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26 results on '"Barzaghi, Chiara"'

4. Mutation screening of the DYT6/THAP1 gene in Italy

Author

Bonetti, Monica, Barzaghi, Chiara, Brancati, Francesco, Ferraris, Alessandro, Bellacchio, Emanuele, Giovanetti, Alessandro, Ialongo, Tamara, Zorzi, Giovanna, Piano, Carla, Petracca, Martina, Albanese, Alberto, Nardocci, Nardo, Dallapiccola, Bruno, Bentivoglio, Anna Rita, Garavaglia, Barbara, and Valente, Enza Maria

Published
2009
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8. Additional file 1: of The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Author

Baldo, Chiara, Casareto, Lorena, Renieri, Alessandra, Merla, Giuseppe, Garavaglia, Barbara, Goldwurm, Stefano, Pegoraro, Elena, Moggio, Maurizio, Mora, Marina, Politano, Luisa, Sangiorgi, Luca, Mazzotti, Raffaella, Viotti, Valeria, Meloni, Ilaria, Pellico, Maria, Barzaghi, Chiara, Chiuhui Wang, Monaco, Lucia, and Filocamo, Mirella

Abstract

Agreement template. (PDF 217 kb)

Published
2016
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9. The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Author

Baldo, Chiara, primary, Casareto, Lorena, additional, Renieri, Alessandra, additional, Merla, Giuseppe, additional, Garavaglia, Barbara, additional, Goldwurm, Stefano, additional, Pegoraro, Elena, additional, Moggio, Maurizio, additional, Mora, Marina, additional, Politano, Luisa, additional, Sangiorgi, Luca, additional, Mazzotti, Raffaella, additional, Viotti, Valeria, additional, Meloni, Ilaria, additional, Pellico, Maria Teresa, additional, Barzaghi, Chiara, additional, Wang, Chiuhui Mary, additional, Monaco, Lucia, additional, and Filocamo, Mirella, additional

Published
2016
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10. Mutational analysis of COQ2 in patients with MSA in Italy

Author

Ronchi, Dario, primary, Di Biase, Ernesto, additional, Franco, Giulia, additional, Melzi, Valentina, additional, Del Sorbo, Francesca, additional, Elia, Antonio, additional, Barzaghi, Chiara, additional, Garavaglia, Barbara, additional, Bergamini, Christian, additional, Fato, Romana, additional, Mora, Gabriele, additional, Del Bo, Roberto, additional, Fortunato, Francesco, additional, Borellini, Linda, additional, Trezzi, Ilaria, additional, Compagnoni, Giacomo Monzio, additional, Monfrini, Edoardo, additional, Frattini, Emanuele, additional, Bonato, Sara, additional, Cogiamanian, Filippo, additional, Ardolino, Gianluca, additional, Priori, Alberto, additional, Bresolin, Nereo, additional, Corti, Stefania, additional, Comi, Giacomo Pietro, additional, and Di Fonzo, Alessio, additional

Published
2016
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11. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Author

Mencacci, Niccolò E., primary, Kamsteeg, Erik-Jan, additional, Nakashima, Kosuke, additional, R’Bibo, Lea, additional, Lynch, David S., additional, Balint, Bettina, additional, Willemsen, Michèl A.A.P., additional, Adams, Matthew E., additional, Wiethoff, Sarah, additional, Suzuki, Kazunori, additional, Davies, Ceri H., additional, Ng, Joanne, additional, Meyer, Esther, additional, Veneziano, Liana, additional, Giunti, Paola, additional, Hughes, Deborah, additional, Raymond, F. Lucy, additional, Carecchio, Miryam, additional, Zorzi, Giovanna, additional, Nardocci, Nardo, additional, Barzaghi, Chiara, additional, Garavaglia, Barbara, additional, Salpietro, Vincenzo, additional, Hardy, John, additional, Pittman, Alan M., additional, Houlden, Henry, additional, Kurian, Manju A., additional, Kimura, Haruhide, additional, Vissers, Lisenka E.L.M., additional, Wood, Nicholas W., additional, and Bhatia, Kailash P., additional

Published
2016
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17. Isolated limb dystonia as presenting feature of Parkin disease

