Detalhe da pesquisa
1.
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
BMC Genomics
; 25(1): 115, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279154
2.
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
Neurol Sci
; 45(3): 1225-1231, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37851294
3.
Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.
Pract Neurol
; 20(3): 253-255, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32184343
4.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
5.
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
6.
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Neurol Genet
; 9(1): e200056, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714460
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.
Myasthenia Gravis Related to Thymic Carcinoma: A Case Study.
Thorac Cardiovasc Surg Rep
; 9(1): e33-e36, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32963930
10.
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
11.
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
12.
Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital.
Arq Neuropsiquiatr
; 78(8): 494-500, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32756734
13.
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
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
em Inglês
|
LILACS-Express
| ID: biblio-1393968
15.
Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital / Consultas neurológicas e diagnósticos em um grande hospital universitário dedicado a COVID-19
Arq. neuropsiquiatr
; 78(8): 494-500, Aug. 2020. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-1131736
16.
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.
Arq Neuropsiquiatr
; 75(1): 72-73, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28099567