Detalhe da pesquisa
1.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet
; 106(1): 13-26, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685133
2.
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
J Peripher Nerv Syst
; 29(1): 97-106, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375759
3.
Generation of percentile curves for strength and functional abilities for boys with Duchenne muscular dystrophy.
Muscle Nerve
; 68(2): 198-205, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318179
4.
Inter-rater reliability of the Rasch-modified medical research council scoring criteria for manual muscle testing in neuromuscular diseases.
J Peripher Nerv Syst
; 28(1): 119-124, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36721348
5.
Alternative instrument for the evaluation of handgrip strength in Duchenne muscular dystrophy.
BMC Pediatr
; 22(1): 334, 2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689212
6.
Acetyl-CoA-driven respiration in frozen muscle contributes to the diagnosis of mitochondrial disease.
Eur J Clin Invest
; 51(9): e13574, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33937992
7.
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Clin Genet
; 96(4): 341-353, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268554
8.
Idiopathic hyperCKemia and malignant hyperthermia susceptibility.
Can J Anaesth
; 64(12): 1202-1210, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28952030
9.
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 138(Pt 10): 2847-58, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264513
10.
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Neurol Genet
; 9(2): e200058, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090936
11.
Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.
Arq Neuropsiquiatr
; 81(1): 81-94, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36918011
12.
The cross-cultural adaptation, construct validity, and intra-rater reliability of the functional mobility scale in Brazilian Portuguese for children and adolescents with spina bifida.
Disabil Rehabil
; 44(17): 4862-4870, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879009
13.
Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis.
Arq Neuropsiquiatr
; 80(7): 676-680, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36254439
14.
Esophageal contractions in patients with chronic progressive external ophthalmoplegia.
Dig Dis Sci
; 56(8): 2343-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21399928
15.
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.
Neurogenetics
; 11(1): 135-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19705173
16.
Brow motility in mitochondrial myopathy.
Ophthalmic Plast Reconstr Surg
; 26(6): 416-9, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683376
17.
Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.
J Neurol Sci
; 278(1-2): 132-4, 2009 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19144360
18.
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Ann Clin Transl Neurol
; 6(7): 1225-1238, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353849
19.
Hand weakness in Duchenne muscular dystrophy and its relation to physical disability.
Neuromuscul Disord
; 18(3): 193-8, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18207403
20.
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
J Neurol
; 265(3): 708-713, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383513