Detalhe da pesquisa
1.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
2.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
3.
Peptides derived from the C-terminal domain of HIV-1 Viral Protein R in lipid bilayers: Structure, membrane positioning and gene delivery.
Biochim Biophys Acta Biomembr
; 1862(2): 183149, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816324
4.
Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies.
J Neuromuscul Dis
; 6(3): 289-305, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31356215
5.
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Acta Neuropathol Commun
; 7(1): 138, 2019 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455395