Detalhe da pesquisa
1.
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations.
J Med Genet
; 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38816194
2.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 89(7): 762-768, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437916
3.
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Am J Med Genet A
; 173(9): 2522-2527, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748650
4.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
5.
The genetic diversity of cystinuria in a UK population of patients.
BJU Int
; 116(1): 109-16, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25109415
6.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Neurology
; 101(15): e1495-e1508, 2023 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643885
7.
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Neuromuscul Disord
; 31(4): 359-366, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558124
8.
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.
Ann Clin Transl Neurol
; 7(10): 1870-1882, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910545
9.
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Ann Clin Transl Neurol
; 7(11): 2288-2296, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037864
10.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Ann Neurol
; 64(5): 573-82, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19067344
11.
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Arch Neurol
; 65(1): 137-41, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18195152
12.
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain
; 130(Pt 10): 2725-35, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17878207
13.
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Neuromuscul Disord
; 28(9): 741-749, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30131190
14.
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Neuromuscul Disord
; 27(9): 793-803, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28688748
15.
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Neuromuscul Disord
; 15(9-10): 588-94, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16084089
16.
Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.
J Clin Neurosci
; 22(12): 1983-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26249246
17.
RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?
Neuromuscul Disord
; 25(2): 138-40, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466363
18.
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Neuromuscul Disord
; 20(4): 241-50, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20207543
19.
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Brain Pathol
; 19(4): 596-611, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18691338
20.
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Ann Neurol
; 60(5): 603-610, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17044012