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1.
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
Hum Mutat
; 32(7): 773-82, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21412952
2.
[Encephalitis associated with positive anti-GluR antibodies showing abnormal appearance in basal ganglia, pulvinar and gray matter on MRI--case report].
Rinsho Shinkeigaku
; 51(3): 192-6, 2011 Mar.
Artículo
en Japonés
| MEDLINE | ID: mdl-21485164
3.
[A survey of cardiologists, diabetologists, gynecologists and ophthalmologists practicing in Osaka on the medical consultation behaviors of myotonic dystrophy patients].
Rinsho Shinkeigaku
; 51(9): 677-82, 2011 Sep.
Artículo
en Japonés
| MEDLINE | ID: mdl-21946424
4.
Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.
Brain Commun
; 2(2): fcaa103, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33005891
5.
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Sci Rep
; 8(1): 16681, 2018 11 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30420713
6.
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
J Neurol Sci
; 369: 254-258, 2016 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27653901
7.
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
Nat Commun
; 7: 11067, 2016 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27063795
8.
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.
Neurology
; 82(12): 1058-64, 2014 Mar 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-24574546
9.
[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].
Rinsho Shinkeigaku
; 53(4): 316-9, 2013.
Artículo
en Japonés
| MEDLINE | ID: mdl-23603549
10.
A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.
Neurosci Lett
; 519(1): 67-72, 2012 Jun 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-22617007
11.
A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.
J Neurol Sci
; 309(1-2): 9-11, 2011 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21855088
12.
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Nat Med
; 17(6): 720-5, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21623381
13.
Use of the muscle volume analyzer to evaluate enzyme replacement therapy in late-onset Pompe disease.
J Neurol
; 257(3): 461-3, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19908083
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