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2. Motor neuron pathology in CANVAS due to RFC1 expansions

Author

Huin, Vincent, Coarelli, Giulia, Guemy, Clément, Boluda, Susana, Debs, Rabab, Mochel, Fanny, Stojkovic, Tanya, Grabli, David, Maisonobe, Thierry, Gaymard, Bertrand, Lenglet, Timothée, Tard, Céline, Davion, Jean-Baptiste, Sablonnière, Bernard, Monin, Marie-Lorraine, Ewenczyk, Claire, Viala, Karine, Charles, Perrine, Ber, Isabelle Le, Reilly, Mary, Houlden, Henry, Cortese, Andrea, Seilhean, Danielle, Brice, Alexis, and Durr, Alexandra

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features. We clinically and genetically characterized 50 patients, selected based on the presence of sensory neuronopathy confirmed by EMG. We screened RFC1 expansion by PCR, repeat-primed PCR, and Southern blotting of long-range PCR products, a newly developed method. Neuropathological characterization was performed on the brain and spinal cord of one patient. Most patients (88%) carried a biallelic (AAGGG)n expansion in RFC1. In addition to the core CANVAS phenotype (sensory neuronopathy, cerebellar syndrome, and vestibular impairment), we observed chronic cough (97%), oculomotor signs (85%), motor neuron involvement (55%), dysautonomia (50%), and parkinsonism (10%). Motor neuron involvement was found for 24 of 38 patients (63.1%). First motor neuron signs, such as brisk reflexes, extensor plantar responses, and/or spasticity, were present in 29% of patients, second motor neuron signs, such as fasciculations, wasting, weakness, or a neurogenic pattern on EMG in 18%, and both in 16%. Mixed motor and sensory neuronopathy was observed in 19% of patients. Among six non-RFC1 patients, one carried a heterozygous AAGGG expansion and a pathogenic variant in GRM1. Neuropathological examination of one RFC1 patient with an enriched phenotype, including parkinsonism, dysautonomia, and cognitive decline, showed posterior column and lumbar posterior root atrophy. Degeneration of the vestibulospinal and spinocerebellar tracts was mild. We observed marked astrocytic gliosis and axonal swelling of the synapse between first and second motor neurons in the anterior horn at the lumbar level. The cerebellum showed mild depletion of Purkinje cells, with empty baskets, torpedoes, and astrogliosis characterized by a disorganization of the Bergmann's radial glia. We found neuronal loss in the vagal nucleus. The pars compacta of the substantia nigra was depleted, with widespread Lewy bodies in the locus coeruleus, substantia nigra, hippocampus, entorhinal cortex, and amygdala. We propose new guidelines for the screening of RFC1 expansion, considering different expansion motifs. Here, we developed a new method to more easily detect pathogenic RFC1 expansions. We report frequent motor neuron involvement and different neuronopathy subtypes. Parkinsonism was more prevalent in this cohort than in the general population, 10% versus the expected 1% (p < .001). We describe, for the first time, the spinal cord pathology in CANVAS, showing the alteration of posterior columns and roots, astrocytic gliosis and axonal swelling, suggesting motor neuron synaptic dysfunction.

Published
2022
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3. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

Author

Laugwitz, Lucia, Schoenmakers, Daphne H., Adang, Laura A., Beck-Woedl, Stefanie, Bergner, Caroline, Bernard, Geneviève, Bley, Annette, Boyer, Audrey, Calbi, Valeria, Dekker, Hanka, Eichler, Florian, Eklund, Erik, Fumagalli, Francesca, Gavazzi, Francesco, Grønborg, Sabine W., van Hasselt, Peter, Langeveld, Mirjam, Lindemans, Caroline, Mochel, Fanny, Oberg, Andreas, Ram, Dipak, Saunier-Vivar, Elise, Schöls, Ludger, Scholz, Michael, Sevin, Caroline, Zerem, Ayelet, Wolf, Nicole I., and Groeschel, Samuel

Published
2024
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5. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Author

Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Coutelier, Marie, Ewenczyk, Claire, Monin, Marie-Lorraine, Anheim, Mathieu, Le Ber, Isabelle, Thobois, Stéphane, Gobert, Florent, Guillot-Noël, Léna, Forlani, Sylvie, Jornea, Ludmila, Heinzmann, Anna, Sangare, Aude, Gaymard, Bertrand, Guyant-Maréchal, Lucie, Charles, Perrine, Marelli, Cecilia, Honnorat, Jérôme, Degos, Bertrand, Tison, François, Sangla, Sophie, Simonetta-Moreau, Marion, Salachas, François, Tchikviladzé, Maya, Castelnovo, Giovanni, Mochel, Fanny, Klebe, Stephan, Castrioto, Anna, Fenu, Silvia, Méneret, Aurélie, Bourdain, Frédéric, Wandzel, Marion, Roth, Virginie, Bonnet, Céline, Riant, Florence, Stevanin, Giovanni, Noël, Sandrine, Fauret-Amsellem, Anne-Laure, Bahlo, Melanie, Lockhart, Paul J., Brais, Bernard, Renaud, Mathilde, Brice, Alexis, and Durr, Alexandra

