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A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

Neurology, 2011-07, Vol.77 (3), p.269-275

2011

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Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

Neurology, 2010-04, Vol.74 (14), p.1108-1117

2010

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Muscle channelopathies and critical points in functional and genetic studies

The Journal of clinical investigation, 2005-08, Vol.115 (8), p.2000-2009

2005

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Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals

Journal of neurology, 2013-10, Vol.260 (10), p.2606-2613

2013

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Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations

Neurology, 2007-11, Vol.69 (22), p.2045-2053

2007

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Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav1.4 cause periodic paralysis

Clinical genetics, 2017-06, Vol.91 (6), p.859-867

2017

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In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita

Acta anaesthesiologica Scandinavica, 2013-09, Vol.57 (8), p.1017-1023

2013

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Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II

Neurology, 2005-06, Vol.64 (12), p.2145-2147

2005

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Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

Acta neurologica Scandinavica, 2010-02, Vol.121 (2), p.131-135

2010

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Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy

Neurology, 2011-12, Vol.77 (23), p.2017-2024

2011

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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

Annals of neurology, 1999-09, Vol.46 (3), p.305-312

1999

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Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Na v 1.4 cause periodic paralysis

Clinical genetics, 2017-06, Vol.91 (6), p.859-867

2017

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Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degeneration

Journal of neurology, 2012-11, Vol.259 (11), p.2385-2392

2012

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Hereditäre Muskelkanalopathien

Nervenheilkunde, 2011, Vol.30 (10), p.765-775

2011

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Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre

Acta myologica, 2008-12, Vol.27 (3), p.98-113

2008

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Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

Neurology, 2004-05, Vol.62 (10), p.1857-1861

2004

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Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness

Neurology, 2006-10, Vol.67 (7), p.1151

2006

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Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

Nature genetics, 1994-03, Vol.6 (3), p.267-272

1994

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Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family

Neurology, 2001-10, Vol.57 (7), p.1191-1198

2001

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The patch clamp technique in ion channel research

Current pharmaceutical biotechnology, 2004-08, Vol.5 (4), p.387-395

2004

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S45-4 Periodic paralysis

Clinical neurophysiology, 2010, Vol.121, p.S65-S65

2010

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S44-5 Chloride and sodium channel myotonias

Clinical neurophysiology, 2010, Vol.121, p.S64-S64

2010

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Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation

Neurology, 2005-10, Vol.65 (7), p.1083-1089

2005

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Xenon does not induce contracture in human malignant hyperthermia muscle

British journal of anaesthesia : BJA, 2000-11, Vol.85 (5), p.712-716

2000

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135. Electrophysiological decrement and transient weakness in myotonic syndromes

Clinical neurophysiology, 2012-06, Vol.123 (6), p.e55-e55

2012

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A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

Muscle channelopathies and critical points in functional and genetic studies

Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations

Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav1.4 cause periodic paralysis

In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita

Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Na v 1.4 cause periodic paralysis

Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degeneration

Hereditäre Muskelkanalopathien

Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family

The patch clamp technique in ion channel research

S45-4 Periodic paralysis

S44-5 Chloride and sodium channel myotonias

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation

Xenon does not induce contracture in human malignant hyperthermia muscle

135. Electrophysiological decrement and transient weakness in myotonic syndromes

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