Detalhe da pesquisa
1.
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Hum Mol Genet
; 32(21): 3029-3039, 2023 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37070754
2.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33974137
3.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32778822
4.
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Hum Mol Genet
; 24(13): 3718-31, 2015 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25877298
5.
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
Ann Neurol
; 73(4): 500-9, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23401021
6.
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Neurol Genet
; 7(6): e632, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34722876
7.
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 81(8): 834-9, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20682716
8.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
JAMA Neurol
; 75(5): 557-565, 2018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29435569
9.
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Nat Genet
; 44(4): 450-5, S1-2, 2012 Feb 26.
Artigo
Inglês
| MEDLINE | ID: mdl-22366786
10.
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.
Neuromuscul Disord
; 21(5): 338-44, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21376592