Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

53 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C. Akimoto C, et al. Among authors: mouzat k. J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4. J Med Genet. 2014. PMID: 24706941 Free PMC article.
French National Protocol for genetic of amyotrophic lateral sclerosis.
Corcia P, Vourc'h P, Bernard E, Cassereau J, Codron P, Fleury MC, Guy N, Mouzat K, Pradat PF, Soriani MH, Couratier P. Corcia P, et al. Among authors: mouzat k. Rev Neurol (Paris). 2023 Nov;179(9):1020-1029. doi: 10.1016/j.neurol.2023.05.005. Epub 2023 Sep 19. Rev Neurol (Paris). 2023. PMID: 37735015
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.
Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, Lumbroso S, Rouleau GA, Meininger V, Camu W. Corcia P, et al. Among authors: mouzat k. Neurology. 2012 May 8;78(19):1519-26. doi: 10.1212/WNL.0b013e3182553c88. Epub 2012 Apr 25. Neurology. 2012. PMID: 22539580
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T. Leblond CS, et al. Among authors: mouzat k. PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25188300 Free PMC article.
Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.
Ayrignac X, Mouzat K, Magnin E, Berger E, Carra-Dallière C, Lumbroso S, Labauge P. Ayrignac X, et al. Among authors: mouzat k. Neurology. 2016 Nov 29;87(22):e262-e263. doi: 10.1212/WNL.0000000000003370. Neurology. 2016. Retraction in: Neurology. 2017 Sep 19;89(12):1311. doi: 10.1212/WNL.0000000000004439 PMID: 27895249 Retracted. No abstract available.
Liver X Receptor Genes Variants Modulate ALS Phenotype.
Mouzat K, Molinari N, Kantar J, Polge A, Corcia P, Couratier P, Clavelou P, Juntas-Morales R, Pageot N, Lobaccaro J-A, Raoul C, Lumbroso S, Camu W. Mouzat K, et al. Mol Neurobiol. 2018 Mar;55(3):1959-1965. doi: 10.1007/s12035-017-0453-2. Epub 2017 Feb 27. Mol Neurobiol. 2018. PMID: 28244008
Amyotrophic lateral sclerosis in Huntington disease gene carrier.
Bernard E, Mouzat K, Leblanc P, Bost M, Lumbroso S, Thobois S, Broussolle E. Bernard E, et al. Among authors: mouzat k. Rev Neurol (Paris). 2017 Dec;173(10):670-671. doi: 10.1016/j.neurol.2017.05.005. Epub 2017 Jun 7. Rev Neurol (Paris). 2017. PMID: 28595974 No abstract available.
53 results