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.
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
3.
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.
Int J Mol Sci
; 23(14)2022 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886995
4.
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
5.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Int J Mol Sci
; 23(19)2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232299
6.
TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.
Traffic
; 20(5): 325-345, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843302
7.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Clin Chem
; 67(8): 1113-1121, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352085
8.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Ann Neurol
; 86(2): 293-303, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31125140
9.
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
10.
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
11.
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.
Int J Mol Sci
; 21(9)2020 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32397676
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.
Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism.
Lab Invest
; 96(8): 872-84, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27322952
14.
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
15.
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
BMC Pediatr
; 14: 284, 2014 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25381171
16.
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.
Sci Rep
; 13(1): 14622, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670049
17.
Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides.
Nucleic Acid Ther
; 33(1): 1-16, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579950
18.
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
J Neuromuscul Dis
; 10(4): 653-665, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038823
19.
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.
Front Bioeng Biotechnol
; 10: 851825, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35547158
20.
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.
Eur J Paediatr Neurol
; 31: 92-101, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33711792