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
em Inglês
| MEDLINE | ID: mdl-37070754
2.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
3.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Brain
; 145(11): 3985-3998, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957489
4.
Mutation update for the ACTN2 gene.
Hum Mutat
; 43(12): 1745-1756, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116040
5.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974137
6.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Hum Mutat
; 41(2): 403-411, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660661
7.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
8.
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Commun Biol
; 7(1): 438, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600180
9.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Sci Rep
; 14(1): 4306, 2024 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383731
10.
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.
medRxiv
; 2024 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370827
11.
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
J Neuromuscul Dis
; 10(5): 977-984, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37393515
12.
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
Ann Clin Transl Neurol
; 9(10): 1660-1667, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36134701
13.
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
J Neurol
; 269(8): 4161-4173, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237874
14.
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Neurol Genet
; 7(6): e632, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34722876
15.
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Neurol Genet
; 7(5): e619, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34386585
16.
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
J Neuromuscul Dis
; 7(3): 203-216, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176652
17.
Panorama of the distal myopathies.
Acta Myol
; 39(4): 245-265, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33458580
18.
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).
J Neuromuscul Dis
; 7(4): 477-481, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597815
19.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
J Neuromuscul Dis
; 7(2): 153-166, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039858
20.
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.
Neurology
; 92(14): e1600-e1609, 2019 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842289