Detalhe da pesquisa
1.
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.
J Neurol Neurosurg Psychiatry
; 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744462
2.
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
3.
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
4.
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
J Peripher Nerv Syst
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38860315
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.
Neurobiol Dis
; 94: 237-44, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27388934
14.
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
Hum Genet
; 135(11): 1269-1278, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27487800
15.
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.
J Peripher Nerv Syst
; 21(1): 45-51, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801680
16.
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
Hum Mol Genet
; 22(7): 1404-16, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297365
17.
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Am J Hum Genet
; 91(6): 1095-102, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217327
18.
Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
Neurogenetics
; 15(4): 229-35, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25028179
19.
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
Hum Mol Genet
; 21(8): 1794-807, 2012 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22210628
20.
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
Brain
; 141(9): e66, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982295