Detalhe da pesquisa
1.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Acta Neuropathol
; 145(1): 127-143, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264506
2.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Brain
; 144(8): 2427-2442, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792664
3.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
4.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain
; 140(1): 37-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816943
5.
Factors associated with low fitness in adolescents--a mixed methods study.
BMC Public Health
; 14: 764, 2014 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25074589
6.
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
Hum Mol Genet
; 18(11): 1976-89, 2009 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19286669
7.
Progressive dysphagia in limb-girdle muscular dystrophy type 2B.
Muscle Nerve
; 43(5): 761-4, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21484829
8.
A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.
Neuromuscul Disord
; 31(7): 660-665, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34074572
9.
New aspects on patients affected by dysferlin deficient muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 81(9): 946-53, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19528035
10.
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
Muscle Nerve
; 41(2): 166-73, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082313
11.
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Neuromuscul Disord
; 18(12): 934-41, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18996010
12.
Caveolinopathy--new mutations and additional symptoms.
Neuromuscul Disord
; 18(7): 572-8, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18583131
13.
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
Acta Neuropathol
; 125(6): 917-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23575897
14.
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Brain
; 130(Pt 12): 3237-49, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18055493
15.
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.
Neuromuscul Disord
; 28(1): 48-53, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29128256
16.
Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality.
Circulation
; 107(12): 1653-7, 2003 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12668501
17.
The relationship between addiction and reward bundling: an experiment comparing smokers and non-smokers.
Addiction
; 106(2): 402-9, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20955491
18.
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
Eur J Hum Genet
; 19(10): 1038-44, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21629301
19.
A 29-year-old man with difficulty climbing the stairs.
Brain Pathol
; 24(5): 549-50, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25323671
20.
Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A.
Neuromuscul Disord
; 19(7): 449-57, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19556129