Detalhe da pesquisa
1.
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
Hum Mol Genet
; 31(5): 733-747, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34568901
2.
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.
Int J Mol Sci
; 25(9)2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732148
3.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
4.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827497
5.
Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice.
Int J Mol Sci
; 23(14)2022 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886926
6.
Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.
Hum Mol Genet
; 28(3): 351-371, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239736
7.
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.
Nat Mater
; 19(4): 464-473, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844279
8.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
9.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
J Med Genet
; 56(10): 693-700, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243061
10.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Hum Mutat
; 40(7): 962-974, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932294
11.
LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.
Nature
; 503(7474): 136-40, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24132234
12.
Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data.
Muscle Nerve
; 2018 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365344
13.
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Muscle Nerve
; 57(4): 679-683, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881388
14.
CaMKII determines mitochondrial stress responses in heart.
Nature
; 491(7423): 269-73, 2012 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23051746
15.
Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.
PLoS Genet
; 11(5): e1005231, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25996830
16.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(5): 1007, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051109
17.
Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification.
Toxicol Pathol
; 45(7): 961-976, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28974147
18.
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Hum Mol Genet
; 23(4): 980-91, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105469
19.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
20.
Refractory infantile high-grade glioma containing TRK-fusion responds to larotrectinib.
Pediatr Blood Cancer
; 68(5): e28868, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33403813