Detalhe da pesquisa
1.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
N Engl J Med
; 385(5): 427-435, 2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320287
2.
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Clin Genet
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747280
3.
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Int J Equity Health
; 22(1): 11, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639662
4.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
5.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Ann Neurol
; 90(2): 239-252, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048612
6.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
7.
Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores.
Muscle Nerve
; 66(4): 471-478, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35894554
8.
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Eur J Neurol
; 29(3): 833-842, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34749429
9.
Long-term effects of muscle-derived stem cell therapy on the regeneration of the urethra of female rats.
Int Urogynecol J
; 33(4): 965-975, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33655365
10.
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Neurol Sci
; 43(7): 4473-4481, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175440
11.
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Int J Mol Sci
; 23(19)2022 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233295
12.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
13.
Severe brain involvement in 5q spinal muscular atrophy type 0.
Ann Neurol
; 86(3): 458-462, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301241
14.
The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention.
Neurourol Urodyn
; 39(2): 576-585, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794114
15.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31081514
16.
Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.
Pract Neurol
; 20(3): 253-255, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32184343
17.
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
18.
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Acta Neuropathol
; 138(3): 477-495, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218456
19.
Diagnostic Imaging of Inflammatory Myopathies: New Concepts and a Radiological Approach.
Curr Rheumatol Rep
; 21(3): 8, 2019 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30762122
20.
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Brain
; 141(12): 3308-3318, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423015