseño como disciplina y como proceso, cruzando temas como organicismo, permacultura, biomorfismo, biomímesis, biónica, biofilia, capitalismo natural, economía circular, ecología material, entre otros que orientan conquistas, búsquedas y objetivos en innovación de sistemas, procesos y productos. Este escenario viene representando una interpelación vertiginosa hacia la experimentación e investigación colaborativa multidisciplinar, en laboratorios de Diseño y Arquitectura, de acuerdo a objetivos de aprendizaje bioinspirado, que guían procesos y relaciones de Diseño en vínculo con la Naturaleza, la Biología y la Tecnología orientados por premisas sostenibles y regenerativas.

Published
2024

20. Diseño, Innovación y Transdisciplinariedad II: Relaciones del Diseño con la Naturaleza, la Biología y la Tecnología

Author

Di Bella, Daniela V, Vieira de Arruda, Amilton José, Langella, Carla, Di Bella, Daniela V, Vieira de Arruda, Amilton José, and Langella, Carla

Abstract

El Proyecto de Investigación 4.7 revisa la evolución de distintos proyectos bio-inspirados según el estado actual del arte, de acuerdo a cuatro ejes orientadores: (a) Aspectos transdisciplinares y pedagógicos, (b) Aspectos estratégicos y de innovación, (c) Aspectos de diseño y naturaleza, y (d) Aspectos de diseño y tecnología, en el que se ubican los aportes colaborativos de investigadores del Diseño, la Arquitectura, la Biología, la Ingeniería y las disciplinas digitales, cuyas investigaciones constituyen su camino evolutivo, y una oportunidad para anticipar y debatir sobre Diseño y Futuro.

Published
2023

21. Incubadora de Proyectos de Investigación 1°Edición 2022

Author

Di Bella, Daniela V and Di Bella, Daniela V

Abstract

Se presenta a la Incubadora de Proyectos de Investigación. Esta se constituye en un espacio de generación, desarrollo y concreción de nuevos Proyectos de Investigación de carácter interinstitucional y de alcance nacional e internacional, pertenece al Instituto de Investigación en Diseño de la Universidad de Palermo y su accionar refuerza el reconocimiento y liderazgo alcanzado -con los innumerables emprendimientos realizados por la Facultad de Diseño y Comunicación- en el impulso sostenido a la creación de conocimiento en el campo del diseño desde una perspectiva interdisciplinaria y colaborativa.

Published
2023

22. Visiones del Diseño V. Diseño y Antropoceno: Desafíos sostenibles, resilientes y regenerativos

Author

Di Bella, Daniela V, Irwin, Terry, Di Bella, Daniela V, and Irwin, Terry

Abstract

El Proyecto de Investigación 4.5 Investiga acerca del diseño, la arquitectura, el urbanismo y el arte como fundamentales en toda actividad humana, en relación con que representan el nexo de valores, actitudes, necesidades y acciones de modificación. Como modificadores del mundo, somos parte activa de la mayoría de las crisis sociales y ambientales definidas por el Antropoceno, ya que nuestras prácticas son parte de un modelo reduccionista y han sido pensadas para un contexto que ya no existe, y cuyas ideas se basan en gran medida en la separación entre cultura y naturaleza. La creación de “nuevos estilos de vida sostenibles” podría ser la clave que les permita actuar como integradores-facilitadores transdisciplinarios y agentes de cambio socio-ecológico hacia mejores escenarios futuros. El Diseño puede actuar como un factor de modificación del mundo, interpretando las complejidades de la experiencia humana y por lo tanto puede operar influyendo y orientando los comportamientos sociales, de forma sostenible, resiliente y regenerativa.

Published
2023

26. Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene

Author

Santangelo, Serena, primary, Bossolasco, Patrizia, additional, Magri, Stefania, additional, Colombrita, Claudia, additional, Invernizzi, Sabrina, additional, Gellera, Cinzia, additional, Nanetti, Lorenzo, additional, Di Bella, Daniela, additional, Silani, Vincenzo, additional, Taroni, Franco, additional, and Ratti, Antonia, additional

Published
2023
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27. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Author

Nanetti, L, Di Bella, D, Magri, S, Fichera, M, Sarto, E, Castaldo, A, Mongelli, A, Baratta, S, Fenu, S, Moscatelli, M, Bonati, M, Martinuzzi, A, Mariotti, C, Taroni, F, Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Fichera, Mario, Sarto, Elisa, Castaldo, Anna, Mongelli, Alessia, Baratta, Silvia, Fenu, Silvia, Moscatelli, Marco, Bonati, Maria Teresa, Martinuzzi, Andrea, Mariotti, Caterina, Taroni, Franco, Nanetti, L, Di Bella, D, Magri, S, Fichera, M, Sarto, E, Castaldo, A, Mongelli, A, Baratta, S, Fenu, S, Moscatelli, M, Bonati, M, Martinuzzi, A, Mariotti, C, Taroni, F, Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Fichera, Mario, Sarto, Elisa, Castaldo, Anna, Mongelli, Alessia, Baratta, Silvia, Fenu, Silvia, Moscatelli, Marco, Bonati, Maria Teresa, Martinuzzi, Andrea, Mariotti, Caterina, and Taroni, Franco

Abstract

A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc Farlane, and Laurence—Moon syndromes. These syndromes present variable and overlapping clinical symptoms, encompassing cerebellar ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy, spastic paraplegia, muscle wasting, peripheral neuropathy, and cognitive impairment. In the present study, we performed a wide genetic screening in 292 patients presenting with ataxia or spastic paraplegia using a probe-based customized gene panel, covering >200 genes associated with spinocerebellar diseases. We identified six novel and four recurrent PNPLA6 gene variants in eight patients (2.7%). Six patients presented an infantile or juvenile onset (age <18), and two patients had an adult onset. Cerebellar ataxia was observed in seven patients and spastic paraplegia in one patient. Progression of cerebellar symptoms was slow in all patients, who retained ambulation even after a mean disease duration of 15 years. Brain MRI showed cerebellar atrophy in 6/8 patients, more pronounced in superior and dorsal vermis lobules (I to VII). Additional clinical features included hypogonadotropic hypogonadism (5/8), growth hormone deficiency (2/8), peripheral axonal neuropathy (4/8), cognitive impairment (3/8), chorioretinal dystrophy (2/8), and bilateral vestibular areflexia with a reduced visual vestibule-ocular reflex (1/8). In accordance with previous studies, chorioretinal dystrophy was the most frequent presenting symptom in early onset patients, hypogonadotropic hypogonadism in juvenile onset cases, and cerebellar ataxia in adult patients. One patient had an initial clinical presentation compatible with Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS), but no pathological expansions in the RFC1 gene. I

Published
2022

28. Diseño, Innovación y Transdisciplinariedad I: Relaciones del Diseño con la Naturaleza, la Biología y la Tecnología

Author

Di Bella, Daniela V, Vieira de Arruda, Amilton José, Langella, Carla, Di Bella, Daniela V, Vieira de Arruda, Amilton José, and Langella, Carla

Abstract

El Proyecto de Investigación 4.6 revisa la evolución de distintos proyectos bio-inspirados según el estado actual del arte, de acuerdo a cuatro ejes orientadores: (a) Aspectos transdisciplinares y pedagógicos, (b) Aspectos estratégicos y de innovación, (c) Aspectos de diseño y naturaleza, y (d) Aspectos de diseño y tecnología, en el que se ubican los aportes colaborativos de investigadores del Diseño, la Arquitectura, la Biología, la Ingeniería y las disciplinas digitales, cuyas investigaciones constituyen su camino evolutivo, y una oportunidad para anticipar y debatir sobre Diseño y Futuro.

Published
2022

29. Visiones del Diseño IV. El Diseño como Tercer Cultura

Author

Di Bella, Daniela V, Irwin, Terry, Di Bella, Daniela V, and Irwin, Terry

Abstract

El Proyecto de Investigación 4.5 explora a través de casos de estudio, cómo el Diseño se ha convertido en un fenómeno global, con un alto poder de persuasión social y cultural (Julier, 2008), y que unido a su propio modelo de pensamiento de Diseño, y la potencia de las visiones anticipatorias, puede influir sobre las transiciones sociales y técnicas hacia estilos de vida y escenarios sostenibles, de acuerdo al Diagrama Heurístico del Diseño para la Transición. Continúa el camino de las indagaciones desarrolladas en los Proyectos 4.4, 4.3, 4.2 y 4.1 Cuadernos 105, 87, 80 y 73 respectivamente, estudia como la escala de los problemas de Diseño está cambiando y cómo las urgencias y desafíos de la sostenibilidad –entendida en todas sus dimensiones– demandan al Diseño y los Diseñadores, nuevas metodologías de abordaje que permitan anticipar mejores escenarios.