Published
2024
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6. Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis

Author

Lallemant-Dudek, Pauline, MD, Parodi, Livia, PhD, Coarelli, Giulia, MD, Heinzmann, Anna, MD, Charles, Perrine, MD PhD, Ewenczyk, Claire, MD, PhD, Fenu, Silvia, MD, Monin, Marie-Lorraine, MD, Corcia, Philippe, MD PhD, Depienne, Christel, PhD, Mochel, Fanny, MD, PhD, Benard, Jean, PhD, Tezenas du Montcel, Sophie, MD, and Durr, Alexandra, MD, PhD

Published
2023
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10. Disorders of Complex Lipids

Author

Vaz, Frédéric M., Wortmann, Saskia B., Mochel, Fanny, Blau, Nenad, editor, Dionisi Vici, Carlo, editor, Ferreira, Carlos R., editor, Vianey-Saban, Christine, editor, and van Karnebeek, Clara D. M., editor

Published
2022
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11. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

Author

Mc Govern, Eavan, Yazbeck, Elise, Barbier, Magali, Luton, Marie-Pierre, Pousset, Françoise, Hogrel, Jean-Yves, Adanyeguh, Isaac, Then Bergh, Florian, Bergner, Caroline, Unterlauft, Astrid, Roicke, Hannes, Hoffmann, Karl-Titus, Scherlach, Cordula, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Fenu, Silvia, Mauro, Elena, Murphy, Elaine, Krishna, Gauri, Beyene, Tiggy, Sierra, Alba, Quiñoa, Sara, Belen Canovas, Anna, Grosz, Zoltan, Györgyi, Báthori, van de Stadt, S.I., Huffnagel, I.C., van Ballegoij, W.J.C., Voermans, M.M.C., Seyedsadjadi, Reza, Corre, Camille, Godbole, Neha, Grant, Natalie Rose, Brito Pires, Claudia Maria, Trovato, Melissa, Yeh, Nancy, Goodman, Jordan, Keller, Jennifer, Joseph, Chris, Van Haren, Keith, Sakamuri, Sarada, Duong, Tina, Perrone, Lila, Tran, Stephanie, Dunaway Young, Sally, Hashmi, Syed, Köhler, Wolfgang, Engelen, Marc, Eichler, Florian, Lachmann, Robin, Fatemi, Ali, Sampson, Jacinda, Salsano, Ettore, Gamez, Josep, Molnar, Maria Judit, Pascual, Sílvia, Rovira, Maria, Vilà, Anna, Pina, Guillem, Martín-Ugarte, Itziar, Mantilla, Adriana, Pizcueta, Pilar, Rodríguez-Pascau, Laura, Traver, Estefania, Vilalta, Anna, Pascual, María, Martinell, Marc, Meya, Uwe, and Mochel, Fanny

Published
2023
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12. Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy

Author

Golse, Marianne, primary, Weinhofer, Isabelle, additional, Blanco, Bernardo, additional, Barbier, Magali, additional, Yazbeck, Elise, additional, Huiban, Camille, additional, Chaumette, Boris, additional, Pichon, Bertrand, additional, Fatemi, Ali, additional, Pascual, Silvia, additional, Martinell, Marc, additional, Berger, Johannes, additional, Perlbarg, Vincent, additional, Galanaud, Damien, additional, and Mochel, Fanny, additional

Published
2024
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13. Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Author

Ward, Jacqueline M, Stoyas, Colleen A, Switonski, Pawel M, Ichou, Farid, Fan, Weiwei, Collins, Brett, Wall, Christopher E, Adanyeguh, Isaac, Niu, Chenchen, Sopher, Bryce L, Kinoshita, Chizuru, Morrison, Richard S, Durr, Alexandra, Muotri, Alysson R, Evans, Ronald M, Mochel, Fanny, and La Spada, Albert R

Subjects
Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, Neurodegenerative, Brain Disorders, Neurosciences, Stem Cell Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adipose Tissue, Animals, Ataxin-7, Blood Glucose, Energy Metabolism, Humans, Kynurenine, Metabolomics, Mice, Mitochondria, Mitochondrial Diseases, NAD, Neural Stem Cells, Organelles, Peptides, Phenotype, Purkinje Cells, Reproducibility of Results, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion, Tryptophan, Purkinje cell, ataxin-7, induced pluripotent stem cells, mitochondria, mouse model, nicotinamide adenine dinucleotide, oxidative metabolism, polyglutamine, spinocerebellar ataxia, trinucleotide repeat, Medical Physiology, Biological sciences
Abstract

Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene. As many SCA7 clinical phenotypes occur in mitochondrial disorders, and magnetic resonance spectroscopy of patients revealed altered energy metabolism, we considered a role for mitochondrial dysfunction. Studies of SCA7 mice uncovered marked impairments in oxygen consumption and respiratory exchange. When we examined cerebellar Purkinje cells in mice, we observed mitochondrial network abnormalities, with enlarged mitochondria upon ultrastructural analysis. We developed stem cell models from patients and created stem cell knockout rescue systems, documenting mitochondrial morphology defects, impaired oxidative metabolism, and reduced expression of nicotinamide adenine dinucleotide (NAD+) production enzymes in SCA7 models. We observed NAD+ reductions in mitochondria of SCA7 patient NPCs using ratiometric fluorescent sensors and documented alterations in tryptophan-kynurenine metabolism in patients. Our results indicate that mitochondrial dysfunction, stemming from decreased NAD+, is a defining feature of SCA7.

