Detalhe da pesquisa
1.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
2.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
3.
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Neuropediatrics
; 53(5): 309-320, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605965
4.
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Acta Neuropathol
; 137(3): 501-519, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30701273
5.
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
HGG Adv
; 5(2): 100274, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38358893
6.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
7.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Sci Transl Med
; 16(741): eadg2841, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569017
8.
Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype.
Mov Disord Clin Pract
; 10(4): 646-651, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070061
9.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Nat Med
; 27(7): 1197-1204, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059824
10.
The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.
Semin Pediatr Neurol
; 29: 44-54, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060725
11.
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands.
Neuromuscul Disord
; 30(10): 866-875, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32919842