Detalhe da pesquisa
1.
Clinicopathological correlates in frontotemporal lobar degeneration: motor neuron disease spectrum.
Brain
; 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38227807
2.
FHL1 is a major host factor for chikungunya virus infection.
Nature
; 574(7777): 259-263, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31554973
3.
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Int J Mol Sci
; 25(8)2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673950
4.
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
J Hum Genet
; 68(8): 527-532, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959467
5.
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
Clin Genet
; 103(4): 492-494, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544354
6.
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain
; 145(11): 3770-3775, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883251
7.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518334
8.
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.
Neuropediatrics
; 53(3): 182-187, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297028
9.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994279
10.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol
; 87(2): 217-232, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794073
11.
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
12.
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
J Neurol Neurosurg Psychiatry
; 95(3): 288-290, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041669
13.
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
Muscle Nerve
; 67(6): E22-E24, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631979
14.
Reply to the Letter to the Editor in response to "Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal".
Eur J Neurol
; 30(4): 1162-1164, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692238
15.
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Hum Mutat
; 38(5): 556-568, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28144995
16.
Bent spine syndrome as the initial symptom of late-onset Pompe disease.
Muscle Nerve
; 56(1): 167-170, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862019
17.
The Use of Peripherally Inserted Central Catheter in Amyotrophic Lateral Sclerosis Patients at a Later Stage.
Eur Neurol
; 77(1-2): 87-90, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27978519
18.
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Mov Disord
; 36(4): 1034-1038, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543803
19.
Long-term safety and efficacy of zilucoplan in patients with generalized myasthenia gravis: interim analysis of the RAISE-XT open-label extension study.
Ther Adv Neurol Disord
; 17: 17562864241243186, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38638673
20.
Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications.
Cells
; 12(8)2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37190090