Detalhe da pesquisa
1.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38079474
2.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36943151
3.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Ann Neurol
; 90(6): 962-975, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34606115
4.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34234304
5.
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
J Neurol Neurosurg Psychiatry
; 92(9): 942-949, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33785574
6.
Effect of familial clustering in the genetic screening of 235 French ALS families.
J Neurol Neurosurg Psychiatry
; 92(5): 479-484, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33408239
7.
Phosphorylated and aggregated TDP-43 with seeding properties are induced upon mutant Huntingtin (mHtt) polyglutamine expression in human cellular models.
Cell Mol Life Sci
; 76(13): 2615-2632, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30863908
8.
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Int J Mol Sci
; 21(18)2020 Sep 16.
Artigo
Inglês
| MEDLINE | ID: mdl-32948071
9.
Development of an automated capillary nano-immunoassay-Simple Western assay-to quantify total TDP43 protein in human platelet samples.
Anal Bioanal Chem
; 411(1): 267-275, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30374726
10.
Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.
Eur Neurol
; 82(4-6): 106-112, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-32018264
11.
Adenovirus COVID-19 Vaccines and Guillain-Barré Syndrome with Facial Paralysis.
Ann Neurol
; 91(1): 162-163, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34699065
12.
Multiple sclerosis broke my heart.
Ann Neurol
; 81(5): 754-758, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28437859
13.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Eur J Hum Genet
; 32(1): 37-43, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37337091
14.
Trigeminal Nerve Involvement in Bulbar-Onset Anti-IgLON5 Disease.
Neurol Neuroimmunol Neuroinflamm
; 10(6)2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37607754
15.
Unveiled central hypoventilation after tracheotomy in anti-IgLON5 disease: a case report.
J Clin Sleep Med
; 19(9): 1701-1704, 2023 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37166031
16.
Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.
Neurol Neuroimmunol Neuroinflamm
; 10(1)2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36522170
17.
Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(5-6): 473-475, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34751056
18.
Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(5-6): 470-472, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34870541
19.
Comparative diagnosis interest of NfL and pNfH in CSF and plasma in a context of FTD-ALS spectrum.
J Neurol
; 269(3): 1522-1529, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34313819
20.
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.
Genes (Basel)
; 12(12)2021 11 25.
Artigo
Inglês
| MEDLINE | ID: mdl-34946825