Detalhe da pesquisa
1.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
J Peripher Nerv Syst
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581130
2.
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
Brain
; 146(7): 2885-2896, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36511878
3.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am J Hum Genet
; 107(4): 763-777, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32937143
4.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 93(5): 530-538, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140138
5.
CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.
Proc Natl Acad Sci U S A
; 116(39): 19440-19448, 2019 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501329
6.
The expanding genetic landscape of hereditary motor neuropathies.
Brain
; 143(12): 3540-3563, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33210134
7.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Hum Mutat
; 39(3): 415-432, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29235198
8.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 89(8): 870-878, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449460
9.
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
Brain
; 140(10): 2541-2549, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969372
10.
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
11.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
12.
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Ann Neurol
; 80(6): 823-833, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27686364
13.
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
J Neurol Neurosurg Psychiatry
; 88(11): 941-952, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28860329
14.
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics
; 16(1): 33-42, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231362
15.
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.
Cochrane Database Syst Rev
; (12): CD011952, 2015 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26662471
16.
Recent advances in Charcot-Marie-Tooth disease.
Curr Opin Neurol
; 27(5): 532-40, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25110935
17.
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
Brain Commun
; 6(2): fcae070, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38495304
18.
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Brain Pathol
; 34(1): e13200, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37581289
19.
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Autophagy
; 19(8): 2217-2239, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36854646
20.
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain
; 134(Pt 9): 2664-76, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840889