Detalhe da pesquisa
1.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
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.
Axonal neuropathy with neuromyotonia: there is a HINT.
Brain
; 140(4): 868-877, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007994
4.
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Brain
; 140(2): 287-305, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137957
5.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
6.
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
Am J Hum Genet
; 92(6): 955-64, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664119
7.
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Genet Med
; 18(6): 600-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492578
8.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Brain
; 138(Pt 2): 293-310, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497877
9.
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
10.
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
Hum Mutat
; 36(3): 287-91, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512093
11.
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
12.
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
13.
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
14.
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Brain
; 137(Pt 11): 2879-96, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24970098
15.
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
16.
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
17.
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
18.
Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree.
Front Neurol
; 14: 1094234, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36846111
19.
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.
Front Cardiovasc Med
; 10: 1228410, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38028480
20.
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.
Genes (Basel)
; 14(11)2023 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002967