Published
2019

14. Cardiac Outcomes in Adults With Mitochondrial Diseases

Author

Savvatis, Konstantinos, Vissing, Christoffer Rasmus, Klouvi, Lori, Florian, Anca, Rahman, Mehjabin, Béhin, Anthony, Fayssoil, Abdallah, Masingue, Marion, Stojkovic, Tanya, Bécane, Henri Marc, Berber, Nawal, Mochel, Fanny, Duboc, Denis, Fontaine, Bertrand, Krett, Bjørg, Stalens, Caroline, Lejeune, Julie, Pitceathly, Robert D.S., Lopes, Luis, Saadi, Malika, Gossios, Thomas, Procaccio, Vincent, Spinazzi, Marco, Tard, Céline, De Groote, Pascal, Dhaenens, Claire-Marie, Douillard, Claire, Echaniz-Laguna, Andoni, Quinlivan, Ros, Hanna, Michael G., Yilmaz, Ali, Vissing, John, Laforêt, Pascal, Elliott, Perry, and Wahbi, Karim

Published
2022
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16. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

Author

Schoenmakers, Daphne H., Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G., Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M., Hollak, Carla E. M., Lindemans, Caroline, Mochel, Fanny, Mol, Peter G. M., Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, and Wolf, Nicole I.

Published
2022
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17. International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach

Author

Engelen, Marc, van Ballegoij, Wouter J.C., Mallack, Eric James, Van Haren, Keith P., Köhler, Wolfgang, Salsano, Ettore, van Trotsenburg, A.S.P., Mochel, Fanny, Sevin, Caroline, Regelman, Molly O, Tritos, Nicholas A, Halper, Alyssa, Lachmann, Robin H, Davison, James, Raymond, Gerald V., Lund, Troy, Orchard, Paul J., Kuehl, Joern-Sven, Lindemans, Caroline A., Caruso, Paul, Turk, Bela Rui, Moser, Ann B., Vaz, Frederic M, Ferdinandusse, Sacha, Kemp, Stephan, Fatemi, Ali, Eichler, Florian S., and Huffnagel, Irene C.

Published
2022
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19. Tremor-like subcortical myoclonus in STXBP1 encephalopathy

Author

Loussouarn, Anna, Doummar, Diane, Beaugendre, Yara, Bienvenu, Thierry, Charles, Perrine, Depienne, Christel, Dorison, Nathalie, Heide, Solveig, Héron, Delphine, Ioos, Christine, Keren, Boris, Métreau, Julia, Mochel, Fanny, Moutard, Marie-Laure, Ravelli, Claudia, Apartis, Emmanuelle, and Mignot, Cyril

Published
2021
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20. Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)

Author

Pandolfo, Massimo, Reetz, Kathrin, Darling, Alejandra, Rodriguez de Rivera, Francisco Javier, Henry, Pierre-Gilles, Joers, James, Lenglet, Christophe, Adanyeguh, Isaac, Deelchand, Dinesh, Mochel, Fanny, Pousset, Françoise, Pascual, Sílvia, Van den Eede, Delphine, Martin-Ugarte, Itziar, Vilà-Brau, Anna, Mantilla, Adriana, Pascual, María, Martinell, Marc, Meya, Uwe, and Durr, Alexandra

Published
2022
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23. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

Author

Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, SCT patientenzorg, Schoenmakers, Daphne H., Mochel, Fanny, Adang, Laura A., Boelens, Jaap Jan, Calbi, Valeria, Eklund, Erik A., Grønborg, Sabine W., Fumagalli, Francesca, Groeschel, Samuel, Lindemans, Caroline, Sevin, Caroline, Schöls, Ludger, Ram, Dipak, Zerem, Ayelet, Graessner, Holm, Wolf, Nicole I., Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, SCT patientenzorg, Schoenmakers, Daphne H., Mochel, Fanny, Adang, Laura A., Boelens, Jaap Jan, Calbi, Valeria, Eklund, Erik A., Grønborg, Sabine W., Fumagalli, Francesca, Groeschel, Samuel, Lindemans, Caroline, Sevin, Caroline, Schöls, Ludger, Ram, Dipak, Zerem, Ayelet, Graessner, Holm, and Wolf, Nicole I.

