Detalhe da pesquisa
1.
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Hum Mol Genet
; 32(12): 2084-2092, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920481
2.
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Acta Neuropathol
; 145(2): 235-255, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36512060
3.
Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers.
Proc Natl Acad Sci U S A
; 116(34): 16835-16840, 2019 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31371504
4.
Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice.
FASEB J
; 33(1): 652-667, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30028636
5.
TMEM184b Promotes Axon Degeneration and Neuromuscular Junction Maintenance.
J Neurosci
; 36(17): 4681-9, 2016 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27122027
6.
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
Hum Mol Genet
; 24(23): 6588-602, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362252
7.
mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.
Hum Mol Genet
; 22(6): 1167-79, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23250913
8.
Seeding competent TDP-43 persists in human patient and mouse muscle.
bioRxiv
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38617354
9.
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
J Clin Invest
; 133(12)2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317968
10.
DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1.
Mol Ther Nucleic Acids
; 32: 937-948, 2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37346979
11.
Genetic deletion of skeletal muscle iPLA2γ results in mitochondrial dysfunction, muscle atrophy and alterations in whole-body energy metabolism.
iScience
; 26(6): 106895, 2023 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37275531
12.
VCP suppresses proteopathic seeding in neurons.
Mol Neurodegener
; 17(1): 30, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35414105
13.
Neuronal VCP loss of function recapitulates FTLD-TDP pathology.
Cell Rep
; 36(3): 109399, 2021 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34289347
14.
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
J Clin Invest
; 130(8): 4470-4485, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427588
15.
VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle.
Autophagy
; 15(6): 1082-1099, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30654731
16.
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D.
Neurol Genet
; 5(2): e318, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123706
17.
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.
Neurol Genet
; 5(3): e337, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192305
18.
Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination.
Cell Rep
; 19(1): 188-202, 2017 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28380357
19.
Autophagic vacuolar pathology in desminopathies.
Neuromuscul Disord
; 25(3): 199-206, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557463
20.
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Neuromuscul Disord
; 25(4): 289-96, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25617006