Detalhe da pesquisa
1.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Muscle Nerve
; 58(2): 224-234, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624713
2.
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
Genet Mol Biol
; 38(2): 147-51, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26273216
3.
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
J Neuromuscul Dis
; 10(4): 483-492, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37182895
4.
Hypoglycemia in Patients With LAMA2-CMD.
Pediatr Neurol
; 143: 1-5, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36934516
5.
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Neurol Genet
; 9(1): e200056, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714460
6.
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Can J Neurol Sci
; 44(1): 125-127, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748205
7.
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
J Neuropathol Exp Neurol
; 81(9): 746-757, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35898174
8.
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.
Arq Neuropsiquiatr
; 80(6): 563-569, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35946707
9.
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
J Biol Chem
; 285(13): 10005-10015, 2010 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20106987
10.
Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery.
Arq Neuropsiquiatr
; 79(2): 127-132, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33759979
11.
Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations.
Neuromuscul Disord
; 31(6): 498-504, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824074
12.
Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD.
Arq Neuropsiquiatr
; 78(4): 193-198, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32130296
13.
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
Neuromuscul Disord
; 30(1): 54-58, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31866162
14.
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
Clin Neurol Neurosurg
; 192: 105734, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065942
15.
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Neurol Genet
; 6(5): e505, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33062891
16.
Cognitive performance of children with spinal muscular atrophy: A systematic review.
Dement Neuropsychol
; 13(4): 436-443, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844498
17.
Therapeutic advances in 5q-linked spinal muscular atrophy.
Arq Neuropsiquiatr
; 76(4): 265-272, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29742241
18.
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
Neuromuscul Disord
; 28(11): 961-964, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30266223
19.
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
20.
Quantification of muscle strength and motor ability in patients with Duchenne muscular dystrophy on steroid therapy.
Arq Neuropsiquiatr
; 65(2A): 245-50, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17607422