Published
2024

24. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

Author

Metabole ziekten patientenzorg, Child Health, Infection & Immunity, SCT patientenzorg, Regenerative Medicine and Stem Cells, Laugwitz, Lucia, Schoenmakers, Daphne H., Adang, Laura A., Beck-Woedl, Stefanie, Bergner, Caroline, Bernard, Geneviève, Bley, Annette, Boyer, Audrey, Calbi, Valeria, Dekker, Hanka, Eichler, Florian, Eklund, Erik, Fumagalli, Francesca, Gavazzi, Francesco, Grønborg, Sabine W., van Hasselt, Peter, Langeveld, Mirjam, Lindemans, Caroline, Mochel, Fanny, Oberg, Andreas, Ram, Dipak, Saunier-Vivar, Elise, Schöls, Ludger, Scholz, Michael, Sevin, Caroline, Zerem, Ayelet, Wolf, Nicole I., Groeschel, Samuel, Metabole ziekten patientenzorg, Child Health, Infection & Immunity, SCT patientenzorg, Regenerative Medicine and Stem Cells, Laugwitz, Lucia, Schoenmakers, Daphne H., Adang, Laura A., Beck-Woedl, Stefanie, Bergner, Caroline, Bernard, Geneviève, Bley, Annette, Boyer, Audrey, Calbi, Valeria, Dekker, Hanka, Eichler, Florian, Eklund, Erik, Fumagalli, Francesca, Gavazzi, Francesco, Grønborg, Sabine W., van Hasselt, Peter, Langeveld, Mirjam, Lindemans, Caroline, Mochel, Fanny, Oberg, Andreas, Ram, Dipak, Saunier-Vivar, Elise, Schöls, Ludger, Scholz, Michael, Sevin, Caroline, Zerem, Ayelet, Wolf, Nicole I., and Groeschel, Samuel

Published
2024

25. Association of plasma YKL-40 with brain amyloid-β levels, memory performance, and sex in subjective memory complainers

Author

Bakardjian, Hovagim, Benali, Habib, Bertin, Hugo, Bonheur, Joel, Boukadida, Laurie, Boukerrou, Nadia, Cavedo, Enrica, Chiesa, Patrizia, Colliot, Olivier, Dubois, Bruno, Dubois, Marion, Epelbaum, Stéphane, Gagliardi, Geoffroy, Genthon, Remy, Habert, Marie-Odile, Hampel, Harald, Houot, Marion, Kas, Aurélie, Lamari, Foudil, Levy, Marcel, Lista, Simone, Metzinger, Christiane, Mochel, Fanny, Nyasse, Francis, Poisson, Catherine, Potier, Marie-Claude, Revillon, Marie, Santos, Antonio, Andrade, Katia Santos, Sole, Marine, Surtee, Mohmed, de Schotten, Michel Thiebaut, Vergallo, Andrea, Younsi, Nadjia, Afshar, Mohammad, Aguilar, Lisi Flores, Akman-Anderson, Leyla, Arenas, Joaquín, Ávila, Jesús, Babiloni, Claudio, Baldacci, Filippo, Batrla, Richard, Benda, Norbert, Black, Keith L., Bokde, Arun L.W., Bonuccelli, Ubaldo, Broich, Karl, Cacciola, Francesco, Caraci, Filippo, Caruso, Giuseppe, Castrillo†, Juan, Ceravolo, Roberto, Chiesa, Patrizia A., Corbo, Massimo, Corvol, Jean-Christophe, Cuello, Augusto Claudio, Cummings, Jeffrey L., Depypere, Herman, Duggento, Andrea, Emanuele, Enzo, Escott-Price, Valentina, Federoff, Howard, Ferretti, Maria Teresa, Fiandaca, Massimo, Frank, Richard A., Garaci, Francesco, Geerts, Hugo, Giacobini, Ezio, Giorgi, Filippo S., Goetzl, Edward J., Graziani, Manuela, Haberkamp, Marion, Hänisch, Britta, Herholz, Karl, Hernandez, Felix, Imbimbo, Bruno P., Kapogiannis, Dimitrios, Karran, Eric, Kiddle, Steven J., Kim, Seung H., Koronyo, Yosef, Koronyo-Hamaoui, Maya, Langevin, Todd, Lehéricy, Stéphane, Lemercier, Pablo, Llavero, Francisco, Lorenceau, Jean, Lucía, Alejandro, Mango, Dalila, Mapstone, Mark, Neri, Christian, Nisticò, Robert, O’bryant, Sid E., Palermo, Giovanni, Perry, George, Ritchie, Craig, Rossi, Simone, Saidi, Amira, Santarnecchi, Emiliano, Schneider, Lon S., Sporns, Olaf, Toschi, Nicola, Valenzuela, Pedro L., Vellas, Bruno, Verdooner, Steven R., Villain, Nicolas, Giudici, Kelly Virecoulon, Watling, Mark, Welikovitch, Lindsay A., Woodcock, Janet, Younesi, Erfan, Zugaza, José L., Zetterberg, Henrik, and Blennow, Kaj

Published
2020
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26. Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

Author

Lodi, Lorenzo, Melki, Isabelle, Bondet, Vincent, Seabra, Luis, Rice, Gillian I., Carter, Edwin, Lepelley, Alice, Martin-Niclós, Maria José, Al Adba, Buthaina, Bader-Meunier, Brigitte, Barth, Magalie, Blauwblomme, Thomas, Bodemer, Christine, Boespflug-Tanguy, Odile, Dale, Russel C., Desguerre, Isabelle, Ducrocq, Camille, Dulieu, Fabienne, Dumaine, Cécile, Ellul, Pierre, Hadchouel, Alice, Hentgen, Véronique, Hié, Miguel, Hully, Marie, Jeziorski, Eric, Lévy, Romain, Mochel, Fanny, Orcesi, Simona, Passemard, Sandrine, Pouletty, Marie, Quartier, Pierre, Renaldo, Florence, Seidl, Rainer, Shetty, Jay, Neven, Bénédicte, Blanche, Stéphane, Duffy, Darragh, Crow, Yanick J., and Frémond, Marie-Louise

Published
2021
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28. Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.

