Detalhe da pesquisa
1.
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Hum Mol Genet
; 27(24): 4263-4272, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30215711
2.
Nemaline myopathies: a current view.
J Muscle Res Cell Motil
; 40(2): 111-126, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31228046
3.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
4.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
5.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain
; 139(Pt 3): 674-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700687
6.
Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody.
BMC Cell Biol
; 17(1): 26, 2016 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27350129
7.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 92(3): 354-65, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453667
8.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Am J Hum Genet
; 93(6): 1108-17, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268659
9.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746549
10.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Brain
; 138(Pt 2): 293-310, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497877
11.
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain
; 136(Pt 1): 269-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288328
12.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
EBioMedicine
; 99: 104894, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086156
13.
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
Neuromuscul Disord
; 32(3): 245-254, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35249790
14.
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Brain
; 138(Pt 11): e392, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063657
15.
Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.
Dev Dyn
; 239(3): 998-1009, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20108321
16.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
J Neuropathol Exp Neurol
; 80(10): 955-965, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498054
17.
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.
Am J Pathol
; 174(1): 216-27, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19095965
18.
Muscular dystrophies: an update on pathology and diagnosis.
Acta Neuropathol
; 120(3): 343-58, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20652576
19.
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Ann Neurol
; 64(2): 177-86, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18551513
20.
25th Meryon Lecture, given at the Annual Meeting of the Meryon Society, St Anne's College, Oxford, 7th July 2023The motor unit: A chequered history.
Neuromuscul Disord
; 39: 33-36, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38759273