Detalhe da pesquisa
1.
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
Hum Mol Genet
; 32(13): 2177-2191, 2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37010095
2.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
3.
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
Ann Neurol
; 93(2): 244-256, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088542
4.
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.
J Neurol Neurosurg Psychiatry
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744462
5.
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
Cerebellum
; 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760634
6.
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Cerebellum
; 23(1): 268-277, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36696030
7.
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Brain
; 146(3): 880-897, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380488
8.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
9.
Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
Hum Mol Genet
; 31(1): 133-145, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387338
10.
Identity-by-descent analysis of CMTX3 links three families through a common founder.
J Hum Genet
; 68(1): 47-49, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100665
11.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
12.
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.
J Neurol Neurosurg Psychiatry
; 93(6): 668-678, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256455
13.
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
J Peripher Nerv Syst
; 27(2): 120-126, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224818
14.
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
Neurogenetics
; 22(3): 149-160, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089394
15.
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Hum Mol Genet
; 28(10): 1629-1644, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30624633
16.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Neurogenetics
; 20(3): 117-127, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011849
17.
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
PLoS Genet
; 12(7): e1006177, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27438001
18.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain
; 140(5): 1252-1266, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369220
19.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
20.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Ann Neurol
; 79(3): 419-27, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26659848