Detalhe da pesquisa
1.
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Int J Mol Sci;
24(15)2023 Aug 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37569848
2.
Collagen VI in the Musculoskeletal System.
Int J Mol Sci;
24(6)2023 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36982167
3.
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype.
Int J Mol Sci;
24(7)2023 Apr 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37047652
4.
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Muscle Nerve;
64(5): 567-575, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34368974
5.
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
J Cell Sci;
129(8): 1671-84, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26945058
6.
Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy.
Pharmacol Res;
125(Pt B): 122-131, 2017 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28899790
7.
Alpha-lipoic Acid After Median Nerve Decompression at the Carpal Tunnel: A Randomized Controlled Trial.
J Hand Surg Am;
42(4): 236-242, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28249792
8.
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.
Hum Mol Genet;
23(20): 5353-63, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24852368
9.
Improving clinical trial design for Duchenne muscular dystrophy.
BMC Neurol;
15: 153, 2015 Aug 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26306629
10.
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
Brain;
137(Pt 4): 998-1008, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24549961
11.
Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts.
J Cell Physiol;
229(7): 878-86, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24356950
12.
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
Cells;
13(5)2024 Feb 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38474342
13.
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
14.
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy.
J Cell Physiol;
228(6): 1323-31, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23169061
15.
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.
ScientificWorldJournal;
2013: 152684, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24163611
16.
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.
Nat Genet;
35(4): 367-71, 2003 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14625552
17.
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nat Genet;
36(3): 271-6, 2004 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14981520
18.
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nat Genet;
35(2): 185-9, 2003 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14517542
19.
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Acta Neuropathol Commun;
11(1): 48, 2023 03 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36945066
20.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat;
33(6): 949-59, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22396310