Author

Ribeiro Rezende, Thiago Junqueira, Adanyaguh, Isaac, Barsottini, Orlando G. P., Bender, Benjamin, Cendes, Fernando, Coutinho, Leo, Deistung, Andreas, Dogan, Imis, Durr, Alexandra, Fernandez-Ruiz, Juan, Göricke, Sophia L., Grisoli, Marina, Hernandez-Castillo, Carlos R., Lenglet, Christophe, Mariotti, Caterina, Martinez, Alberto R. M., Massuyama, Breno K., Mochel, Fanny, Nanetti, Lorenzo, and Nigri, Anna

Subjects
SPINOCEREBELLAR ataxia, SPINAL cord, FRIEDREICH'S ataxia, FAMILIAL spastic paraplegia, PYRAMIDAL tract, DORSAL root ganglia
Published
2024
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29. Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study

Author

Rezende, Thiago Junqueira Ribeiro, primary, Adanyaguh, Isaac, additional, Barsottini, Orlando G P, additional, Bender, Benjamin, additional, Cendes, Fernando, additional, Coutinho, Leo, additional, Deistung, Andreas, additional, Dogan, Imis, additional, Durr, Alexandra, additional, Fernandez-Ruiz, Juan, additional, Göricke, Sophia L, additional, Grisoli, Marina, additional, Hernandez-Castillo, Carlos R, additional, Lenglet, Christophe, additional, Mariotti, Caterina, additional, Martinez, Alberto R M, additional, Massuyama, Breno K, additional, Mochel, Fanny, additional, Nanetti, Lorenzo, additional, Nigri, Anna, additional, Ono, Sergio E, additional, Öz, Gülin, additional, Pedroso, José Luiz, additional, Reetz, Kathrin, additional, Synofzik, Matthis, additional, Teive, Helio, additional, Thomopoulos, Sophia I, additional, Thompson, Paul M, additional, Timmann, Dagmar, additional, van de Warrenburg, Bart P C, additional, van Gaalen, Judith, additional, França, Marcondes C, additional, and Harding, Ian H, additional

Published
2024
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32. Biomarker-guided clustering of Alzheimer's disease clinical syndromes

Author

Bakardjian, Hovagim, Benali, Habib, Bertin, Hugo, Bonheur, Joel, Boukadida, Laurie, Boukerrou, Nadia, Cavedo, Enrica, Chiesa, Patrizia, Colliot, Olivier, Dubois, Bruno, Dubois, Marion, Epelbaum, Stéphane, Gagliardi, Geoffroy, Genthon, Remy, Habert, Marie-Odile, Hampel, Harald, Houot, Marion, Kas, Aurélie, Lamari, Foudil, Levy, Marcel, Lista, Simone, Metzinger, Christiane, Mochel, Fanny, Nyasse, Francis, Poisson, Catherine, Potier, Marie-Claude, Revillon, Marie, Santos, Antonio, Andrade, Katia Santos, Sole, Marine, Surtee, Mohmed, Thiebaut de Schotten, Michel, Vergallo, Andrea, Younsi, Nadjia, Toschi, Nicola, Baldacci, Filippo, Zetterberg, Henrik, Blennow, Kaj, Kilimann, Ingo, Teipel, Stefan J., Melo dos Santos, Antonio, Floris, Roberto, and Garaci, Francesco

Published
2019
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34. Differential default mode network trajectories in asymptomatic individuals at risk for Alzheimer's disease

