(Q33929913)

30 July 2017

1 reference

title

Disorders of membrane channels or channelopathies (English)

1 reference

30 July 2017

Celesia GG

1

1 reference

30 July 2017

1 January 2001

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30 July 2017

Clinical Neurophysiology

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30 July 2017

112

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30 July 2017

2-18

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30 July 2017

1

1 reference

Molecular cloning and regional distribution of a human proton receptor subunit with biphasic functional properties

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A potassium channel mutation in neonatal human epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Molecular properties of sodium and calcium channels

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Impaired nociception and pain sensation in mice lacking the capsaicin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A sensory neuron-specific, proton-gated ion channel

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Neurological channelopathies: diagnosis and therapy in the new millennium

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Structural and functional diversity of voltage-activated calcium channels.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Exocytotic Ca2+ channels in mammalian central neurons

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Ca2+ permeation in cyclic nucleotide-gated channels

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Congenital myasthenic syndromes: recent advances

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Diseases caused by voltage-gated ion channels

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1–25.3

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Physiological analysis of Rasmussen's encephalitis: patch clamp recordings of altered inhibitory neurotransmitter function in resected frontal cortical tissue

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutations of sodium channels in periodic paralysis: can they explain the disease and predict treatment?

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Functional reconstitution of a heteromeric cyclic nucleotide-gated channel of Caenorhabditis elegans in cultured cells

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Voltage-gated ion channels and hereditary disease

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutations causing muscle weakness

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Synaptic vesicle abnormality in familial infantile myasthenia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Single-channel currents recorded from membrane of denervated frog muscle fibres

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

In vivo development of nicotinic acetylcholine receptor channels in Xenopus myotomal muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Rasmussen's encephalitis with concomitant cortical dysplasia: the role of GluR3.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Founder mutations and the high prevalence of myotonia congenita in northern Finland

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

The place of migraine as a channelopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

unc-8, a DEG/ENaC family member, encodes a subunit of a candidate mechanically gated channel that modulates C. elegans locomotion

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

CACNA1A mutations: hemiplegic migraine, episodic ataxia type 2, and the others

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

A Drosophila mechanosensory transduction channel

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

1 reference

7 January 2021

Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Progressive ataxia due to a missense mutation in a calcium-channel gene

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

Mechanically gated channel activity in cytoskeleton-deficient plasma membrane blebs and vesicles from Xenopus oocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900496-X

7 January 2021

10.1016/S1388-2457(00)00496-X

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

11137655