Published
2022

30. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Author

Nanetti, Lorenzo, primary, Di Bella, Daniela, additional, Magri, Stefania, additional, Fichera, Mario, additional, Sarto, Elisa, additional, Castaldo, Anna, additional, Mongelli, Alessia, additional, Baratta, Silvia, additional, Fenu, Silvia, additional, Moscatelli, Marco, additional, Bonati, Maria Teresa, additional, Martinuzzi, Andrea, additional, Mariotti, Caterina, additional, and Taroni, Franco, additional

Published
2022
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31. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Author

Magri, Stefania, primary, Nanetti, Lorenzo, additional, Gellera, Cinzia, additional, Sarto, Elisa, additional, Rizzo, Elena, additional, Mongelli, Alessia, additional, Ricci, Benedetta, additional, Fancellu, Roberto, additional, Sambati, Luisa, additional, Cortelli, Pietro, additional, Brusco, Alfredo, additional, Bruzzone, Maria Grazia, additional, Mariotti, Caterina, additional, Di Bella, Daniela, additional, and Taroni, Franco, additional

Published
2022
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32. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Author

Synofzik, Matthis, Smets, Katrien, Mallaret, Martial, Di Bella, Daniela, Gallenmüller, Constanze, Baets, Jonathan, Schulze, Martin, Magri, Stefania, Sarto, Elisa, Mustafa, Mona, Deconinck, Tine, Haack, Tobias, Züchner, Stephan, Gonzalez, Michael, Timmann, Dagmar, Stendel, Claudia, Klopstock, Thomas, Durr, Alexandra, Tranchant, Christine, Sturm, Marc, Hamza, Wahiba, Nanetti, Lorenzo, Mariotti, Caterina, Koenig, Michel, Schöls, Ludger, Schüle, Rebecca, de Jonghe, Peter, Anheim, Mathieu, Taroni, Franco, and Bauer, Peter

Published
2016
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33. Perspectivas del Diseño: El Diseño en nuevos escenarios disciplinares Proyecto de Investigación N°4.1

Author

Di Bella, Daniela V, Irwin, Terry, Di Bella, Daniela V, and Irwin, Terry

Abstract

Research Project 4.1 presents the inclusion of Design for Transition, proposed by Carnegie Mellon University at the graduate level, in the curriculum of the UP Design Management Master, which has been allowing to promote a comprehensive and responsible view of design in our students, tending to wonder about the practices learned and professionals installed in the field, considering it from a systemic perspective, which reviews its contextual scenarios in all its dimensions and layers of incidence, focusing on the sustainable relationship between Society-Economy-Environment, from a reflective assessment of design and the designer as an agent of change that brings into play the concepts and challenges of this new emerging field of design. Fundamental change at every level of our society is needed to address the issues confronting us in the 21st century. Climate change, loss of biodiversity, forced migration, depletion of natural resources, and the widening gap between the rich and the por are just a few of the “wicked problems” that require new approaches to problem solving. Transition Design or “design for transition” brings together two powerful memes: (a) the idea that entire societies will need to transition toward sustainable futures, and (b) the realization that this will involve systems-level change informed by a deep understanding of the anatomy and dynamics of complex systems. This emerging field of “transition studies” now encompasses a community of international researchers from the areas of social and management sciences, engineering, activism, and related disciplines. However, contributions from the field of design and its related sub-disciplines are still relatively rare, and Transition Design seeks to address this gap. This is surprising given the degree to which design permeates socio-technical systems and is implicated in most of the wicked problems previously mentioned. This ubiquity, along with the evolution of design in recent decades to become a h, O Projeto de Pesquisa 4.1 apresenta a inclusão do Design for Transition, proposto pela Carnegie Mellon University em nível de graduação, no currículo do UP Design Management Master, o que tem permitido promover uma visão abrangente e responsável do design em nossos alunos, tendendo a se questionar sobre as práticas aprendidas e profissionais instalados no campo, considerando-o desde uma perspectiva sistêmica, que revê seus cenários contextuais em todas as suas dimensões e camadas de incidência, com foco na relação sustentável entre Sociedade-Economia-Meio Ambiente, a partir de uma avaliação reflexiva do design e do designer como agente de mudança que põe em jogo os conceitos e desafios deste novo campo emergente do design. E necessaria uma mudanca em todos os niveis de nossa sociedade para enfrentar os problemas do seculo XXI. A mudanca climatica, a perda de biodiversidade, a migracao forcada, o esgotamento dos recursos naturais e o crescente fosso entre ricos e pobres sao so alguns problemas perversos que requerem novos enfoques para a resolucao de problemas. O design de transicao ou design para a transicao reune dois conceitos poderosos: a) a ideia de que todas as sociedades necessitarao uma transicao ate um futuro sustentavel, e b) a compreensao de que isto implicara uma mudanca ao nivel do sistema informado por um profundo conhecimento da anatomia e dinamica dos sistemas complexos. Este campo emergente de estudos de transicao abarca agora uma comunidade de pesquisadores internacionais das areas de ciencias sociais e administrativas, engenharia, ativismo e disciplinas relacionadas. Entretanto, as contribuicoes do campo do design e suas subdisciplinas relacionadas sao ainda relativamente excepcionais, e o design de transicao procura abordar este fosso. Isto e surpreendente pelo grau em que o design impregna os sistemas socio tecnicos e esta presente na maioria dos problemas perversos mencionados. Esta ubiquidade, junto com a evolucao do design nas ultimas decadas, El Proyecto de Investigación 4.1 presenta la inclusión del Diseño para la Transición, propuesto por la Universidad Carnegie Mellon a nivel de posgrado, en la currícula de la Maestría en Gestión del Diseño UP, lo que viene permitiendo promover una mirada integral y responsable del diseño en nuestros estudiantes, tendiente a preguntarse sobre las prácticas aprendidas y profesionales instaladas en el campo, considerándolo desde una perspectiva sistémica, que revisa sus escenarios contextuales en todas sus dimensiones y capas de incidencia, haciendo foco sobre la relación sostenible entre Sociedad-EconomíaAmbiente, desde una valoración reflexiva del diseño y El Diseñador como agente de cambio que pone en juego los conceptos y desafíos de este nuevo campo emergente del diseño. Se necesita un cambio fundamental en todos los niveles de nuestra sociedad para abordar los problemas que enfrentamos en el siglo XXI. El cambio climático, la pérdida de biodiversidad, la migración forzada, el agotamiento de los recursos naturales y la creciente brecha entre los ricos y los pobres son solo algunos de los “problemas perversos” que requieren nuevos enfoques para la resolución de problemas. El diseño para la transición, reúne dos memes poderosos: (a) la idea de que todas las sociedades necesitarán una transición hacia un futuro sostenible, y (b) la comprensión de que esto implicará un cambio a nivel del sistema informado por un profundo conocimiento de la anatomía y dinámica de los sistemas complejos. Este campo emergente de “estudios sobre la transición” ahora abarca una comunidad de investigadores internacionales de las áreas de ciencias sociales y administrativas, ingeniería, activismo y disciplinas relacionadas. Sin embargo, las contribuciones del campo del diseño y sus subdisciplinas, todavía son relativamente raras, y el diseño para la transición busca abordar esta brecha. Esto es sorprendente dado el grado en que el diseño impregna los sistemas socio-técnicos y está implicado e