Author

Bakardjian, Hovagim, Benali, Habib, Bertin, Hugo, Bonheur, Joel, Boukadida, Laurie, Boukerrou, Nadia, Cavedo, Enrica, Chiesa, Patrizia, Colliot, Olivier, Dubois, Bruno, Dubois, Marion, Epelbaum, Stéphane, Gagliardi, Geoffroy, Genthon, Remy, Habert, Marie-Odile, Hampel, Harald, Houot, Marion, Kas, Aurélie, Lamari, Foudil, Levy, Marcel, Lista, Simone, Metzinger, Christiane, Mochel, Fanny, Nyasse, Francis, Poisson, Catherine, Potier, Marie-Claude, Revillon, Marie, Santos, Antonio, Andrade, Katia Santos, Sole, Marine, Surtee, Mohmed, de Schotten, Michel Thiebaud, Vergallo, Andrea, Younsi, Nadjia, Afshar, Mohammad, Aguilar, Lisi Flores, Akman-Anderson, Leyla, Arenas, Joaquín, Avila, Jesus, Babiloni, Claudio, Baldacci, Filippo, Batrla, Richard, Benda, Norbert, Black, Keith L., Bokde, Arun L.W., Bonuccelli, Ubaldo, Broich, Karl, Cacciola, Francesco, Caraci, Filippo, Castrillo, Juan, Ceravolo, Roberto, Chiesa, Patrizia A., Corvol, Jean-Christophe, Cuello, Augusto Claudio, Cummings, Jeffrey L., Depypere, Herman, Duggento, Andrea, Emanuele, Enzo, Escott-Price, Valentina, Federoff, Howard, Ferretti, Maria Teresa, Fiandaca, Massimo, Frank, Richard A., Garaci, Francesco, Geerts, Hugo, Giorgi, Filippo S., Goetzl, Edward J., Graziani, Manuela, Haberkamp, Marion, Herholz, Karl, Hernandez, Felix, Kapogiannis, Dimitrios, Karran, Eric, Kiddle, Steven J., Kim, Seung H., Koronyo, Yosef, Koronyo-Hamaoui, Maya, Langevin, Todd, Lehéricy, Stéphane, Lucía, Alejandro, Lorenceau, Jean, Mango, Dalila, Mapstone, Mark, Neri, Christian, Nisticó, Robert, O’Bryant, Sid E., Palermo, Giovanni, Perry, George, Ritchie, Craig, Rossi, Simone, Saidi, Amira, Santarnecchi, Emiliano, Schneider, Lon S., Sporns, Olaf, Toschi, Nicola, Verdooner, Steven R., Villain, Nicolas, Welikovitch, Lindsay A., Woodcock, Janet, Younesi, Erfan, and Thiebaut de Schotten, Michel

Published
2019
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35. Subjective cognitive decline and rates of incident Alzheimer's disease and non–Alzheimer's disease dementia

Author

Boada, Mercè, de Deyn, Peter Paul, Jones, Roy, Frisoni, Giovanni, Spiru, Luiza, Nobili, Flavio, Freund-Levi, Yvonne, Soininen, Hilkka, Verhey, Frans, Wallin, Åsa K., Touchon, Jacques, Rikkert, Marcel Olde, Rigaud, Anne-Sophie, Bullock, Roger, Tsolaki, Magda, Vellas, Bruno, Wilcock, Gordon, Hampel, Harald, Froelich, Lutz, Bakardjian, Hovagim, Benali, Habib, Bertin, Hugo, Bonheur, Joel, Boukadida, Laurie, Boukerrou, Nadia, Cavedo, Enrica, Chiesa, Patrizia, Colliot, Olivier, Dubois, Bruno, Dubois, Marion, Epelbaum, Stéphane, Gagliardi, Geoffroy, Genthon, Remy, Habert, Marie-Odile, Houot, Marion, Kas, Aurélie, Lamari, Foudil, Levy, Marcel, Lista, Simone, Metzinger, Christiane, Mochel, Fanny, Nyasse, Francis, Poisson, Catherine, Potier, Marie-Claude, Revillon, Marie, Santos, Antonio, Andrade, Katia Santos, Sole, Marine, Surtee, Mohmed, Thiebaud de Schotten, Michel, Vergallo, Andrea, Younsi, Nadjia, Slot, Rosalinde E.R., Sikkes, Sietske A.M., Berkhof, Johannes, Brodaty, Henry, Buckley, Rachel, Dardiotis, Efthimios, Guillo-Benarous, Francoise, Kochan, Nicole A., Luck, Tobias, Maruff, Paul, Molinuevo, José Luis, Kornhuber, Johannes, Reisberg, Barry, Riedel-Heller, Steffi G., Risacher, Shannon L., Roehr, Susanne, Sachdev, Perminder S., Scarmeas, Nikolaos, Scheltens, Philip, Shulman, Melanie B., Saykin, Andrew J., Verfaillie, Sander C.J., Visser, Pieter Jelle, Vos, Stephanie J.B., Wagner, Michael, Wolfsgruber, Steffen, Jessen, Frank, and van der Flier, Wiesje M.

Published
2019
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36. Latent class analysis identifies functional decline with Amsterdam IADL in preclinical Alzheimer's disease

Author

Bakardjian, Hovagim, Benali, Habib, Bertin, Hugo, LaurieBoukadida, Joel Bonheur, Boukerrou, Nadia, Cavedo, Enrica, Chiesa, Patrizia, Colliot, Olivier, Dubois, Bruno, Dubois, Marion, Epelbaum, Stéphane, Gagliardi, Geoffroy, Genthon, Remy, Habert, Marie-Odile, Hampel, Harald, Houot, Marion, Kas, Aurélie, Lamari, Foudil, Levy, Marcel, Lista, Simone, Metzinger, Christiane, Mochel, Fanny, Nyasse, Francis, Poisson, Catherine, Potier, Marie-Claude, Revillon, Marie, Santos, Antonio, Andrade, Katia Santos, Sole, Marine, Surtee, Mohmed, Thiebaud de Schotten, Michel, Vergallo, Andrea, Younsi, Nadjia, Villeneuve, Sarah-Christine, Cacciamani, Federica, Verrijp, Merike, and Sikkes, Sietske