Author

Elia, Antonio Emanuele, Sorbo, Francesca Del, Romito, Luigi Michele Antonio, Barzaghi, Chiara, Garavaglia, Barbara, Albanese, Alberto, Elia, Antonio E., Romito, Luigi M., Albanese, Alberto (ORCID:0000-0002-5864-0006), Elia, Antonio Emanuele, Sorbo, Francesca Del, Romito, Luigi Michele Antonio, Barzaghi, Chiara, Garavaglia, Barbara, Albanese, Alberto, Elia, Antonio E., Romito, Luigi M., and Albanese, Alberto (ORCID:0000-0002-5864-0006)

Abstract

N/A

Published
2014

19. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Author

Cannelli, Natalia, primary, Garavaglia, Barbara, additional, Simonati, Alessandro, additional, Aiello, Chiara, additional, Barzaghi, Chiara, additional, Pezzini, Francesco, additional, Cilio, Maria Roberta, additional, Biancheri, Roberta, additional, Morbin, Michela, additional, Bernardina, Bernardo Dalla, additional, Granata, Tiziana, additional, Tessa, Alessandra, additional, Invernizzi, Federica, additional, Pessagno, Alice, additional, Boldrini, Renata, additional, Zibordi, Federica, additional, Grazian, Luisa, additional, Claps, Dianela, additional, Carrozzo, Rosalba, additional, Mole, Sara E., additional, Nardocci, Nardo, additional, and Santorelli, Filippo M., additional

Published
2009
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22. Mutation screening of the DYT6/ THAP1 gene in Italy.

Author

Bonetti, Monica, Barzaghi, Chiara, Brancati, Francesco, Ferraris, Alessandro, Bellacchio, Emanuele, Giovanetti, Alessandro, Ialongo, Tamara, Zorzi, Giovanna, Piano, Carla, Petracca, Martina, Albanese, Alberto, Nardocci, Nardo, Dallapiccola, Bruno, Bentivoglio, Anna Rita, Garavaglia, Barbara, and Valente, Enza Maria

Abstract

Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1-negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD. © 2009 Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2009
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23. Novel DYT11gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia

Author

Cilia, Roberto, Reale, Chiara, Castagna, Anna, Nasca, Alessia, Muzi-Falconi, Marco, Barzaghi, Chiara, Marzegan, Alberto, Granata, Magda, Marotta, Giorgio, Sacilotto, Giorgio, Vallauri, Davide, Pezzoli, Gianni, Goldwurm, Stefano, and Garavaglia, Barbara

Abstract

To test the hypothesis that adult-onset primary dystonia may be the underlying etiology of tremulous patients with clinical diagnosis of Parkinson disease (PD) but without evidence of dopaminergic deficit at nigrostriatal SPECT imaging.

Published
2014
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24. Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype.

Author

Carecchio, Miryam, Barzaghi, Chiara, Varrasi, Claudia, Cantello, Roberto, and Garavaglia, Barbara

Subjects
*WHITE matter (Nerve tissue), *LACUNAR stroke, *ARM paralysis, *GENETIC mutation
Abstract

The article presents a case study of an old man who was affected by a left frontal lacunar in the periventricular white matter with mild right upper limb paresis, right central facial palsy and dysarthria. The historical background of the disease is provided. It notes that genetic analysis showed a missense mutation in the SLC20A2 gene that caused a premature stop codon in the coding protein.

Published
2015
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25. The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Author

Maria Teresa Pellico, Luca Sangiorgi, Marina Mora, Stefano Goldwurm, Raffaella Mazzotti, Mirella Filocamo, Chiuhui Mary Wang, Chiara Barzaghi, Elena Pegoraro, Luisa Politano, Valeria Viotti, Maurizio Moggio, Alessandra Renieri, Lucia Monaco, Giuseppe Merla, C. Baldo, Ilaria Meloni, Lorena Casareto, Barbara Garavaglia, Baldo, Chiara, Casareto, Lorena, Renieri, Alessandra, Merla, Giuseppe, Garavaglia, Barbara, Goldwurm, Stefano, Pegoraro, Elena, Moggio, Maurizio, Mora, Marina, Politano, Luisa, Sangiorgi, Luca, Mazzotti, Raffaella, Viotti, Valeria, Meloni, Ilaria, Pellico, Maria Teresa, Barzaghi, Chiara, Wang, Chiuhui Mary, Monaco, Lucia, Filocamo, Mirella, Baldo, C, Casareto, L, Renieri, A, Merla, G, Garavaglia, B, Goldwurm, S, Pegoraro, E, Moggio, M, Mora, M, Politano, L, Sangiorgi, L, Mazzotti, R, Viotti, V, Meloni, I, Pellico, Mt, Barzaghi, C, Wang, Cm, Monaco, L, and Filocamo, M

