Detalhe da pesquisa
1.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31081514
2.
Electrophysiological evaluation of the neuromuscular junction: a brief review.
Arq Neuropsiquiatr
; 81(12): 1040-1052, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38157872
3.
A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.
Neuromuscul Disord
; 33(8): 692-696, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37429773
4.
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Can J Neurol Sci
; 44(1): 125-127, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27748205
5.
Myasthenia gravis in clinical practice.
Arq Neuropsiquiatr
; 80(5 Suppl 1): 257-265, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35976295
6.
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
Inglês
| MEDLINE | ID: mdl-35898174
7.
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.
Arq Neuropsiquiatr
; 80(6): 563-569, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35946707
8.
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.
Neuromuscul Disord
; 30(11): 897-903, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33121830
9.
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
Neuromuscul Disord
; 30(1): 54-58, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31866162
10.
Electrophysiological evaluation of the neuromuscular junction: a brief review / Avaliação eletrofisiológica da junção neuromuscular: breve revisão
Arq. neuropsiquiatr
; 81(12): 1040-1052, Dec. 2023. tab, graf
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1527909
11.
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
Neuromuscul Disord
; 28(11): 961-964, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30266223
12.
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
J Neurol
; 265(3): 708-713, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29383513
13.
Myasthenia gravis in clinical practice / Miastenia gravis na prática clínica
Arq. neuropsiquiatr
; 80(5,supl.1): 257-265, May 2022. tab, graf
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1393948
14.
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders / Efeito da pandemia do COVID-19 em pacientes com doenças neuromusculares hereditárias
Arq. neuropsiquiatr
; 80(6): 563-569, June 2022. tab
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1393968
15.
Teaching Video NeuroImage: Reflex Facilitation in Lambert-Eaton Myasthenic Syndrome.
Neurology
; 97(11): e1168-e1169, 2021 09 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34039725
16.
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.
Arq Neuropsiquiatr
; 75(1): 72-73, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28099567
17.
Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis.
Arq Neuropsiquiatr
; 75(3): 197-198, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-28355331
18.
Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis / Atrofia de musculatura facial e bulbar em miastenia gravis com presença do anticorpo Anti-AChR
Arq. neuropsiquiatr
; 75(3): 197-198, Mar. 2017. graf
Artigo
Inglês
| LILACS | ID: biblio-838877