Detalhe da pesquisa
1.
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Hum Mol Genet
; 27(10): 1772-1784, 2018 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29528393
2.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet
; 92(6): 946-54, 2013 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-23664116
3.
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
J Neurol Neurosurg Psychiatry
; 85(5): 590-2, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24336790
4.
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Eur J Hum Genet
; 25(9): 1040-1048, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28635954
5.
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Front Neurosci
; 9: 401, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26594138
6.
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.
Neuromuscul Disord
; 24(2): 156-61, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24300783