Detalhe da pesquisa
1.
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy.
Mol Ther
; 28(4): 1133-1153, 2020 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32087766
2.
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Am J Hum Genet
; 100(1): 169-178, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017374
3.
Structural instability of lamin A tail domain modulates its assembly and higher order function in Emery-Dreifuss muscular dystrophy.
Biochem Biophys Res Commun
; 512(1): 22-28, 2019 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30853177
4.
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²âº channels.
Hum Mol Genet
; 24(3): 637-48, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227914
5.
MURC/Cavin-4 facilitates recruitment of ERK to caveolae and concentric cardiac hypertrophy induced by α1-adrenergic receptors.
Proc Natl Acad Sci U S A
; 111(10): 3811-6, 2014 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24567387
6.
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
7.
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
8.
Respiratory and cardiac function in japanese patients with dysferlinopathy.
Muscle Nerve
; 53(3): 394-401, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088049
9.
Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca(2+) and AMPK/SIRT1.
Nature
; 464(7293): 1313-9, 2010 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20357764
10.
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
Neuropathology
; 36(6): 561-565, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27145725
11.
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry
; 86(5): 483-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25253871
12.
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
Brain
; 137(Pt 10): 2670-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25062695
13.
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Am J Hum Genet
; 88(6): 845-851, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665002
14.
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
J Neurol Neurosurg Psychiatry
; 85(8): 914-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24027297
15.
Characteristics of nuclear architectural abnormalities of myotubes differentiated from LmnaH222P/H222P skeletal muscle cells.
In Vitro Cell Dev Biol Anim
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38724872
16.
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.
Dev Biol
; 361(1): 79-89, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22020047
17.
Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.
J Biol Chem
; 287(4): 2689-705, 2012 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22157763
18.
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
Hum Mol Genet
; 20(19): 3841-51, 2011 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750112
19.
In vivo characterization of mutant myotilins.
Am J Pathol
; 180(4): 1570-80, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22349301
20.
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 84(9): 982-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572247