Detalhe da pesquisa
1.
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Eur J Neurol
; 30(8): 2506-2517, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166430
2.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994279
3.
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Int J Mol Sci
; 22(1)2020 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33396724
4.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
5.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
6.
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
Hum Mol Genet
; 21(5): 1037-48, 2012 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22090424
7.
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nat Genet
; 37(11): 1207-9, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16227997
8.
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Am J Hum Genet
; 85(3): 338-53, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19716112
9.
Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional study.
EBioMedicine
; 86: 104367, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410115
10.
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
Biomedicines
; 10(10)2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36289705
11.
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Neurol Genet
; 8(1): e648, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35079622
12.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Acta Neuropathol Commun
; 10(1): 101, 2022 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810298
13.
DNAJB2 expression in normal and diseased human and mouse skeletal muscle.
Am J Pathol
; 176(6): 2901-10, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20395441
14.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770
15.
Metformin rescues muscle function in BAG3 myofibrillar myopathy models.
Autophagy
; 17(9): 2494-2510, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33030392
16.
A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
J Neuropathol Exp Neurol
; 79(8): 908-914, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32607581
17.
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Acta Neuropathol
; 117(3): 283-91, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19084976
18.
Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.
Mol Biol Cell
; 30(5): 579-590, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30601711
19.
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Acta Neuropathol Commun
; 7(1): 3, 2019 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30611313
20.
Erratum for Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional study.
EBioMedicine
; 87: 104400, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36525724