Detalhe da pesquisa
1.
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
J Med Genet
; 60(6): 615-619, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36535754
2.
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
3.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
4.
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.
Int J Mol Sci
; 24(7)2023 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047330
5.
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
Int J Mol Sci
; 23(8)2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457228
6.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Int J Mol Sci
; 23(19)2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232299
7.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
8.
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
Int J Mol Sci
; 22(8)2021 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33924139
9.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Int J Mol Sci
; 22(10)2021 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34068417
10.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
Epilepsia
; 61(5): 971-983, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266982
11.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
J Inherit Metab Dis
; 43(2): 297-308, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31339582
12.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Am J Med Genet A
; 179(6): 915-926, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868735
13.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
14.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1041-57, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875215
15.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875216
16.
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
BMC Genomics
; 15: 91, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24484525
17.
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
BMC Pediatr
; 14: 252, 2014 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25284458
18.
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
19.
Epilepsy in Duchenne and Becker muscular dystrophies.
Ann Clin Transl Neurol
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693632
20.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Eur J Hum Genet
; 32(4): 426-434, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316953