Detalhe da pesquisa
1.
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.
Eur J Neurol
; 31(6): e16267, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38556893
2.
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
J Gen Intern Med
; 29 Suppl 3: S780-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25029978
3.
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy.
Neuromuscul Disord
; 41: 8-19, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38865917
4.
Abrupt warming and salinification of intermediate waters interplays with decline of deep convection in the Northwestern Mediterranean Sea.
Sci Rep
; 10(1): 20923, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33262416
5.
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Eur J Hum Genet
; 26(5): 631-643, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396563
6.
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead.
Neuromuscul Disord
; 31(1): 69-78, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158687
7.
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
Orphanet J Rare Dis
; 10: 49, 2015 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25902795
8.
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.
PLoS Curr
; 52013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23330068