Detalhe da pesquisa
1.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
2.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
3.
A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease.
Eur J Neurol
; 31(5): e16216, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247216
4.
Imaging swallowing function and the mechanisms driving dysphagia in inclusion body myositis.
Clin Exp Rheumatol
; 42(2): 425-435, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38372730
5.
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies.
Brain
; 146(4): 1316-1321, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36382348
6.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797998
8.
Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.
Cerebellum
; 22(4): 578-586, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35655106
9.
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Epilepsia
; 64(2): 443-455, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318112
10.
Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Muscle Nerve
; 68(4): 439-450, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37515374
11.
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Eur J Neurol
; 30(2): 399-412, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303290
12.
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Brain
; 145(2): 607-620, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529042
13.
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Brain
; 145(6): 2108-2120, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34919635
14.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
15.
Anti-HMGCR myopathy: barriers to prompt recognition.
Pract Neurol
; 23(3): 239-242, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564213
16.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol
; 89(6): 1240-1247, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704825
17.
Advances in methods to analyse cardiolipin and their clinical applications.
Trends Analyt Chem
; 157: 116808, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751553
18.
COVID-19 infection and vaccination in patients with skeletal muscle channelopathies.
Muscle Nerve
; 66(5): 617-620, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053900
19.
The long exercise test as a functional marker of periodic paralysis.
Muscle Nerve
; 65(5): 581-585, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34817893
20.
A cross-sectional study of memory and executive functions in patients with sporadic inclusion body myositis.
Muscle Nerve
; 65(1): 105-109, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605039