Published
2021

34. Visiones del Diseño I: El Diseñador como agente de cambio Proyecto de Investigación N°4.2

Author

Di Bella, Daniela V, Irwin, Terry, Di Bella, Daniela V, and Irwin, Terry

Abstract

O Projeto de Pesquisa 4.2 sustenta que o design está atualmente inserido em cenários de múltiplas complexidades que requerem profissionais com forte conhecimento das implicações de sua disciplina e ampla capacidade reflexiva. Neste contexto, investiga o estado atual do Design a partir de quatro categorias temáticas que abrangem alguns dos cenários contemporâneos da disciplina na região, relacionadas com (a) reflexões sobre design, (b) design sustentável, (c) transição para a sustentabilidade e (d) Projeto para a transição. A seção (d) Desenho para Transição, analisa um relatório de impacto retrospectivo e contínuo da implementação do Primeiro Projeto de Linha de Pesquisa nº 4 denominado Perspectivas de Desenho, que analisa o período de 2014_2 a 2016_2 inclusive, correspondendo às comissões de a disciplina de Design IV do Mestrado em Gestão de Design, em que o projeto está a ser desenvolvido., Research Project 4.2 maintains that design is currently inserted within multiple complexity scenarios that require professionals with a strong knowledge of the implications of their discipline and a broad reflective capacity. In this context, he investigates about the current state of Design following four thematic categories that cover some of the contemporary scenarios of the discipline in the region, related to (a) reflections on design, (b) sustainable design, (c) transition towards sustainability and (d) Design for the transition. Section (d) Design for Transition, analyzes a retrospective and continuous impact report of the implementation of the First Project of Research Line No. 4 called Design Perspectives, which analyzes the period 2014_2 to 2016_2 inclusive, corresponding to the commissions of the Design IV subject of the Master in Design Management, in which the project is being developed., El Proyecto de Investigación 4.2 sostiene que el diseño en la actualidad se encuentra inserto dentro de múltiples escenarios de complejidad que requieren de profesionales de fuerte conocimiento de las implicancias de su disciplina y de una amplia capacidad reflexiva. En este contexto investiga acerca del estado actual del Diseño siguiendo cuatro categorías temáticas que cubren algunos de los escenarios contemporáneos de la disciplina en la región, relacionados con (a) reflexiones sobre diseño, (b) diseño sustentable, (c) transición hacia la sostenibilidad y (d) Diseño para la transición. El apartado (d) Diseño para la Transición, analiza un informe de impacto retrospectivo y continuo, de la implementación del Primer Proyecto de la Línea de Investigación Nº4 denominado Perspectivas del Diseño, que analiza el período 2014_2 al 2016_2 inclusive, correspondiente con las comisiones de la asignatura Diseño IV de la Maestría en Gestión del Diseño, en la que se viene desarrollando el proyecto.

Published
2021

35. Visiones del Diseño III: Problematizar el Diseño para comprender su complejidad Proyecto de Investigación N°4.4

Author

Di Bella, Daniela V, Irwin, Terry, Di Bella, Daniela V, and Irwin, Terry

Abstract

Research Project 4.4 continues the path of the inquiries developed in Projects 4.3, 4.2 and 4.1 (Cuadernos 87, 80 and 73), organized according to six thematic categories: Design for Transition, Biomimetics, Meta-design, Social Innovation, Collaborative Design and Circular Economy, studies how the scale of Design problems is changing, they are running more and more quickly from the level of objects and things (utilitarian), as well as their most decorative aspect (styling) and linking to emergencies and sustainability challenges –understood in all its dimensions– which demand from Design and Designers new approach methodologies that allow anticipating better scenarios., O Projeto de Pesquisa 4.4 dá continuidade às investigações desenvolvidas nos Projetos 4.3, 4.2 e 4.1 (Cadernos 87, 80 e 73), organizados em seis categorias temáticas: Design para a Transição, Biomimética, Meta-design, Inovação Social, Design Colaborativo e A Economia Circular, estuda como a escala dos problemas de Design está mudando, eles estão correndo cada vez mais rapidamente desde o nível de objetos e coisas (utilitários), bem como seu aspecto mais decorativo (estilização) e vinculando a emergências e os desafios da sustentabilidade - compreendidos em todas as suas dimensões - que exigem dos Design e Designers novas metodologias de abordagem que permitam antecipar melhores cenários., El Proyecto de Investigación 4.4 continúa el camino de las indagaciones desarrolladas en los Proyectos 4.3, 4.2 y 4.1 Cuadernos 87, 80 y 73 respectivamente, organizado de acuerdo a seis categorías temáticas: Diseño para la Transición, Biomimética, Metadiseño, Innovación Social, Diseño Colaborativo y Economía Circular. Estudia como la escala de los problemas de Diseño está cambiando, se están corriendo de manera cada vez más veloz del nivel de los objetos y las cosas (utilitarios), como de su aspecto más decorativo (estilismo) y vinculándose a las urgencias y desafíos de la sostenibilidad –entendida en todas sus dimensiones– las que demandan al Diseño y los Diseñadores, nuevas metodologías de abordaje que permitan anticipar mejores escenarios.

Published
2021

36. Visiones del Diseño II: Diseñadores Eco-Sociales

Author

Di Bella, Daniela V, Irwin, Terry, Di Bella, Daniela V, and Irwin, Terry

Abstract

Research Project 4.3 aims to investigate the diagnostic and / or propositional scenarios that move within the main problems of the project and disciplinary field, related to the demands that contemporary design faces. It reflects on five thematic categories that cover some of the current and projective demands of local and global design related: Design for Transition, Ecomaterials, Design Theory, Strategic Design and the Circular Economy. It is divided into two parts (a) The Designer as an agent of change initiated in Project 4.2, fundamentally with the Impact Report of the Implementation of the Experience Design in Perspective (Cuaderno 80: 173-239); and (b) with the opening of Project 4.3 whose explorations base their name on the idea of developing potentially useful lenses for developing visions of sustainable futures., O Projeto de Pesquisa 4.3 visa investigar os cenários diagnósticos e / ou proposicionais que se movem dentro dos principais problemas do campo do projeto e disciplinar, relacionados às demandas que o design contemporâneo enfrenta. Reflete sobre cinco categorias temáticas que cobrem algumas das demandas atuais e projetivas do design local e global relacionadas: Design para Transição, Ecomateriais, Teoria do Design, Design Estratégico e Economia Circular. Está dividido em duas partes (a) O Designer como agente de mudança iniciado no Projeto 4.2, fundamentalmente com o Relatório de Impacto da Implementação do Projeto de Experiência em Perspectiva (Caderno 80: 173- 239); e (b) com a abertura do Projeto 4.3 cujas explorações baseiam seu nome na ideia de desenvolver lentes potencialmente úteis para desenvolver visões de futuros sustentáveis., El Proyecto de Investigación 4.3 pretende indagar sobre los panoramas diagnósticos y/o propositivos que se mueven dentro de las principales problemáticas del campo proyectual y disciplinar, relacionados con las demandas a las que se enfrenta el diseño en la contemporaneidad. Reflexiona sobre cinco categorías temáticas que cubren algunas de las demandas actuales y proyectivas del diseño del plano local y global relacionadas: el Diseño para la Transición, los Ecomateriales, la Teoría del Diseño, el Diseño Estratégico y la Economía Circular. Se articula en dos partes (a) El Diseñador como agente de cambio iniciado en el Proyecto 4.2 fundamentalmente con el Informe de Impacto de la Implementación de la Experiencia Diseño en Perspectiva (Cuaderno 80: 173-239); y (b) con la apertura del Proyecto 4.3 cuyas exploraciones basan su nombre en la idea del desarrollo de lentes potencialmente útiles para el desarrollo de visiones de futuros sostenibles.

