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.
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.
Neurobiol Dis;
198: 106537, 2024 May 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38772452
3.
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
4.
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
5.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
J Neurol Neurosurg Psychiatry;
92(11): 1186-1196, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34103343
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.
J Neuromuscul Dis;
10(1): 107-118, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36314214
14.
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
J Clin Neuromuscul Dis;
24(2): 80-84, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36409338
15.
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients.
Neuromuscul Disord;
30(9): 742-749, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32819793
16.
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Neurology;
93(21): e1932-e1943, 2019 11 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31653707
17.
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
18.
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
19.
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
20.
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
Case Rep Neurol;
9(2): 216-221, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28966590