Detalhe da pesquisa
1.
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry.
Muscle Nerve
; 69(6): 699-707, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38551101
2.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
3.
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.
Hum Mol Genet
; 29(24): 3945-3953, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410456
4.
Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy.
Curr Opin Neurol
; 36(5): 432-440, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37678339
5.
Effects of enzyme replacement therapy on bone density in late onset Pompe disease.
Mol Genet Metab
; 140(3): 107644, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37515933
6.
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.
J Med Genet
; 59(7): 719-722, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34099539
7.
Clinical Trials in Prader-Willi Syndrome: A Review.
Int J Mol Sci
; 24(3)2023 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768472
8.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344616
9.
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.
J Transl Med
; 20(1): 21, 2022 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34998409
10.
Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells.
Neuropathol Appl Neurobiol
; 48(5): e12818, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501124
11.
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
12.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
J Med Genet
; 58(5): 314-325, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518176
13.
Genetics of Obesity in Humans: A Clinical Review.
Int J Mol Sci
; 23(19)2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232301
14.
A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6.
J Pharmacol Exp Ther
; 378(1): 31-41, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931547
15.
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.
Clin Genet
; 100(1): 29-39, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33615449
16.
Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
Muscle Nerve
; 63(4): 442-454, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33145792
17.
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.
Nucleic Acids Res
; 47(10): e59, 2019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30869147
18.
Stroke and Chronic Kidney Disease in Fabry Disease.
J Stroke Cerebrovasc Dis
; 30(9): 105423, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33160817
19.
Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.
Hum Mol Genet
; 27(21): 3697-3709, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982452
20.
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.
Am J Med Genet A
; 182(1): 169-175, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782896