Detalhe da pesquisa
1.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
J Med Genet
; 60(10): 965-973, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197784
2.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
J Neuromuscul Dis
; 11(3): 647-653, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38489196
3.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Pediatr Neurol
; 157: 5-13, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38833907
4.
Epilepsy in Duchenne and Becker muscular dystrophies.
Ann Clin Transl Neurol
; 11(6): 1456-1464, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693632