Published
2021

37. El Diseño como Tercer Cultura 5ºProyecto de la Línea de Investigación Nº4 Diseño en Perspectiva (CMU-UP)

Author

Di Bella, Daniela V and Di Bella, Daniela V

Abstract

Design has become a global phenomenon, with a high power of social and cultural persuasion (Julier, 2008), which together with its own modeling of the type of thinking that the design has, and the power of anticipatory visions, can influence the social and technical transitions towards sustainable lifestyles and settings. This publication is the fifth Journal of Research Line Nº4 Design in Perspective, Design Scenarios, and belongs to Project Nº5 called Visions of Design: Design as a Third Culture. It continues the inquiries cited from the most recent: Problematize Design to Understand its Complexity (Project 4: Journal 105. Di Bella, 2020: 95-123) and the need to problematize Design as part of the systemic understanding of its nature, its impacts, and the change of scale of problems in Design Management; Eco-Social Designers, and the exploration of potentially useful lenses for the development of visions of sustainable futures (Project 3: Journal 87. Di Bella, 2019: 55-104), The Designer as an agent of change (Project 2: Journal 80. Di Bella, 2018: 173-239 and Project 1: Journal 73. Irwin and Di Bella, 2017). It continues the path of reflection and research linked to the Transition Design Program of Carnegie Mellon University, within the Master in Design Management-UP along with its joint publication actions and shared direction that opens a fifth study period of the implementation of the Experience., O design tornou-se um fenômeno global, com alto poder de persuasão social e cultural (Julier, 2008), que, juntamente com seu próprio modelo de pensamento de design, e o poder de visões antecipatórias, podem influenciar as transições sociais e técnicas em direção à sustentabilidade. estilos de vida e configurações. Esta publicação é o quinto Caderno da Linha de Pesquisa Nº4 Design em Perspectiva, Cenários de Design, e pertence ao Projeto Nº5 denominado Visões do Design: O Design como Terceira Cultura. Dá continuidade às indagações citadas do mais recente: Problematizar o Design para Entender sua Complexidade (Projeto 4: Caderno 105. Di Bella, 2020: 95-123) e a necessidade de problematizar o Design como parte da compreensão sistêmica de sua natureza, seus impactos , e a mudança de escala de problemas em Design Management; Eco-Social De-signers, e a exploração de lentes potencialmente úteis para o desenvolvimento de visões de futuros sustentáveis (Projeto 3: Caderno 87. Di Bella, 2019: 55-104), O Designer como um agente de mudança (Projeto 2: Caderno 80 . Di Bella, 2018: 173-239 e Projeto 1: Caderno 73. Irwin e Di Bella, 2017). Continua o caminho de reflexão e pesquisa vinculado ao Transition Design Program da Carnegie Mellon University, no âmbito do Master in Design Management-UP juntamente com as suas ações de publicação conjunta e direção compartilhada que abre um quinto período de estudo da implementação da Experiência., El Diseño se ha convertido en un fenómeno global, con un alto poder de persuasión social y cultural (Julier, 2008), que junto a su propio modelo de pensamiento de Diseño, y la potencia de las visiones anticipatorias, puede influir sobre las transiciones sociales y técnicas hacia estilos de vida y escenarios sostenibles. La presente publicación es el quinto Cuaderno de la Línea de investigación Nº4 Diseño en Perspectiva, Escenarios del Diseño, y pertenece al Proyecto Nº5 denominado Visiones del Diseño: El Diseño como Tercer Cultura. Continúa las indagaciones citadas desde la más reciente: Problematizar el Diseño para Comprender su Complejidad (Proyecto 4: Cuaderno 105. Di Bella, 2020: 95- 123) y la necesidad de problematizar al Diseño como parte de la comprensión sistémica de su naturaleza, sus impactos, y del cambio de escala de los problemas en la Gestión de Diseño; Diseñadores Eco-Sociales, y la exploración de lentes potencialmente útiles para el desarrollo de visiones de futuros sostenibles (Proyecto 3: Cuaderno 87. Di Bella, 2019: 55- 104), El Diseñador como agente de cambio (Proyecto 2: Cuaderno 80. Di Bella, 2018: 173- 239 y Proyecto 1: Cuaderno 73. Irwin y Di Bella, 2017). Continúa el camino de reflexión e investigación vinculado al Programa Transition Design de la Universidad Carnegie Mellon, dentro de la Maestría en Gestión del Diseño-UP junto con sus acciones de publicación conjunta y dirección compartida que abre un quinto período de estudio de la implementación de la Experiencia.

Published
2021

41. Visionarios del Diseño. Visiones del Diseño, Diseñadores Eco-Sociales. 3ºProyecto de la Línea de Investigación Nº4 Diseño en Perspectiva (CMU-UP)

Author

Di Bella, Daniela V and Di Bella, Daniela V

Abstract

Este Caderno é o terceiro da linha de investigação Nº 4 Design em Perspectiva, Cenários do Design y pertence ao Projeto Nº 3 Visões do Design: Designers Eco – Sociais. Visões do Design começou pelos resultados obtidos e expressados no Informe de Impacto da Experiência Design em Perspectiva publicado no Caderno 80 e baseia seu nome na ideia de “lentes” potencialmente úteis para o desenvolvimento de visões de futuros sus-tentáveis (Thackara, 2005, 1-8; Lockton y Candy, 2018). Indaga sobre os panoramas diag-nósticos e/ou propositivos que se movem dentro das principais problemáticas do campo projetual e disciplinar, relacionados com as demandas às que se enfrenta hoje o design. Visões do Design articula-se em duas partes: a) O designer como agente de transformação iniciado no Caderno 80, fundamentalmente com o informe de Impacto da Implementa-ção da Experiência Design em Perspectiva (Di Bella, 2020, 173-239) e b) com a apertura do 3º Projeto Designers Eco - Sociais, cuias explorações se fazem visíveis neste Caderno. Visões do Design segue o caminho de reflexão e pesquisa vinculado ao Programa Tran-sition Design - CMU dentro da Mestria em Gestão do Design - UP (que a Universidade desenvolve ao nível de Doutorado e Mestria em EEUU), junto com as ações de publicação conjunta e direção compartilhada, que abre um segundo período de estudo da implemen-tação do Projeto (lapso 2018-2020)., This publication is the third Journal of the Research Line Nº4 Design in Perspective, Design Scenarios, and belongs to Project Nº3 called Visions of Design: Eco-Social Designers. Visions of Design started from the auspicious results obtained and expressed in the Impact Report of the Design Experience in Perspective published in the Journal 80, and bases its name on the idea of “lenses” potentially useful for the development of visions of sustainable futures (Thackara, 2005: 1-8, Lockton and Candy, 2018). It aims to investigate the diagnostic and proactive scenarios that move within the main problems of the design and disciplinary field, related to the demands facing design in the contemporary world. Visions of Design, is articulated in two parts (a) The Designer as agent of change initiated in the Journal 80 fundamentally with the Impact Report of the Implementation of the Experience Design in Perspective (Di Bella, 2020: 173-239); and (b) with the opening of the 3rd Eco-Social Designers Project whose explorations are visible in this Journal. Visions of Design, continues the path of reflection and research linked to the Transition Design Program - CMU, within the Master’s Degree in Design Management-UP (which the CMU University develops at Phd. and Master’s level in the USA), along with its actions of joint publication and shared direction, which opens a second period of study of the implementation of the Project (Period: 2019-2022)., La presente publicación es el tercer Cuaderno de la Línea de investigación Nº4 Diseño en Perspectiva, Escenarios del Diseño, y pertenece al Proyecto Nº3 denominado Visiones del Diseño: Diseñadores Eco-Sociales. Visiones del Diseño tuvo comienzo a partir de los auspiciosos resultados obtenidos y expresados en el Informe de Impacto de la Experiencia Diseño en Perspectiva publicados en el Cuaderno 80, y basa su nombre en la idea de “lentes” potencialmente útiles para el desarrollo de visiones de futuros sostenibles (Thackara, 2005: 1-8; Lockton y Candy, 2018). Pretende indagar sobre los panoramas diagnósticos y/o propositivos que se mueven dentro de las principales problemáticas del campo proyectual y disciplinar, relacionados con las demandas a las que se enfrenta el diseño en la contemporaneidad. Visiones del Diseño, se articula en dos partes (a) El Diseñador como agente de cambio iniciado en el Cuaderno 80 fundamentalmente con el Informe de Impacto de la Implementación de la Experiencia Diseño en Perspectiva (Di Bella, 2020: 173-239); y (b) con la apertura del 3º Proyecto Diseñadores Eco-Sociales, donde algunas de sus exploraciones se visibilizan en el presente Cuaderno. Visiones del Diseño, continúa el camino de reflexión e investigación vinculado al Programa Transition Design - CMU, dentro de la Maestría en Gestión del Diseño-UP (que esta prestigiosa Universidad desarrolla a nivel de Doctorado y Maestría en EEUU), junto con sus acciones de publicación conjunta y dirección compartida, que abre un segundo período de estudio de la implementación del Proyecto (Lapso 2019-2022).

