Detalhe da pesquisa
1.
Newborn infant screening for spinal muscular atrophy: Chances and challenges.
Dev Med Child Neurol
; 64(5): 535, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35156200
2.
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 89(4): 543-50, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981780
3.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409538
4.
Unilateral Tongue Fasciculation Associated with Genetic Paraganglioma Syndrome.
Neuropediatrics
; 49(1): 78-79, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29117599
5.
Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis.
Neuromuscul Disord
; 28(12): 973-985, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389421
6.
Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain.
AJR Am J Roentgenol
; 187(3): 820-4, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16928952
7.
Consensus statement on standard of care for congenital muscular dystrophies.
J Child Neurol
; 25(12): 1559-81, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21078917