Detalhe da pesquisa
1.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163662
2.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Neuropathol Appl Neurobiol
; 48(7): e12846, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962550
3.
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
4.
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
5.
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
6.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
7.
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
8.
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
9.
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.
J Biol Chem
; 291(29): 14939-53, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226619
10.
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Brain
; 139(Pt 8): 2154-63, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259757
11.
Sodium nitrate alleviates functional muscle ischaemia in patients with Becker muscular dystrophy.
J Physiol
; 593(23): 5183-200, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437761
12.
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.
J Neurol Neurosurg Psychiatry
; 90(4): 490-493, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29921608
13.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry
; 85(3): 331-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23486992
14.
Prospective Role of PAK6 and 14-3-3γ as Biomarkers for Parkinson's Disease.
J Parkinsons Dis
; 14(3): 495-506, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38640169
15.
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Eur J Hum Genet
; 32(3): 342-349, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177406
16.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
17.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Hum Mutat
; 34(8): 1111-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606453
18.
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
Hum Mol Genet
; 20(24): 4879-90, 2011 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926082
19.
Titin mutation segregates with hereditary myopathy with early respiratory failure.
Brain
; 135(Pt 6): 1695-713, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577215
20.
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
PLoS Genet
; 6(3): e1000874, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20300641