Published
2020

42. Problematizar el Diseño para comprender su complejidad. 4º Proyecto de la Línea de Investigación Nº4 Diseño en Perspectiva (CMU-UP)

Author

Di Bella, Daniela V and Di Bella, Daniela V

Abstract

This publication is the fourth Cuaderno of the Research Line No. 4 Design in Perspective, Design Scenarios, and belongs to Project No. 4 called Design Visions: Problematize Design to understand its complexity. Its continues the path of reflection and research of the Transition Design Program of Carnegie Mellon University, within the Master’s Degree in Design Management-UP (which this prestigious University develops at the Doctorate and Master’s level in the US), along with its publication actions joint and shared management, which opens a fourth period of study of the Experience implementation. The explorations developed in Visions of Design continues at (a) The Designer as agent of change (Cuaderno 80. Di Bella, 2018: 173-239) and (Cuaderno 73. Irwin and Di Bella, 2018); and (b) Eco-Social Designers, and the exploration of potentially useful “lenses” for developing visions of sustainable futures (Thackara, 2005: 1-8; Lockton and Candy, 2018) and (Cuaderno 87. Di Bella, 2019 : 55-104). The scale of the problems of Design is changing, it moving away off the level of the objects and the things (utilitarian),and of its decorative aspect (styling) since the urgencies and challenges of sustainability -understood in all its dimensions- they are demanding to Design and the Designers, a new approach methodologies that allow us to anticipate better scenarios., Esta publicação é o quarto Caderno da Linha de Pesquisa Nº4 Design em Perspectiva, Cenários de Design e pertence ao Projeto Nº4 chamado Design Visions: Problematize Design para entender sua complexidade. O caminho de reflexão e pesquisa vinculado ao Programa de Design de Transição da Universidade Carnegie Mellon continua, dentro do Mestrado em Gerenciamento de Design-UP, juntamente com suas ações conjuntas de publicação e gerenciamento compartilhado, o que abre um quarto período de estudo de implementação da experiência. As investigações desenvolvidas em Visions of Design continuam (a) O Designer como agente de mudança (Cuaderno 80. Di Bella, 2018: 173-239) e (Cuaderno 73. Irwin e Di Bella, 2018); e (b) Eco-Social Designers e a exploração de “lentes” potencialmente úteis para o desenvolvimento de visões de futuro sustentável (Thackara, 2005: 1-8; Lockton e Candy, 2018) e (Caderno 87. Di Bella, 2019 : 55-104). A escala dos problemas do Design está mudando, está ocorrendo de maneira cada vez mais rápida no nível de objetos e coisas (utilitaristas), quanto ao seu aspecto mais decorativo (estilo), desde as urgências e desafios da sustentabilidade - compreendidos em todas as suas dimensões - eles exigem Design e Designers, novas metodologias de abordagem que permitem antecipar melhores cenários., La presente publicación es el cuarto Cuaderno de la Línea de investigación Nº4 Diseño en Perspectiva, Escenarios del Diseño, y pertenece al Proyecto Nº4 denominado Visiones del Diseño: Problematizar el Diseño para comprender su complejidad. Continúa el camino de reflexión e investigación vinculado al Programa Transition Design de la Universidad Carnegie Mellon, dentro de la Maestría en Gestión del Diseño-UP junto con sus acciones de publicación conjunta y dirección compartida que abre un cuarto período de estudio de la implementación de la Experiencia. Continúa las indagaciones desarrolladas en Visiones del Diseño (a) El Diseñador como agente de cambio (Cuaderno 80. Di Bella, 2018: 173-239) y (Cuaderno 73. Irwin y Di Bella, 2018); y (b) Diseñadores Eco-Sociales, y la exploración de lentes potencialmente útiles para el desarrollo de visiones de futuros sostenibles (Thackara, 2005: 1-8; Lockton y Candy, 2018) y (Cuaderno 87. Di Bella, 2019: 55-104). La escala de los problemas de Diseño está cambiando, se está corriendo de manera cada vez más veloz del nivel de los objetos y las cosas (utilitarios), como de su aspecto más decorativo (estilismo) ya que las urgencias y desafíos de la sostenibilidad –entendida en todas sus dimensiones– están demandando al Diseño y los Diseñadores, nuevas metodologías de abordaje que permitan anticipar mejores escenarios.

Published
2020

43. Impacto de la Experiencia Diseño en Perspectiva

Author

Di Bella, Daniela V and Di Bella, Daniela V

Abstract

Currently, design is embedded within multiple scenarios of complexity that require professionals with strong knowledge of the implications of their discipline and a broad reflective capacity. The inclusion of Transition Design (Irwin, Kosoff and Tonkinwise, 2015) proposed by the Carnegie Mellon University at the postgraduate level, in the curricula of the Master’s Degree in Design Management of the Universidad de Palermo, has allowed to “start” the necessary assessment of a systemic look of design, focusing on the relationship between Society-Environment-Economy, which amplify and expand the traditional frameworks of the academic treatment of Design in the region., Atualmente, o design é incorporado em vários cenários de complexidade que exigem profissionais com um forte conhecimento das implicações de sua disciplina e uma ampla capacidade de reflexão. A inclusão do Projeto Transitório (Irwin, Kosoff e Tonkinwise, 2015), proposta pela Universidade Carnegie Mellon no nível de pós-graduação, nos currículos do Mestrado em Design Management da Universidade de Palermo, permitiu “iniciar” a avaliação necessária de um aspecto sistêmico do projeto, com foco na relação entre Sociedade-Ambiente-Economia, que ampliam e expandem os quadros tradicionais do tratamento acadêmico de Design na região., El diseño en la actualidad se encuentra inserto dentro de múltiples escenarios de complejidad que requieren de profesionales de fuerte conocimiento de las implicancias de su disciplina y de una amplia capacidad reflexiva. La inclusión del Diseño para la Transición (Irwin, Kosoff y Tonkinwise, 2015) propuesto por la Universidad Carnegie Mellon a nivel de posgrado, en la currícula de la Maestría en Gestión del Diseño UP, ha permitido “dar inicio” a la necesaria valoración de una mirada sistémica del diseño, haciendo foco sobre la relación Sociedad-Ambiente-Economía, que amplifican y expanden los marcos tradicionales del tratamiento académico del Diseño en la región.

Published
2020

45. Fat Mass and Obesity-Associated Gene (FTO) in Eating Disorders: Evidence for Association of the rs9939609 Obesity Risk Allele with Bulimia nervosa and Anorexia nervosa

Author

Müller, Timo D., Greene, Brandon H., Bellodi, Laura, Cavallini, Maria C., Cellini, Elena, Di Bella, Daniela, Ehrlich, Stefan, Erzegovesi, Stefano, Estivill, Xavier, Fernández-Aranda, Fernando, Fichter, Manfred, Fleischhaker, Christian, Scherag, Susann, Gratacòs, Monica, Grallert, Harald, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Illig, Thomas, Lehmkuhl, Ulrike, Nacmias, Benedetta, Ribasés, Marta, Ricca, Valdo, Schäfer, Helmut, Scherag, André, Sorbi, Sandro, Wichmann, Heinz-Erich, Hebebrand, Johannes, and Hinney, Anke

Published
2012
Full Text
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46. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Author

Mendes, Marisa I., primary, Green, Lydia M. C., additional, Bertini, Enrico, additional, Tonduti, Davide, additional, Aiello, Chiara, additional, Smith, Desiree, additional, Salsano, Ettore, additional, Beerepoot, Shanice, additional, Hertecant, Jozef, additional, von Spiczak, Sarah, additional, Livingston, John H., additional, Emrick, Lisa, additional, Fraser, Jamie, additional, Russell, Laura, additional, Bernard, Genevieve, additional, Magri, Stefania, additional, Di Bella, Daniela, additional, Taroni, Franco, additional, Koenig, Mary K., additional, Moroni, Isabella, additional, Cappuccio, Gerarda, additional, Brunetti‐Pierri, Nicola, additional, Rhee, Jullie, additional, Mendelsohn, Bryce A., additional, Helbig, Ingo, additional, Helbig, Katherine, additional, Muhle, Hiltrud, additional, Ismayl, Omar, additional, Vanderver, Adeline L., additional, Salomons, Gajja S., additional, van der Knaap, Marjo S., additional, and Wolf, Nicole I., additional

Published
2019
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47. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

