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Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating

The Journal of physiology, 2017-08, Vol.595 (16), p.5671-5685

2017

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Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Neurology, 2009-05, Vol.72 (18), p.1544

2009

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Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions

Brain (London, England : 1878), 2007-12, Vol.130 (12), p.3265-3274

2007

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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

Neurology, 2010-07, Vol.75 (4), p.367

2010

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A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

Neurology, 2012-06, Vol.78 (24), p.1953

2012

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P46 Functional investigation of a novel mutation causing a new phenotype for the KCNA1 gene

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S19-S19

2014

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Improving genetic diagnosis and counselling for patients with myotoniacongenita

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S34-S34

2017

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Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

Journal of medical genetics, 2009-11, Vol.46 (11), p.786-791

2009

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P36 Progesterone reduces and shifts the voltage dependence of the skeletal muscle chloride conductance

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S16-S16

2012

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Sodium channelopathy of peripheral nerve: tightening the genotype–phenotype relationship

Brain (London, England : 1878), 2009-07, Vol.132 (7), p.1690-1692

2009

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G.P.101 New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.898-898

2012

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A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A

Neurology, 2009-09, Vol.73 (12), p.993

2009

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Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy

Science translational medicine, 2012-11, Vol.4 (161), p.161ra152

2012

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D.P.2.09 Non-genomic effects of sex hormones on ClC-1 may contribute to gender differences in myotonia congenita

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.745-745

2008

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PAW31 Clinical and genetic spectrum of the episodic ataxias: the UK perspective

Journal of neurology, neurosurgery and psychiatry, 2010-11, Vol.81 (11), p.e32-e32

2010

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Studies of NMDA Receptor Function and Stoichiometry with Truncated and Tandem Subunits

The Journal of neuroscience, 2003-02, Vol.23 (4), p.1151-1158

2003

Volltextzugriff (PDF)

Antagonism of ATP responses at P2X receptor subtypes by the pH indicator dye, Phenol red

British journal of pharmacology, 2005-06, Vol.145 (3), p.313-322

2005

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D.P.2.12 Episodic ataxia type 1 in identical twins

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.746-746

2008

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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Nature communications, 2015-09, Vol.6 (1), p.8038-8038, Article 8038

2015

Volltextzugriff (PDF)

Maximum likelihood fitting of single channel NMDA activity with a mechanism composed of independent dimers of subunits

The Journal of physiology, 2005-12, Vol.569 (2), p.395-418

2005

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Genetic Predictors of the Maximum Doses Patients Receive during Clinical Use of the Anti-Epileptic Drugs Carbamazepine and Phenytoin

Proceedings of the National Academy of Sciences - PNAS, 2005-04, Vol.102 (15), p.5507-5512

2005

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Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenital

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S165

2017

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P.230 - Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenital

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S165-S165

2017

Volltextzugriff (PDF)

NMJ+C05 - Improving genetic diagnosis and counselling for patients with myotoniacongenita

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S34-S34

2017

Volltextzugriff (PDF)

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Neurology, 2012-11, Vol.79 (22), p.2194

2012

Volltextzugriff (PDF)

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Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

P46 Functional investigation of a novel mutation causing a new phenotype for the KCNA1 gene

Improving genetic diagnosis and counselling for patients with myotoniacongenita

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

P36 Progesterone reduces and shifts the voltage dependence of the skeletal muscle chloride conductance

Sodium channelopathy of peripheral nerve: tightening the genotype–phenotype relationship

G.P.101 New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A

Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy

D.P.2.09 Non-genomic effects of sex hormones on ClC-1 may contribute to gender differences in myotonia congenita

PAW31 Clinical and genetic spectrum of the episodic ataxias: the UK perspective

Studies of NMDA Receptor Function and Stoichiometry with Truncated and Tandem Subunits

Antagonism of ATP responses at P2X receptor subtypes by the pH indicator dye, Phenol red

D.P.2.12 Episodic ataxia type 1 in identical twins

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Maximum likelihood fitting of single channel NMDA activity with a mechanism composed of independent dimers of subunits

Genetic Predictors of the Maximum Doses Patients Receive during Clinical Use of the Anti-Epileptic Drugs Carbamazepine and Phenytoin

Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenital

P.230 - Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenital

NMJ+C05 - Improving genetic diagnosis and counselling for patients with myotoniacongenita

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

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