Detalhe da pesquisa
1.
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy.
Thorax
; 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38729626
2.
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Lancet
; 399(10322): 372-383, 2022 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35065785
3.
Primary progressive multiple sclerosis presenting with severe predominant cognitive impairment and psychiatric symptoms: A challenging case.
Mult Scler
; 23(11): 1558-1561, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28401768
4.
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models.
Front Mol Neurosci
; 13: 60, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32390798
5.
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
Neuromuscul Disord
; 27(5): 487-491, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28190646