Published
2019
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40. Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome

Author

Roesch, Sebastian, primary, O´Sullivan, Anna, additional, Tschani, Stefan, additional, Mayr, Johannes A., additional, Baghdasaryan, Anna, additional, Balasubramaniam, Shanti, additional, Barić, Ivo, additional, de Boer, Lonneke, additional, Grünert, Sarah C., additional, Guzek, Anna, additional, Janssen, Mirian, additional, Krumina, Zita, additional, Koenig, Mary Kay, additional, Mochel, Fanny, additional, Naldi, Arianne Monge, additional, Plecko, Barbara, additional, Öztürk, Kerem, additional, Riordan, Gillian, additional, Rymen, Daisy, additional, Santer, René, additional, Schiff, Manuel, additional, Stettner, Georg M., additional, Tsiakas, Konstantinos, additional, Uçar, Sema Kalkan, additional, Uzun, Özlem Ünal, additional, Weigel, Corina, additional, Witters, Peter, additional, Iwanicka-Pronicka, Katarzyna, additional, and Wortmann, Saskia B., additional

Published
2023
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41. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Author

Lischka, Annette, primary, Eggermann, Katja, additional, Record, Christopher J, additional, Dohrn, Maike F, additional, Laššuthová, Petra, additional, Kraft, Florian, additional, Begemann, Matthias, additional, Dey, Daniela, additional, Eggermann, Thomas, additional, Beijer, Danique, additional, Šoukalová, Jana, additional, Laura, Matilde, additional, Rossor, Alexander M, additional, Mazanec, Radim, additional, Van Lent, Jonas, additional, Tomaselli, Pedro J, additional, Ungelenk, Martin, additional, Debus, Karlien Y, additional, Feely, Shawna M E, additional, Gläser, Dieter, additional, Jagadeesh, Sujatha, additional, Martin, Madelena, additional, Govindaraj, Geeta M, additional, Singhi, Pratibha, additional, Baineni, Revanth, additional, Biswal, Niranjan, additional, Ibarra-Ramírez, Marisol, additional, Bonduelle, Maryse, additional, Gess, Burkhard, additional, Sánchez, Juan Romero, additional, Suthar, Renu, additional, Udani, Vrajesh, additional, Nalini, Atchayaram, additional, Unnikrishnan, Gopikrishnan, additional, Junior, Wilson Marques, additional, Mercier, Sandra, additional, Procaccio, Vincent, additional, Bris, Céline, additional, Suresh, Beena, additional, Reddy, Vaishnavi, additional, Skorupinska, Mariola, additional, Bonello-Palot, Nathalie, additional, Mochel, Fanny, additional, Dahl, Georg, additional, Sasidharan, Karthika, additional, Devassikutty, Fiji M, additional, Nampoothiri, Sheela, additional, Doriqui, Maria J Rodovalho, additional, Müller-Felber, Wolfgang, additional, Vill, Katharina, additional, Haack, Tobias B, additional, Dufke, Andreas, additional, Abele, Michael, additional, Stucka, Rolf, additional, Siddiqi, Saima, additional, Ullah, Noor, additional, Spranger, Stephanie, additional, Chiabrando, Deborah, additional, Bolgül, Behiye S, additional, Parman, Yesim, additional, Seeman, Pavel, additional, Lampert, Angelika, additional, Schulz, Jörg B, additional, Wood, John N, additional, Cox, James J, additional, Auer-Grumbach, Michaela, additional, Timmerman, Vincent, additional, de Winter, Jonathan, additional, Themistocleous, Andreas C, additional, Shy, Michael, additional, Bennett, David L, additional, Baets, Jonathan, additional, Hübner, Christian A, additional, Leipold, Enrico, additional, Züchner, Stephan, additional, Elbracht, Miriam, additional, Çakar, Arman, additional, Senderek, Jan, additional, Hornemann, Thorsten, additional, Woods, C Geoffrey, additional, Reilly, Mary M, additional, and Kurth, Ingo, additional

Published
2023
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42. Neurological Disease

Author

García-Cazorla, Angels, Wolf, Nicole I., Mochel, Fanny, Hoffmann, Georg F., Hoffmann, Georg F., editor, Zschocke, Johannes, editor, and Nyhan, William L., editor

Published
2017
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43. Sex differences in functional and molecular neuroimaging biomarkers of Alzheimer's disease in cognitively normal older adults with subjective memory complaints

