Detalhe da pesquisa
1.
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
Nature
; 526(7575): 710-4, 2015 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503042
2.
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Hum Mol Genet
; 25(19): 4302-4314, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506977
3.
Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
Nature
; 532(7599): 402, 2016 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789244
4.
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
Curr Opin Neurol
; 29 Suppl 1: S3-S13, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26734951
5.
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
Eur Neurol
; 75(3-4): 113-23, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26910362
6.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
7.
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
8.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Am J Hum Genet
; 91(3): 553-64, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901947
9.
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Mov Disord
; 30(6): 854-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25772097
10.
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Nat Genet
; 38(2): 197-202, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16429158
11.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310273
12.
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Mol Genet Metab
; 113(1-2): 76-83, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087164
13.
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
Nat Commun
; 15(1): 1227, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418480
14.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Pediatr Neurol
; 157: 5-13, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38833907
15.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913485
16.
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathy.
J Neurogenet
; 27(1-2): 19-22, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23590577
17.
Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.
J Genet
; 1022023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722221
18.
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
Hum Mutat
; 33(10): 1474-84, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678886
19.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Am J Hum Genet
; 84(4): 511-8, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344878
20.
MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.
Neuromuscul Disord
; 31(7): 633-641, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34053846