Publications

Publications scientifiques les plus récentes issues de collaborations avec la Banque ADN & Cellules (co-autorat ou remerciement).

2022

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability. Fevga C, Tesson C, Mascaro AC, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network, Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V

Anti-CD20 therapies decrease humoral immune response to SARS-CoV-2 in patients with multiple sclerosis or neuromyelitis optica spectrum disorders. Louapre C, Ibrahim M, Maillart E, Abdi B, Papeix C, Stankoff B, Dubessy AL, Bensa-Koscher C, Créange A, Chamekh Z, Lubetzki C, Marcelin AG, Corvol JC, Pourcher V; COVISEP and Bio-coco-neuroscience study group.

The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis. Teyssou E, Chartier L, Roussel D, Perera ND, Nemazanyy I, Langui D, Albert M, Larmonier T, Saker S, Salachas F, Pradat PF, Meininger V, Ravassard P, Côté F, Lobsiger CS, Boillée S, Turner BJ, Seilhean D, Millecamps S.

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G.

MicroRNome analysis generates a blood-based signature for endometriosis. Bendifallah S, Dabi Y, Suisse S, Jornea L, Bouteiller D, Touboul C, Puchar A, Daraï E.

2021

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G.

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications. Saracino D, Dorgham K, Camuzat A, Rinaldi D, Rametti-Lacroux A, Houot M, Clot F, Martin-Hardy P, Jornea L, Azuar C, Migliaccio R, Pasquier F, Couratier P, Auriacombe S, Sauvée M, Boutoleau-Bretonnière C, Pariente J, Didic M, Hannequin D, Wallon D; French Research Network on FTD/FTD-ALS; PREV-DEMALS and Predict-PGRN study groups, Colliot O, Dubois B, Brice A, Levy R, Forlani S, Le Ber I.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Barbier M, Camuzat A, Hachimi KE, Guegan J, Rinaldi D, Lattante S, Houot M, Sánchez-Valle R, Sabatelli M, Antonell A, Molina-Porcel L, Clot F, Couratier P, van der Ende E, van der Zee J, Manzoni C, Camu W, Cazeneuve C, Sellal F, Didic M, Golfier V, Pasquier F, Duyckaerts C, Rossi G, Bruni AC, Alvarez V, Gómez-Tortosa E, de Mendonça A, Graff C, Masellis M, Nacmias B, Oumoussa BM, Jornea L, Forlani S; French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU -EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network, Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS, Van Deerlin V, Rohrer JD, Gelpi E, Rademakers R, Van Swieten J, Le Guern E, Van Broeckhoven C, Ferrari R, Génin E, Brice A, Le Ber I.

Propensity for somatic expansion increases over the course of life in Huntington disease. Kacher R, Lejeune FX, Noël S, Cazeneuve C, Brice A, Humbert S, Durr A.

2020

Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome. 10.1186/s40478-020-00956-z. Alexandra Botté, Jeanne Lainé, Laura Xicota, Xavier Heiligenstein, Gaëlle Fontaine, Amal Kasri, Isabelle Rivals, Pollyanna Goh, Orestis Faklaris, Jack-Christophe Cossec, Etienne Morel, Anne-Sophie Rebillat, Dean Nizetic, Graça Raposo, Marie-Claude Potier.

Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. 10.1136/jnnp-2020-324647. Virgilio Kmetzsch, Vincent Anquetil, Dario Saracino, Daisy Rinaldi, Agnès Camuzat, Thomas Gareau, Ludmila Jornea, Sylvie Forlani, Philippe Couratier, David Wallon, Florence Pasquier, Noémie Robil, Pierre de la Grange, Ivan Moszer, Isabelle Le Berf, Olivier Colliot, Emmanuelle Becker.

Segregation of ATP10B variants in families with autosomal recessive parkinsonism. 10.1007/s00401-020-02219-6. Christelle Tesson, Ebba Lohmann, David Devos, Hélène Bertrand, Suzanne Lesage, Alexis Brice.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. 10.1093/brain/awaa346. Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Deepali N Shinde, Katherine L Helbig, Diego Lopergolo, Francesca Mari, Alessandra Renieri, Elisa Benetti, Roberto Canitano, Quinten Waisfisz, Astrid S Plomp, Sylvia A Huisman, Golder N Wilson, Sara S Cathey, Raymond J Louie, Daniela Del Gaudio, Darrel Waggoner, Shawn Kacker, Kimberly M Nugent, Elizabeth R Roeder, Ange-Line Bruel, Julien Thevenon, Nadja Ehmke, Denise Horn, Manuel Holtgrewe, Frank J Kaiser, Susanne B Kamphausen, Rami Abou Jamra, Sarah Weckhuysen, Carine Dalle, Christel Depienne.

2019

Applicability of in vivo staging of regional amyloid burden in a cognitively normal cohort with subjective memory complaints: the INSIGHT-preAD study. Fatemah A. Sakr, Michel J. Grothe, Enrica Cavedo, Irina Jelistratova, Marie-Odile Habert, Martin Dyrba, Gabriel Gonzalez-Escamilla, Hugo Bertin, Maxime Locatelli, Stephane Lehericy, Stefan Teipel, Bruno Dubois, Harald Hampel.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type. Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne, Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S., Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, Eric LeGuern, Karl Martin, Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz
Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne.

2017

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.