Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
J Pediatr
; 188: 181-185.e6, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662944
6.
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.
J Neurol Neurosurg Psychiatry
; 90(2): 243-245, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769250
7.
Caprin-1 is a target of the deafness gene Pou4f3 and is recruited to stress granules in cochlear hair cells in response to ototoxic damage.
J Cell Sci
; 124(Pt 7): 1145-55, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21402877
8.
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
9.
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Ann Neurol
; 69(2): 328-40, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21387378
10.
Sodium and chloride channelopathies with myositis: coincidence or connection?
Muscle Nerve
; 44(2): 283-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21698652
11.
Andersen-Tawil Syndrome Presenting with Complete Heart Block.
J Neuromuscul Dis
; 8(1): 151-154, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33074188
12.
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events.
Wellcome Open Res
; 5: 57, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32509969
13.
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Sci Rep
; 9(1): 17560, 2019 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772215
14.
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.
Sci Rep
; 8(1): 9714, 2018 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29946067
15.
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology
; 90(5): e412-e418, 2018 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29298851
16.
Annual Renal Ultrasound May Prevent Acute Presentation With Acetazolamide-Associated Urolithiasis.
Neurol Clin Pract
; 11(1): e40-e42, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33968492
17.
Transcriptional regulation by Barhl1 and Brn-3c in organ-of-Corti-derived cell lines.
Brain Res Mol Brain Res
; 141(2): 174-80, 2005 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-16226339
18.
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology
; 80(16): 1472-5, 2013 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23516313
19.
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.
Neurology
; 79(22): 2194-200, 2012 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23152584
20.
Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.
Arch Neurol
; 68(1): 127-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21220685