Author

Mcnulty, Paul, Pilcher, Richard, Ramesh, Raviram, Necuiniate, Renata, Hughes, Alis, Farewell, Daniel, Holmans, Peter, Jones, Lesley, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, Verellen-Dumoulin, Christine, Van De Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Boogaerts, Andrea, Vandenberghe, Wim, Van Reijen, Dimphna, Kaiserova, Michaela, Šenkárová, Zuzana, Klempíř, Jiří, Majerová, Veronika, Roth, Jan, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Larsen, Ida Unmack, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjett, Hartikainen, Paivi, Ollokainen, Mari, Åman, Jaana, Ignatius, Jaakko, Kärppä, Mikko, Mustonen, Aki, Kajula, Outi, Jääskalainen, Outi, Moilanen, Jukka, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, 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Kaiserova, Michaela, Šenkárová, Zuzana, Klempíř, Jiří, Majerová, Veronika, Roth, Jan, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Larsen, Ida Unmack, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjett, Hartikainen, Paivi, Ollokainen, Mari, Åman, Jaana, Ignatius, Jaakko, Kärppä, Mikko, Mustonen, Aki, Kajula, Outi, Jääskalainen, Outi, Moilanen, Jukka, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, 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Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Grosjean, Hélène, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, Benaich, Sandra, Brice, Alexi, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, DIdier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Giséle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-Françoi, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Beuth, Marku, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthia, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharia, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Goerendt, Ine, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, DIercks, Gabriele, Dressler, DIrk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Barth, Katrin, Buck, Andrea, Connemann, Julia, Ecker, Daniel, Geitner, Carolin, Held, Christine, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Musacchio, Thoma, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, DIfruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, DI Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, DI Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, DI Donato, Stefano, DI Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, DI Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, DI Giacopo, Raffaella, Fasano, Alfonso, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Piccininni, Chiara, Quaranta, Davide, Romano, Silvia, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Zinzi, Paola, Coarelli, Giulia, Ferraldeschi, Michela, Ristori, Giovanni, Van Hout, Monique S.E., Van Vugt, Jeroen P.P., De Weert, A. Marit, Verhoeven, Marloe, Dekker, Meike, Leenders, Nico, Van Oostrom, Joost, Klooster, Jesper, Kremer, Berry, Baake, Verena, Van Den Bogaard, Simon J.A., Bos, Reineke, Dumas, Eve M., Hart't, Ellen P., Kampstra, Anne, Roos, Raymund A.C., Schoonderbeek, Anne, Duits, Annelien, Oosterloo, Mayke, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Bjørgo, Kathrine, Borgeød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Heiberg, Arvid, Retterstøl, Lar, Røsby, Oddveig, Sikiric, Alma, Stokke, Bodil, Van Walsem, Marleen, Wehus, Ragnhild, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Arntsen, Vibeke, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michal, Blaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Klodowska-Duda, Gabriela, Opala, Grzegorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Rudzińska, Monika, Stenwak, Agata, Szczudlik, Andrzej, Szczygiel, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Aniola, Jacek, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Wiśniewski, Bartlomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sulek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, DIas, Margarida, Morgado, Joana, Semedo, Cristina, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J, Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Andrade, Carlo, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Herrera, Carmen Durán, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumá, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, De La Cerda Santa María, André, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Sebastián, Ana Rojo, Pardo, Sonia Arriba, Guia, Dolors Badene, Calzado, Noemi, Hernanz, Laura Casa, DÍaz-Zorita, Juan Pablo Tartari, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Idiago, Jesús Miguel Ruiz, Villa Riballo, Antonio, Campolongo, Antonia, De Bobadilla, Ramon Fernandez, Bojarsky, Jaime Kulisevsky, Martinez-Horta, Saul, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Angeles, Maria, Gil, Acera, Corrales, Koldo Berganzo, Esteban, Juan Carlos Gomez, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Romero, Sandra Gutierrez, Arbelo, José Matía, De Molina, Rocío Malo, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Del Valle Loarte, María, Barrero, Francisco, Morales, Bla, Frades, Belén, Villanueva, Marina Ávila, Sevilla, Maria Ascension Zea, Frech, Fernando Alonso, Del Mar Fenollar, María, García, Rocío García-Ramo, Villanueva, Clara, Garde, Mónica Bascuñana, Ventura, Marta Fatá, Caldentey, Juan García, Ribas, Guillermo García, De Yébenes, Justo García, Moreno, José Luis López-Sendón, Barral, Verónica Mañane, Cubillo, Patricia Trigo, Ruíz, Pedro José García, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Martin, Veronica Puerta, Martínez, Noelia Rodríguez, Artiga, María José Sainz, Sánchez, Vicenta, Pueyo, Angel Martínez, Alarcón, Moreau María Dolore, Almagro, Carmen Antúnez, DIéguez, Esther, Fortuna, Lorenza, Manzanares, Salvadora, Muñoz, Juan Marín, Torres, María Martirio Antequera, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlo, Lozano, Pablo Sánchez, Ramirez, Inés Legarda, Arques, Penelope Nava, Lopera, Monica Rodriguez, Pastor, Barbara Vive, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolore, Ramos-Arroyo, Maria Antonia, Carrillo, Fátima, Redondo, María Teresa Cácere, Mir, Pablo, González, Laura Varga, Hermoso, Fátima Dama, Moreno, Jose Manuel García, Lucena, Carolina Mendez, Cortegana, Eva María Pacheco, Peña, José Chacón, Redondo, Lui, Sánchez, Violeta Sánchez, Fernandez, Cristina Melgar, Lemos, María Dolores Romero, Mata, Maite Parede, Casado, Rocío Villagrán, Bosca, Maria, Burguera, Juan Andre, Brugada, Francisco Castera, Vilaplana, Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Wahlström, Jan, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Björnsson, Elisabeth, Paucar, Martin, Pålhagen, Sven, Svenningsson, Per, Wallden, Tina, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francoi, Wider, Christian, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Harrower, Timothy, Vernon, Nathan, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, De Souza Keylock, Jenny, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, DI Pietro, Anna Gerrtiz, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Fullam, Ruth, Hunt, Sarah, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Andrew, Alyson, Frost, Julie, Noad, Rupert, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Rowett, Liz, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, DIpple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundu, Davies, Rhy, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, McEntagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Callaghan, Jenny, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nicola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Komati, Suresh, McDonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Das Purkayastha, Debasish, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O, Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Weekes, Rebecca, Craven, Janet, Bailey, Wendy, Coleman, Caroline, Haig-Brown, DIane, Simpson, Steve, Majeed, Tahir, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Agarwal, Veena, Anderson, Mary, Gunner, Kerry, Harris, Kayla, Hayward, Elaine, Heywood, Melanie, Keys, Liane, MacKinnon, Lesley, Kipps, Christopher, Smalley, Sarah, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Gowers, Lesley, Phillips, Michelle, Powell, Kingsley, Biunno, Ida, Bronzova, Juliana, Giuliano, Joe, Handley, Olivia J., Illarioshkin, Sergey, Illmann, Torsten, Levey, Jamie, McLean, Tim, Koivisto, Susana Pro, Päivärinta, Markku, Uhrova, Tereza, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Charpentier, Sébastien, Da Silva, Wildson Vieira, DI Renzo, Martina, Finisterra, Ana Maria, Genoves, Camille, Gilling, Mette, Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurá, Matilde, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Rindal, Beate, Røren, Niini, Šašinková, Pavla, Seliverstov, Yury, Timewell, Erika, Witjes-Ané, Marie-Noelle, Yudina, Elizaveta, Zielonka, Eugeniusz, Mcnulty, Paul, Hannequin, Didier, Diercks, Gabriele, Dressler, Dirk, Difruscolo, Olimpia, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., Van Den Bogaard, Simon J. A., Hart'T, Ellen P., Roos, Raymund A. C., Dias, Margarida, Diéguez, Esther, Mcfadyen, Paula, Mcgill, Marie, Mckenzie, Sue, Dipple, Heather, Mcentagart, Meriel, Mcdonnell, Sharon, Haig-Brown, Diane, Mackinnon, Lesley, and Mclean, Tim

Subjects
Adult, Male, Adolescent, Huntington's disease, cancer, neurodegeneration, trinucleotide repeat, Cellular and Molecular Neuroscience, Young Adult, Neoplasms, Trinucleotide repeat, Humans, Genetic Predisposition to Disease, Prospective Studies, Registries, Age of Onset, Neurodegeneration, Child, Aged, Cancer, Aged, 80 and over, Huntingtin Protein, Incidence, Infant, Newborn, Infant, Middle Aged, Europe, Settore MED/26 - NEUROLOGIA, Huntington Disease, Huntington’s disease, Child, Preschool, Female, Neurology (clinical), Trinucleotide Repeat Expansion
Abstract

Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis.

