Detalhe da pesquisa
1.
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Hum Mol Genet
; 27(12): 2187-2204, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29648643
2.
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
Genet Med
; 20(10): 1224-1235, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29517768
3.
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
Am J Hum Genet
; 95(3): 332-9, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192047
4.
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
5.
Reversible infantile mitochondrial diseases.
J Inherit Metab Dis
; 38(3): 427-35, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407320
6.
A detailed semiologic analysis of childhood psychogenic nonepileptic seizures.
Epilepsia
; 53(3): 565-70, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22332748
7.
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Brain
; 138(Pt 11): e391, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063656
8.
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
J Neurol
; 267(12): 3643-3649, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656641
9.
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.
Neurology
; 90(21): e1842-e1848, 2018 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29720545
10.
Genetic heterogeneity of motor neuropathies.
Neurology
; 88(13): 1226-1234, 2017 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251916
11.
Phenotypic convergence of Menkes and Wilson disease.
Neurol Genet
; 2(6): e119, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27878136
12.
Phenotypic variability of TRPV4 related neuropathies.
Neuromuscul Disord
; 25(6): 516-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900305
13.
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Neurology
; 85(22): 1964-71, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26519543
14.
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
J Neurol
; 262(8): 1899-908, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26032230
15.
Neuregulin 1-induced AKT and ERK phosphorylation in patients with fragile X syndrome (FXS) and intellectual disability associated with obstetric complications.
J Mol Neurosci
; 54(1): 119-24, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24563264
16.
ANO10 mutations cause ataxia and coenzyme Q10 deficiency.
J Neurol
; 261(11): 2192-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182700