UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Prevalence study of genetically defined skeletal muscle channelopathies in England

Neurology, 2013-04, Vol.80 (16), p.1472-1475

2013

Volltextzugriff (PDF)

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations

Muscle & nerve, 2022-12, Vol.66 (6), p.757-761

2022

Volltextzugriff (PDF)

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Brain (London, England : 1878), 2018-12, Vol.141 (12), p.3308-3318

2018

Volltextzugriff (PDF)

Atypical presentation of hypokalemic periodic paralysis: A case report

Muscle & nerve, 2023-04, Vol.67 (4), p.E8-E9

2023

Volltextzugriff (PDF)

Hypokalemic periodic paralysis: a 3-year follow-up study

Journal of neurology, 2023-12, Vol.270 (12), p.6057-6063

2023

Volltextzugriff (PDF)

Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene

Journal of neuropathology and experimental neurology, 2020-12, Vol.79 (12), p.1276-1292

2020

Volltextzugriff (PDF)

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes

Neurogenetics, 2022, Vol.23 (1), p.19-25

2022

Volltextzugriff (PDF)

Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing

Neuromuscular disorders : NMD, 2023-03, Vol.33 (3), p.270-273

2023

Volltextzugriff (PDF)

Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

Journal of neuropathology and experimental neurology, 2020-10, Vol.79 (10), p.1127-1129

2020

Volltextzugriff (PDF)

Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients

Journal of the neurological sciences, 2020-05, Vol.412, p.116795-116795, Article 116795

2020

Volltextzugriff (PDF)

Skeletal Muscle Channelopathies

Neurologic clinics, 2020-08, Vol.38 (3), p.481-491

2020

Volltextzugriff (PDF)

Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis

Journal of the neurological sciences, 2020-05, Vol.412, p.116794-116794, Article 116794

Cannon, Stephen C.

2020

Volltextzugriff (PDF)

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

Neurology, 2016-03, Vol.86 (13), p.1190

2016

Volltextzugriff (PDF)

Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3766-3774

2013

Volltextzugriff (PDF)

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Journal of neurology, 2019-07, Vol.266 (7), p.1623-1632

2019

Volltextzugriff (PDF)

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

Neurology, 2011-11, Vol.77 (22), p.1960-1964

2011

Volltextzugriff (PDF)

Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome

Clinical neurophysiology, 2018-03, Vol.129 (3), p.558-559

2018

Volltextzugriff (PDF)

Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport

Muscle & nerve, 2019-09, Vol.60 (3), p.311-314

2019

Volltextzugriff (PDF)

Correlating phenotype and genotype in the periodic paralyses

Neurology, 2004-11, Vol.63 (9), p.1647-1655

2004

Volltextzugriff (PDF)

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

Neuromuscular disorders : NMD, 2015-12, Vol.25 (12), p.955-958

2015

Volltextzugriff (PDF)

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

Muscle & nerve, 2014-09, Vol.50 (3), p.327-332

2014

Volltextzugriff (PDF)

Hypokalemic periodic paralysis due to CACNA1S gene mutation

Neurosciences, 2019-07, Vol.24 (3), p.225-230

2019

Volltextzugriff (PDF)

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

The Journal of physiology, 2010-06, Vol.588 (11), p.1879-1886

2010

Volltextzugriff (PDF)

Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

Muscle & nerve, 2013-01, Vol.47 (1), p.41-45

2013

Volltextzugriff (PDF)

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Journal of neurology, neurosurgery and psychiatry, 2016-01, Vol.87 (1), p.49-52

2016

Volltextzugriff (PDF)

1 – 25 von 82

Suche als RSS-Feed

Aktive Filter

ThemaNeurosciences & Neurology

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(82)
Mit Volltextzugriff
(64)

Publikationsform

Artikel
(82)

Sprache

Englisch
(82)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(82)
Science & Technology
(82)
Humans
(79)
Clinical Neurology
(75)
Hypokalemic Periodic Paralysis - Genetics
(60)
Neurosciences
(55)
Male
(47)
Mutation
(40)
Adult
(39)
Female
(35)
Neurology
(34)
Biological And Medical Sciences
(31)
Hypokalemic Periodic Paralysis
(31)
Medical Sciences
(30)
Calcium Channels - Genetics
(22)
Hypokalemic Periodic Paralysis - Physiopathology
(22)
Pedigree
(22)
Adolescent
(21)
Middle Aged
(21)

14 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Prevalence study of genetically defined skeletal muscle channelopathies in England

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Atypical presentation of hypokalemic periodic paralysis: A case report

Hypokalemic periodic paralysis: a 3-year follow-up study

Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes

Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing

Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients

Skeletal Muscle Channelopathies

Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome

Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport

Correlating phenotype and genotype in the periodic paralyses

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

Hypokalemic periodic paralysis due to CACNA1S gene mutation

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Aktive Filter

Suchergebnisse filtern