Detalhe da pesquisa
1.
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
Immunity
; 50(5): 1218-1231.e5, 2019 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30952607
2.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
; 146(12): 4880-4890, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37769650
3.
Transfusion requirements and complication rate in ß-thalassemia intermedia due to heterozygous ß-globin gene mutation and triplicated α-globin genes.
Eur J Haematol
; 111(5): 742-747, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37519097
4.
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(10): 3265-3276, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335503
5.
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
em Inglês
| MEDLINE | ID: mdl-36943151
6.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
7.
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Genet Med
; 23(8): 1574-1577, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927379
8.
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Eur J Neurol
; 28(9): 2913-2921, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060176
9.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
10.
Three Mexican Families with ß thalassemia intermedia with different molecular basis.
Genet Mol Biol
; 42(4): e20190032, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142096
11.
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.
J Peripher Nerv Syst
; 24(4): 354-358, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31596031
12.
A novel SUPT5H variant associated with a beta-thalassaemia trait.
Br J Haematol
; 196(6): e70-e71, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854076
13.
Refining NGS diagnosis of muscular disorders.
J Neurol Neurosurg Psychiatry
; 92(2): 223-225, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934002
14.
Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
Cardiovasc Res
; 120(3): 237-248, 2024 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214891
15.
Clinical and genetic features of patients suffering from CMT4J.
J Neurol
; 271(3): 1355-1365, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950760
16.
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
Ann Hum Genet
; 77(4): 336-43, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23550889
17.
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Brain
; 135(Pt 1): 23-34, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22189565
18.
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/ßthal genotype in an individual from the Democratic Republic of Congo.
Eur J Med Genet
; 65(10): 104594, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964929
19.
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Genes (Basel)
; 13(2)2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205364
20.
HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia.
Clin Hemorheol Microcirc
; 77(3): 267-272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216016