Published
2018

49. Ascl1 Balances Neuronal versus Ependymal Fate in the Spinal Cord Central Canal

Author

Di Bella, Daniela J., Carcagno, Abel L., Lucia Bartolomeu, M., Belen Pardi, M., Loehr, Heiko, Siegel, Nicole, Hammerschmidt, Matthias, Marin-Burgin, Antonia, Lanuza, Guillermo M., Di Bella, Daniela J., Carcagno, Abel L., Lucia Bartolomeu, M., Belen Pardi, M., Loehr, Heiko, Siegel, Nicole, Hammerschmidt, Matthias, Marin-Burgin, Antonia, and Lanuza, Guillermo M.

Abstract

Generation of neuronal types at the right time, location, and number is essential for building a functional nervous system. Significant progress has been reached in understanding the mechanisms that govern neuronal diversity. Cerebrospinal fluid-contacting neurons (CSF-cNs), an intriguing spinal cord central canal population, are produced during advanced developmental stages, simultaneous with glial and ependymal cells. It is unknown how CSF-cNs are specified after the neurogenesis-to-gliogenesis switch. Here, we identify delayed Ascl1 expression in mouse spinal progenitors during the gliogenic phase as key in CSF-cN differentiation. With fate mappings and time-controlled deletions, we demonstrate that CSF-cNs derive from Ascl1-expressing cells and that Ascl1 triggers late neurogenesis in the amniote spinal cord. Ascl1 abrogation transforms prospective CSF-cN progenitors into ependymocytes. These results demonstrate that late spinal progenitors have the potential to produce neurons and that Ascl1 initiates CSF-cN differentiation, controlling the precise neuronal and nonneuronal composition of the spinal central canal.

Published
2019

50. Clinical and genetic characteristics of late-onset Huntington's disease

Author

Oosterloo, Mayke, Bijlsma, Emilia K., van Kuijk, Sander MJ., Minkels, Floor, de Die-Smulders, Christine EM., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna-Rita, Biunno, Ida, Bonelli, Raphael M., Bronzova, Juliana, Burgunder, Jean-Marc, Dunnett, Stephen B., Ferreira, Joaquim J., Frich, Jan, Giuliano, Joe, Handley, Olivia J., Heiberg, Arvid, Illarioshkin, Sergey, Illmann, Torsten, Klempir, Jiri, Landwehrmeyer, G. Bernhard, Levey, Jamie, McLean, Tim, Nielsen, Jørgen E., Koivisto, Susana Pro, Päivärinta, Markku, Pålhagen, Sven, Quarrell, Oliver, Ramos-Arroyo, Maria, Roos, Raymund A. C., Saft, Carsten, Sebastián, Ana Rojo, Tabrizi, Sarah J., Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström+, Jan, Zaremba, Jacek (formerly, Rödig, Verena, Baake, Barth, Katrin, Garde, Monica Bascuñana, Becanovic, Kristina, Bernard, Tomáš, Betz, Sabrina, Bos, Reineke, Come, Adrien, Guedes, Leonor Correia, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Horta, Andrea, Hvalstedt, Carina, Held, Christine, Hussain, Hasina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren (formerly Heinonen), Niini, Salgueiro, Ana, Šašinková, Pavla, Seliverstov, Yury, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, van Walsem, Marleen R., Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Hecht, Karen, Herranhof, Brigitte, Holl (formerly Hödl), Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Marku, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klau, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Linder, Christoph, Pirker, Walter, Liessens, Dirk, Calmeyn, Godelinde, Somers, Nele, Delvaux, Isabelle, Boogaerts, Andrea, Flamez, Anja, de Raedt, Sylvie, Alaerts, Nick, Slama, Hichem, Supiot, Frédéric, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, van de Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, van Reijen, Dimphna, Weckx, Petra, Kaiserova, Michaela, Šenkárová, Zuzana, Bezdíček, Ondřej, Klempíř, Jiří, Klempířová, Olga, Majerová-Ibarburu, Veronika, Nikolai, Tomáš, Roth, Jan, Stárková, Irena, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Larsen, Ida Unmack, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Roos, Peter, Stockholm, Jette, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjatta, Bruun, Anu, Hartikainen, Paivi, Mäkipää, Seija, Ollokainen, Mari, Åman, Jaana, Kärppä, Mikko, Ignatius, Jaakko, Jääskeläinen, Outi, Kajula, Outi, Moilanen, Jukka, Mustonen, Aki, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Ojala, Marjut, Tähkäpää, Sirkku, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Bled, Déborah, Debruxelles, Sabrina, Duché, Charlotte, Fraisse, Sonia, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Derost, Philippe, Durif, Franck, Germain, Véronique, Legendre, Perrine, Loiseau, Sylvie, Marques, Ana, Ulla, Miguel, Vidal, Tiphaine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, Cleret de Langavant, Laurent, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnè, Barthélémy, Recka, De Bruycker, Christelle, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicola, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Blin, Stéphanie, Chen, Simone, Masmoudi, Kamel, Morin, Gille, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Zouitina, Yassine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Guenam, Aicha, Mundler, Laura, Nguyen, Karine, Benaich, Sandra, Brice, Alexi, Boster, Sarah, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Monnier, Tiffany, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, 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Weber, Nathalia, Bachmeier, Michael, Dose, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Musacchio, Thoma, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Nuzzi, Angela, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Agosti, Chiara, Barlati, Sergio, Compostella, Silvia, Marchina, Eleonora, Padovani, Alessando, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bertini, Elisabetta, Bartoli, Caterina, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, Bandettini di Poggio, Monica, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Tamburini, Tiziano, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Esposito, Chiara, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, D'Alessio, Barbara, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, Di Giacopo, 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E., van Vugt, Jeroen P. P., Marit de Weert, A., Verhoeven, Marloe, Dekker, Meike, Klooster, Jesper, Leenders, Nico, van Oostrom, Joost, Kremer, Berry, Baake, Verena, van den Bogaard, Simon J. A., Dumas, Eve M., t Hart, Ellen P., Hogenboom, Marye, Jacobs, Milou, Jurgens, Caroline, Kampstra, Anne, Schoonderbeek, Anne, Witjes-Ané, Marie-Noëlle, Duits, Annelien, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Retterstøl, Lar, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, van Walsem, Marleen, Wehus, Ragnhild, Arntsen, Vibeke, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Østern, Rune, Paulsen, Julie, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska – Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anna Bryl, Jacek Anioła, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol (formerly Kalbarczyk), Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski+, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Coelho, Miguel, Magalhães, 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Kipps, Christopher, MacKinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Loui, Lau, Puay Ngoh, Pica, Emmanuel, Roos, Raymund AC., Albanese, Alberto (ORCID:0000-0002-5864-0006), Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Oosterloo, Mayke, Bijlsma, Emilia K., van Kuijk, Sander MJ., Minkels, Floor, de Die-Smulders, Christine EM., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna-Rita, Biunno, Ida, Bonelli, Raphael M., Bronzova, Juliana, Burgunder, Jean-Marc, Dunnett, Stephen B., Ferreira, Joaquim J., Frich, Jan, Giuliano, Joe, Handley, Olivia J., Heiberg, Arvid, Illarioshkin, Sergey, Illmann, Torsten, Klempir, Jiri, Landwehrmeyer, G. Bernhard, Levey, Jamie, McLean, Tim, Nielsen, Jørgen E., Koivisto, Susana Pro, Päivärinta, Markku, Pålhagen, Sven, Quarrell, Oliver, Ramos-Arroyo, Maria, Roos, Raymund A. C., Saft, Carsten, Sebastián, Ana Rojo, Tabrizi, Sarah J., Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström+, Jan, Zaremba, Jacek (formerly, Rödig, Verena, Baake, Barth, Katrin, Garde, Monica Bascuñana, Becanovic, Kristina, Bernard, Tomáš, Betz, Sabrina, Bos, Reineke, Come, Adrien, Guedes, Leonor Correia, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Horta, Andrea, Hvalstedt, Carina, Held, Christine, Hussain, Hasina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren (formerly Heinonen), Niini, Salgueiro, Ana, Šašinková, Pavla, Seliverstov, Yury, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, van Walsem, Marleen R., Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Hecht, Karen, Herranhof, Brigitte, Holl (formerly Hödl), Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Marku, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klau, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Linder, Christoph, Pirker, Walter, Liessens, Dirk, Calmeyn, Godelinde, Somers, Nele, Delvaux, Isabelle, Boogaerts, Andrea, Flamez, Anja, de Raedt, Sylvie, Alaerts, Nick, Slama, Hichem, Supiot, Frédéric, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, van de Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, van Reijen, Dimphna, Weckx, Petra, Kaiserova, Michaela, Šenkárová, Zuzana, Bezdíček, Ondřej, Klempíř, Jiří, Klempířová, Olga, Majerová-Ibarburu, Veronika, Nikolai, Tomáš, Roth, Jan, Stárková, Irena, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Larsen, Ida Unmack, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Roos, Peter, Stockholm, Jette, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjatta, Bruun, Anu, Hartikainen, Paivi, Mäkipää, Seija, Ollokainen, Mari, Åman, Jaana, Kärppä, Mikko, Ignatius, Jaakko, Jääskeläinen, Outi, Kajula, Outi, Moilanen, Jukka, Mustonen, Aki, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Ojala, Marjut, Tähkäpää, Sirkku, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Bled, Déborah, Debruxelles, Sabrina, Duché, Charlotte, Fraisse, Sonia, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Derost, Philippe, Durif, Franck, Germain, Véronique, Legendre, Perrine, Loiseau, Sylvie, Marques, Ana, Ulla, Miguel, Vidal, Tiphaine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, Cleret de Langavant, Laurent, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnè, Barthélémy, Recka, De Bruycker, Christelle, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicola, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Blin, Stéphanie, Chen, Simone, Masmoudi, Kamel, Morin, Gille, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Zouitina, Yassine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Guenam, Aicha, Mundler, Laura, Nguyen, Karine, Benaich, Sandra, Brice, Alexi, Boster, Sarah, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Monnier, Tiffany, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Anheim, Mathieu, Barun, Nadia, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Gisèle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-Françoi, Marquine, Laurent, Pariente, Jérémie, Pierre, Michèle, Pomies, Elsa, Rolland, Sandrine, Souyris, Corinne, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Beuth, Marku, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Stamm, Christiane, Ganos, Christo, Stubbe, Lar, Tadic, Vera, Tübing, Jennifer, Lange, Herwig, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthia, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharia, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Goerendt, Ine, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat+, Michael, Longinus, Bernhard, Möller, Carsten, Bürk, Katrin, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Musacchio, Thoma, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Nuzzi, Angela, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Agosti, Chiara, Barlati, Sergio, Compostella, Silvia, Marchina, Eleonora, Padovani, Alessando, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bertini, Elisabetta, Bartoli, Caterina, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, Bandettini di Poggio, Monica, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Tamburini, Tiziano, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Esposito, Chiara, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, D'Alessio, Barbara, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, Di Giacopo, Raffaella, Fasano, Alfonso, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Romano, Silvia, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Ristori, Giovanni, van Hout, Monique S. E., van Vugt, Jeroen P. P., Marit de Weert, A., Verhoeven, Marloe, Dekker, Meike, Klooster, Jesper, Leenders, Nico, van Oostrom, Joost, Kremer, Berry, Baake, Verena, van den Bogaard, Simon J. A., Dumas, Eve M., t Hart, Ellen P., Hogenboom, Marye, Jacobs, Milou, Jurgens, Caroline, Kampstra, Anne, Schoonderbeek, Anne, Witjes-Ané, Marie-Noëlle, Duits, Annelien, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Retterstøl, Lar, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, van Walsem, Marleen, Wehus, Ragnhild, Arntsen, Vibeke, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Østern, Rune, Paulsen, Julie, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska – Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anna Bryl, Jacek Anioła, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol (formerly Kalbarczyk), Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski+, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Coelho, Miguel, Magalhães, Andreia, Mendes, Tiago, Neutel, Dulce, Rodrigues, Filipe, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Santos, Mariana, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Gonçalves, Alexandra, Loureiro, Rui, Moreira, Inê, Magalhães, Marina, Salgado, Paula, Andrade, Carlo, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Khasanova, Diana, Zalyalova, Zuleykha, Klyushnikov, Sergey, Sidorova, Olga, Smirnov, Oleg, Antonova, Victoria, Kopishinskaya, Svetlana, Korotysh, Maria, Magzhanov, Rim, Saifullina, Elena, Kurbatov, Sergey, Solis, Pilar, Herrera, Carmen Durán, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, María, Andrés de la Cerda Santa, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Pardo, Sonia Arriba, Guia, Dolors Badene, Calzado, Noemi, Hernanz, Laura Casa, Tartari Díaz-Zorita, Juan Pablo, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Ruiz Idiago, Jesús Miguel, Riballo, Antonio Villa, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Bojarsky, Jaime Kulisevsky, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Acera Gil, Maria Angele, Corrales, Koldo Berganzo, Gomez Esteban, Juan Carlo, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Sánchez, Jesú, Romero, Sandra Gutierrez, Arbelo, José Matía, Malo de Molina, Rocío, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Loarte, María del Valle, Barrero, Francisco, Morales, Bla, Frades, Belén, Villanueva, Marina Ávila, Zea Sevilla, Maria Ascension, Fenollar, María del Mar, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatá, Caldentey, Juan García, Ribas, Guillermo García, García de Yébenes, Justo, López-Sendón Moreno, José Lui, Barral, Verónica Mañane, Feliz, Cici, García Ruíz, Pedro José, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Pueyo, Angel Martínez, Martin, Veronica Puerta, Martínez, Noelia Rodríguez, Montojo, Teresa, Sainz Artiga, María José, Sánchez, Vicenta, Alarcón, María Dolore, Almagro, Carmen Antúnez, Diéguez, Esther, Fortuna, Lorenza, Legaz, Agustina, Manzanares, Salvadora, Muñoz, Juan Marín, Antequera Torres, María Martirio, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlo, Lozano, Pablo Sánchez, Ramirez, Inés Legarda, Benito, Dolors Morague, Arques, Penelope Nava, Lopera, Monica Rodriguez, Pastor, Barbara Vive, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolore, Ramos-Arroyo, Maria Antonia, Adarmes, Astrid, Bernal-Escudero, Maravilla, Carrillo, Fátima, Jesús, Silvia, Mir, Pablo, Vargas-González, Laura, Hermoso, Fátima Dama, García Moreno, José Manuel, Jaramillo, Javier Abril, Lucena, Carolina Mendez, Pacheco Cortegana, Eva María, Peña, José Chacón, Redondo, Lui, Sánchez, Violeta Sánchez, Fernandez, Cristina Melgar, Romero Lemos, María Dolore, Mata, Maite Parede, Casado, Rocío Villagrán, Bosca, Maria, Burguera, Juan Andre, Brugada, Francisco Castera, Millán Salvador, Jose Maria, Vilaplana, Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Diago, Elena Bellosta, López del Val, Javier, Martinez, Laura Martinez, López, Elena, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Lewin, Kajsa, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Esmaeilzadeh, Mouna, Tedroff, Joakim, Winnberg, Elisabeth, Benaminov, Stanislav, Björnsson, Elisabeth, Merrick, Daniel, Paucar, Martin, Svenningsson, Per, Wallden, Tina, Berglund, Mån, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Johansson, Ander, Niemelä, Valter, Nyholm, Dag, Wiklund, Leif, Koehli, Jessica, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francoi, Wider+, Christian, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Harrower, Timothy, Vernon, Nathan, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza (Keylock), Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Haig-Brown, Diane, Craven, Janet, Pallett, Andrew, Simpson, Steve, Weekes, Rebecca, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Barker, Roger A., O'Keefe, Deidre, Gerrtiz (nee Di Pietro), Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Neumann, Christian, Patterson, Kirsten, Thomson, David, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Harrison, Kaye, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Rowett, Liz, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundu, Davies, Rhy, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, McEntagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Gosling (nee Brown), Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thoma, Wild, Edward, Ackermann, Oda, Duport, Sophie, Scott, Adrienne, Stoy, Nichola, Vaughn, Jenny, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen (formerly Ritchie), Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, McDonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Purkayastha, Debasish Da, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O., Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Bailey, Wendy, Coleman, Caroline, Majeed, Tahir, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Ho, Aileen, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Taylor, Cat, Tidswell, Katherine, Kipps, Christopher, MacKinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Loui, Lau, Puay Ngoh, Pica, Emmanuel, Roos, Raymund AC., Albanese, Alberto (ORCID:0000-0002-5864-0006), and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P <.001). Overall motor and cognitive performance (P <.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P <.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P <.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P <.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients.

Published
2019

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