Author

Bakardjian, Hovagim, Benali, Habib, Bertin, Hugo, Bonheur, Joel, Boukadida, Laurie, Boukerrou, Nadia, Cavedo, Enrica, Chiesa, Patrizia, Colliot, Olivier, Dubois, Bruno, Dubois, Marion, Epelbaum, Stéphane, Gagliardi, Geoffroy, Genthon, Remy, Habert, Marie-Odile, Hampel, Harald, Houot, Marion, Kas, Aurélie, Lamari, Foudil, Levy, Marcel, Lista, Simone, Metzinger, Christiane, Mochel, Fanny, Nyasse, Francis, Poisson, Catherine, Potier, Marie-Claude, Revillon, Marie, Santos, Antonio, Andrade, Katia Santos, Sole, Marine, Surtee, Mohmed, de Schotten, Michel Thiebaud, Vergallo, Andrea, Younsi, Nadjia, Aguilar, Lisi Flores, Babiloni, Claudio, Baldacci, Filippo, Benda, Norbert, Black, Keith L., Bokde, Arun L.W., Bonuccelli, Ubaldo, Broich, Karl, Bun, René S., Cacciola, Francesco, Castrillo, Juan, Ceravolo, Roberto, Chiesa, Patrizia A., Coman, Cristina-Maria, Corvol, Jean-Christophe, Cuello, Augusto Claudio, Cummings, Jeffrey L., Depypere, Herman, Duggento, Andrea, Durrleman, Stanley, Escott-Price, Valentina, Federoff, Howard, Ferretti, Maria Teresa, Fiandaca, Massimo, Frank, Richard A., Garaci, Francesco, George, Nathalie, Giorgi, Filippo S., Graziani, Manuela, Haberkamp, Marion, Herholz, Karl, Karran, Eric, Kim, Seung H., Koronyo, Yosef, Koronyo-Hamaoui, Maya, Langevin, Todd, Lehéricy, Stéphane, Lorenceau, Jean, Mapstone, Mark, Neri, Christian, Nisticò, Robert, Nyasse-Messene, Francis, O'bryant, Sid E., Perry, George, Ritchie, Craig, Rojkova, Katrine, Rossi, Simone, Saidi, Amira, Santarnecchi, Emiliano, Schneider, Lon S., Sporns, Olaf, Toschi, Nicola, Verdooner, Steven R., Villain, Nicolas, Welikovitch, Lindsay A., Woodcock, Janet, Younesi, Erfan, Grothe, Michel J., and Teipel, Stefan J.

Published
2018
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44. Cognitive and neuroimaging features and brain β-amyloidosis in individuals at risk of Alzheimer's disease (INSIGHT-preAD): a longitudinal observational study

Author

Audrain, Christelle, Auffret, Alexandra, Baldacci, Filippo, Benakki, Ismahane, Bertin, Hugo, Boukadida, Laurie, Cavedo, Enrica, Chiesa, Patrizia, Dauphinot, Luce, Dos Santos, Antonio, Dubois, Marion, Durrleman, Stanley, Fontaine, Gaëlle, Genin, Alexis, Glasman, Pauline, Jungalee, Navichka, Kas, Aurélie, Kilani, Maya, La Corte, Valentina, Lehericy, Stephane, Letondor, Claire, Levy, Marcel, Lowrey, Mark, Ly, Juliette, Makiese, Ornella, Metzinger, Christiane, Michon, Agnès, Mochel, Fanny, Poisson, Catherine, Ratovohery, Stephie, Revillon, Marie, Rojkova, Katrine, Roy, Perrine, Santos-Andrade, Katia, Schindler, Rachel, Seux, Laure, Simon, Valérie, Sole, Marine, Tandetnik, Caroline, Teichmann, Marc, Thiebaut de Shotten, Michel, Younsi, Nadjia, Dubois, Bruno, Epelbaum, Stephane, Nyasse, Francis, Bakardjian, Hovagim, Gagliardi, Geoffroy, Uspenskaya, Olga, Houot, Marion, Lista, Simone, Cacciamani, Federica, Potier, Marie-Claude, Bertrand, Anne, Lamari, Foudil, Benali, Habib, Mangin, Jean-François, Colliot, Olivier, Genthon, Remy, Habert, Marie-Odile, and Hampel, Harald

Published
2018
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45. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

Author

Genin, Emmanuelle C., Madji Hounoum, Blandine, Bannwarth, Sylvie, Fragaki, Konstantina, Lacas-Gervais, Sandra, Mauri-Crouzet, Alessandra, Lespinasse, Françoise, Neveu, Julien, Ropert, Baptiste, Augé, Gaelle, Cochaud, Charlotte, Lefebvre-Omar, Cynthia, Bigou, Stéphanie, Chiot, Aude, Mochel, Fanny, Boillée, Séverine, Lobsiger, Christian S., Bohl, Delphine, Ricci, Jean-Ehrland, and Paquis-Flucklinger, Véronique

Published
2019
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49. Diagnostic Procedures

Author

Touati, Guy, Mochel, Fanny, Rabier, Daniel, Saudubray, Jean-Marie, editor, Baumgartner, Matthias R., editor, and Walter, John, editor

Published
2016
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50. Emergency Treatments

Author

Schiff, Manuel, Mochel, Fanny, Dionisi-Vici, Carlo, Saudubray, Jean-Marie, editor, Baumgartner, Matthias R., editor, and Walter, John, editor

Published
2016
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