Subjects
0301 basic medicine, Centralisation, Biobanking, Service (systems architecture), Biomedical Research, Process (engineering), media_common.quotation_subject, Population, Patient organisations, lcsh:Medicine, Context (language use), 030105 genetics & heredity, Agreement, 03 medical and health sciences, Networking, Promotion (rank), Agreements, Patient involvement, Rare diseases, Research, Sample and data centralisation, Medicine (all), Genetics (clinical), Pharmacology (medical), Humans, Genetics(clinical), education, Biological Specimen Banks, media_common, Medicine(all), education.field_of_study, business.industry, lcsh:R, General Medicine, Public relations, Biobank, 030104 developmental biology, Alliance, Patient organisation, business, Rare disease
Abstract

Background Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6–8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and describe how these relationships were established, formalised and maintained. Results The process of patient engagement has proven to be successful both for lay members, who increased their understanding of the complex processes of biobanking, and for professionals, who gained awareness of the needs and expectations of the people involved. This collaboration has resulted in a real interest on the part of Patient Organisations in the biobanking service, which has led to 13 written agreements designed to formalise this process. These agreements enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community. Conclusions The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations. Such collaboration serves to enhance awareness and trust and to encourage the scientific community to address research on RDs. Electronic supplementary material The online version of this article (doi:10.1186/s13023-016-0527-7) contains supplementary material, which is available to authorized users.

Published
2016

26. Mutational analysis of COQ2 in patients with MSA in Italy

Author

Chiara Barzaghi, Alessio Di Fonzo, Antonio E. Elia, Barbara Garavaglia, Sara Bonato, Giulia Franco, Gianluca Ardolino, Filippo Cogiamanian, Christian Bergamini, Valentina Melzi, Stefania Corti, Gabriele Mora, Alberto Priori, Francesco Fortunato, Ilaria Trezzi, Linda Borellini, Giacomo Monzio Compagnoni, Ernesto Di Biase, Dario Ronchi, Giacomo P. Comi, Emanuele Frattini, Roberto Del Bo, Edoardo Monfrini, Nereo Bresolin, Romana Fato, Francesca Del Sorbo, Ronchi, Dario, Di Biase, Ernesto, Franco, Giulia, Melzi, Valentina, Del Sorbo, Francesca, Elia, Antonio, Barzaghi, Chiara, Garavaglia, Barbara, Bergamini, Christian, Fato, Romana, Mora, Gabriele, Del Bo, Roberto, Fortunato, Francesco, Borellini, Linda, Trezzi, Ilaria, Compagnoni, Giacomo Monzio, Monfrini, Edoardo, Frattini, Emanuele, Bonato, Sara, Cogiamanian, Filippo, Ardolino, Gianluca, Priori, Alberto, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo Pietro, and Di Fonzo, Alessio

Subjects
Adult, Male, 0301 basic medicine, Aging, Cosegregation, Sequence analysis, DNA Mutational Analysis, COQ2, Disease, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Atrophy, stomatognathic system, parasitic diseases, mental disorders, MSA, medicine, Humans, In patient, Genetic Association Studies, Aged, Genetics, Alkyl and Aryl Transferases, Neuroscience (all), business.industry, General Neuroscience, Homozygote, CoQ10, Middle Aged, Multiple System Atrophy, medicine.disease, nervous system diseases, Mutational analysis, 030104 developmental biology, Italy, nervous system, Mutation, Etiology, Female, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Developmental Biology
Abstract

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.

Published
2016

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