Lista de obras - Karin Jurkat-Rott - Dominio Público Uruguay

7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

artículo científico publicado en 2016

A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle

artículo científico publicado en 2009

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

artículo científico publicado en 2004

A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia

artículo científico publicado en 2014

Complications of anaesthesia in neuromuscular disorders

artículo científico publicado en 2005

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

artículo científico publicado en 2003

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy

artículo científico publicado en 2015

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

artículo científico publicado en 2016

Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity

artículo científico publicado en 2007

Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.

artículo científico publicado en 2007

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis

artículo científico publicado en 2007

Hereditary Channelopathies in Neurology ⬇️

artículo científico publicado el 1 de enero de 2010

High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study

artículo científico publicado en 2017

Hyperkalemic Periodic Paralysis and Permanent Weakness: 3-T MR Imaging Depicts Intracellular23Na Overload—Initial Results ⬇️

artículo científico publicado el 16 de abril de 2012

In vivo 35Cl MR imaging in humans: a feasibility study

artículo científico publicado en 2014

Ion channel defects in idiopathic epilepsies

artículo científico publicado en 2005

Ion channels and ion transporters of the transverse tubular system of skeletal muscle

artículo científico publicado en 2006

K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

scholarly article

Muscle channelopathies and critical points in functional and genetic studies

artículo científico publicado en 2005

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

artículo científico publicado en 2014

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

artículo científico publicado en 2014

Paroxysmal muscle weakness: the familial periodic paralyses

artículo científico publicado en 2006

Pathophysiological Role of Omega Pore Current in Channelopathies ⬇️

artículo científico publicado el 11 de junio de 2012

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

artículo científico publicado en 2004

Periodic paralysis: understanding channelopathies

artículo científico publicado en 2002

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine ⬇️

artículo científico publicado el 4 de julio de 2013

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

artículo científico publicado en 2015

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

artículo científico publicado en 2005

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

artículo científico publicado en 2015

Sight: automating genomic data-mining without programming skills

artículo científico publicado en 2004

Skeletal muscle channelopathies

artículo científico publicado en 2002

Sodium channelopathies of skeletal muscle result from gain or loss of function

artículo científico publicado en 2010

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients ⬇️

artículo científico publicado el 1 de octubre de 2012

The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits

artículo científico publicado en 2003

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation

artículo científico publicado en 2013

Lista de obras de Karin Jurkat-Rott

7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia

Complications of anaesthesia in neuromuscular disorders

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity

Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis

Hereditary Channelopathies in Neurology ⬇️

High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study

Hyperkalemic Periodic Paralysis and Permanent Weakness: 3-T MR Imaging Depicts Intracellular23Na Overload—Initial Results ⬇️

In vivo 35Cl MR imaging in humans: a feasibility study

Ion channel defects in idiopathic epilepsies

Ion channels and ion transporters of the transverse tubular system of skeletal muscle

K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

Muscle channelopathies and critical points in functional and genetic studies

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Paroxysmal muscle weakness: the familial periodic paralyses

Pathophysiological Role of Omega Pore Current in Channelopathies ⬇️

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

Periodic paralysis: understanding channelopathies

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine ⬇️

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

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

Sight: automating genomic data-mining without programming skills

Skeletal muscle channelopathies

Sodium channelopathies of skeletal muscle result from gain or loss of function

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients ⬇️

The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation