Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Epilepsia
; 62(5): 1256-1267, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33735526
6.
Spider toxin inhibits gating pore currents underlying periodic paralysis.
Proc Natl Acad Sci U S A
; 115(17): 4495-4500, 2018 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29636418
7.
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Lancet
; 391(10129): 1483-1492, 2018 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29605429
8.
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
9.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain
; 139(Pt 3): 674-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700687
10.
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Diabetologia
; 59(6): 1162-6, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033559
11.
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Neurogenetics
; 17(4): 245-249, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271339
12.
Genotype-phenotype association in patients with SCN4A mutation - Authors' reply.
Lancet
; 393(10188): 2301-2302, 2019 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31180027
13.
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
J Neurol Neurosurg Psychiatry
; 91(8): 898-900, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32487525
14.
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Brain
; 137(Pt 12): 3171-85, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348630
15.
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.
Curr Opin Neurol
; 27(5): 583-90, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188014
16.
De novo KCNA2 mutations cause hereditary spastic paraplegia.
Ann Neurol
; 81(2): 326-328, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28032718
17.
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Neuromuscul Disord
; 33(3): 270-273, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796140
18.
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
Hum Mol Genet
; 19(6): 963-72, 2010 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20022885
19.
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
J Physiol
; 589(Pt 13): 3071-83, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21540348
20.
Ageing contributes to phenotype transition in a mouse model of periodic paralysis.
JCSM Rapid Commun
; 4(2): 245-259, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174322