Detalhe da pesquisa
1.
A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
Neuropathol Appl Neurobiol
; 49(4): e12918, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317811
2.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
3.
N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice.
Int J Mol Sci
; 21(12)2020 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32560255
4.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 90(5): 576-585, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530568
5.
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.
Muscle Nerve
; 59(4): 436-444, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578674
6.
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.
BMC Cell Biol
; 17 Suppl 1: 15, 2016 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27229680
7.
Broadening the imaging phenotype of dysferlinopathy at different disease stages.
Muscle Nerve
; 54(2): 203-10, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26800485
8.
Toward an objective measure of functional disability in dysferlinopathy.
Muscle Nerve
; 53(1): 49-57, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900324
9.
Dynamin-2 in nervous system disorders.
J Neurochem
; 128(2): 210-23, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24102355
10.
Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.
Am J Med Genet A
; 164A(9): 2365-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975390
11.
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
Muscle Nerve
; 50(6): 1011-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25088345
12.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Neurol Genet
; 9(5): e200093, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37588275
13.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
J Neurol
; 270(12): 5849-5865, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603075
14.
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.
Acta Derm Venereol
; 97(2): 297-298, 2017 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27563703
15.
Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern.
Neuromuscul Disord
; 32(8): 687-691, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688744
16.
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Genes (Basel)
; 13(6)2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741838
17.
Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene expression in Duchenne dystrophy-derived cells.
FASEB J
; 24(9): 3210-21, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20395455
18.
Idiopathic inflammatory myopathy human derived cells retain their ability to increase mitochondrial function.
PLoS One
; 15(11): e0242443, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216776
19.
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
Biochim Biophys Acta Mol Basis Dis
; 1866(8): 165800, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32305450
20.
Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy.
Neuromuscul Disord
; 30(6): 503-509, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518057