Detalhe da pesquisa
1.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38079474
2.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
3.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
4.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
5.
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Clin Genet
; 95(1): 182-186, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298599
6.
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
Hum Mol Genet
; 24(12): 3418-26, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25765662
7.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480796
8.
Highly significant antiviral activity of HIV-1 LTR-specific tre-recombinase in humanized mice.
PLoS Pathog
; 9(9): e1003587, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086129
9.
Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes.
Transgenic Res
; 20(1): 123-35, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20464633
10.
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
Hum Mutat
; 30(9): E831-44, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19492423
11.
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
Cell Rep
; 26(13): 3484-3492.e4, 2019 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917305
12.
Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems.
PLoS One
; 11(6): e0158294, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27341108
13.
Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(7): 803-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005867
14.
Strategies for muscle-specific targeting of adenoviral gene transfer vectors.
Neuromuscul Disord
; 12 Suppl 1: S30-9, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12206792
15.
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Neuromuscul Disord
; 13(3): 245-51, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12609506
16.
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
Neuromuscul Disord
; 14(11): 744-9, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15482960
17.
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Neuromuscul Disord
; 24(1): 31-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183479
18.
Long-term preservation of cardiac structure and function after adeno-associated virus serotype 9-mediated microdystrophin gene transfer in mdx mice.
Hum Gene Ther
; 23(6): 566-75, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22248393
19.
Clinical and neuropathological findings in patients with TACO1 mutations.
Neuromuscul Disord
; 20(11): 720-4, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20727754
20.
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(8): 962, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220135