Detalhe da pesquisa
1.
Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.
Pflugers Arch
; 472(10): 1481-1494, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748018
2.
Correction to: Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.
Pflugers Arch
; 472(10): 1533, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885305
3.
Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study.
J Physiol
; 597(1): 225-235, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30284249
4.
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
Neuropediatrics
; 50(5): 308-312, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31226716
5.
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses.
Radiology
; 280(3): 848-59, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27082780
6.
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
J Neurol Neurosurg Psychiatry
; 87(1): 49-52, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882930
7.
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
Cephalalgia
; 36(13): 1238-1247, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763045
8.
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
Muscle Nerve
; 52(4): 680-3, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26080010
9.
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
Brain
; 137(Pt 4): 998-1008, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24549961
10.
In vivo 35Cl MR imaging in humans: a feasibility study.
Radiology
; 271(2): 585-95, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24495267
11.
Myotonia in DNM2-related centronuclear myopathy.
J Neural Transm (Vienna)
; 121(5): 549-53, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24366529
12.
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.
Brain
; 136(Pt 12): 3775-86, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24240197
13.
A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia.
Acta Myol
; 33(1): 22-33, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24843232
14.
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
FASEB J
; 26(2): 513-22, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002906
15.
PRRT2 mutations are the major cause of benign familial infantile seizures.
Hum Mutat
; 33(10): 1439-43, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22623405
16.
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
J Physiol
; 590(15): 3449-64, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22641783
17.
Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results.
Radiology
; 264(1): 154-63, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22509051
18.
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
J Med Genet
; 48(10): 713-5, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21749991
19.
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients.
Acta Myol
; 31(2): 126-33, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23097604
20.
The role of fibrosis in Duchenne muscular dystrophy.
Acta Myol
; 31(3): 184-95, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23620650