Detalhe da pesquisa
1.
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.
Mol Cell
; 69(3): 426-437.e7, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395064
2.
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Brain
; 145(6): 2077-2091, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35640906
3.
Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.
Ann Neurol
; 87(4): 547-555, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957062
4.
α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.
Mov Disord
; 36(10): 2346-2357, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34076298
5.
Patient-identified impact of symptoms in spinal and bulbar muscular atrophy.
Muscle Nerve
; 57(1): 40-44, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28877556
6.
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Muscle Nerve
; 57(5): 749-755, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981955
7.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Hum Mutat
; 36(1): 48-56, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204870
8.
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Ann Neurol
; 75(4): 525-32, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24515897
9.
A review of genetic counseling for Charcot Marie Tooth disease (CMT).
J Genet Couns
; 22(4): 422-36, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23604902
10.
Nucleocytoplasmic transport defect in a North American patient with ALS8.
Ann Clin Transl Neurol
; 5(3): 369-375, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29560381
11.
De novo REEP2 missense mutation in pure hereditary spastic paraplegia.
Ann Clin Transl Neurol
; 4(5): 347-350, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28491902
12.
Multigeneration family with dominant SPG30 hereditary spastic paraplegia.
Ann Clin Transl Neurol
; 4(11): 821-824, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159194
13.
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
Case Rep Neurol
; 9(2): 216-221, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28966590
14.
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
Ann Clin Transl Neurol
; 4(4): 272-275, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28382308
15.
Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.
Ann Clin Transl Neurol
; 3(8): 650-4, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27606346
16.
Sexual Reassignment Fails to Prevent Kennedy's Disease.
J Neuromuscul Dis
; 3(1): 121-125, 2016 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854206
17.
Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?
eNeurologicalSci
; 3: 17-20, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29430530
18.
Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss.
Neurology
; 94(21): 944, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451338
19.
A randomized controlled trial of exercise in spinal and bulbar muscular atrophy.
Ann Clin Transl Neurol
; 2(7): 739-47, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26273686
20.
Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.
J Clin Neurosci
; 21(9): 1627-31, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814856