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#1
Grete Andersen
Grete Andersen
Known for star star star star star
Myotonia Muscle | Dystrophia Myotonica | Pure Channelopathies | Congenita Hyperkalmisk
#2
Jean-François Desaphy
Jean-François Desaphy
Dipartimento di Scienze Biomediche e Oncologia Umana, Scuola di Medicina, Università degli Studi di Bari Aldo Moro, Piazza Giulio Cesare, 70124 Bari, Italy;, jfdesaphy@gmail.com
Known for star star star star star_border
Skeletal Muscle | Myotonia Congenita | Sodium Channels | Ion Channel

#3
MARK M. RICH
MARK M. RICH
Wright State University, Dayton, Ohio, USA
Known for star star star star star_border
Critical Illness | Myotonia Congenita | Neuromuscular Junction | Sodium Channel
#4
Concetta Altamura
Concetta Altamura
Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari Aldo Moro, Policlinico, piazza Giulio Cesare, 70126, Bari, Italy.
Known for star star star star star_border
Myotonia Congenita | Ion Channels | Skeletal Muscle | Carbonic Anhydrase Inhibitors
#5
Frank Lehmann-Horn
Frank Lehmann-Horn
Fascia Research Project, Institut für Angewandte Physiologie, Universität Ulm, Deutschland
Known for star star star star star_border
Malignant Hyperthermia | Skeletal Muscle | Paramyotonia Congenita | Periodic Paralysis
#6
Paola Imbrici
Paola Imbrici
Institute of Neurology, University College London, Queen Square, London, United Kingdom
Known for star star star star star_border
Myotonia Congenita | Episodic Ataxia | Ion Channels | Skeletal Muscle
#7
Kevin R. Novak
Kevin R. Novak
Department of Neuroscience, Cell Biology, and Physiology, Wright State University School of Medicine, 3640 Colonel Glenn Hwy, Dayton, OH, 45435, USA
Known for star star star star star_border
Myotonia Congenita | Transient Weakness | Critical Illness | Sodium Channel
#8
Ahmed A. Hawash
Ahmed A. Hawash
From the Department of Neurology (W.D.A., A.S., A.B., J.T.K.), The Ohio State University Wexner Medical Center; Center for Biostatistics (D.K.), Department of Biomedical ...
Known for star star star star star_border
Myotonia Congenita | Transient Weakness | 2 Immune Response | Keloid Scars
#9
Kenneth W. Ricker
Kenneth W. Ricker
Department of Neurology (Prof. Dr. med. H. G. Mertens, Head), University, Hospital, Würzburg, West Germany
Known for star star star star star_border
Myotonic Dystrophy | Paramyotonia Congenita | Adynamia Episodica | Myasthenia Gravis
#10
Raffaella Brugnoni
Raffaella Brugnoni
Laboratory NBS Biotech, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy
Known for star star star star star_border
Myotonia Congenita | Skeletal Muscle Channelopathies | Growth Factor | Cacna1a Gene
#11
Michael G. Hanna
Michael G. Hanna
University Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
Known for star star star star star_border
Episodic Ataxia | Periodic Paralysis | Mitochondrial Dna | Skeletal Muscle Channelopathies
#12
Renato Emilio Mantegazza
Renato Emilio Mantegazza
Myopathology and Immunology Unit, Neurological Institute Foundation “C Besta”, Milan, Italy
Known for star star star star star_border
Myasthenia Gravis | Mdx Mouse | Amyotrophic Lateral Sclerosis | Acetylcholine Receptor
#13
Bertrand Fontaine
Bertrand Fontaine
ICM Institut du Cerveau, CNRS UMR7225, INSERM U1127, Sorbonne Université, Hôpital de la Pitié-Salpêtrière, Paris, France Sorbonne Université, AP-HP, Hôpital Pitié-Salpêtrière, ...
Known for star star star star star_border
Periodic Paralysis | Molecular Diagnosis | Paramyotonia Congenita | Skeletal Muscle
#14
Tsung-Yu Chen
Tsung-Yu Chen
Biophysics Graduate Program, University of California, Davis, California, United States of America BMCDB Graduate Program, University of California, Davis, California, United ...
Known for star star star star star_border
Slow Gating | Chloride Channel | Myotonia Congenita | Plasma Membrane
#15
Karin Jurkat‐Rott
Karin Jurkat‐Rott
From Institut für Angewandte Physiologie (T.V.W., K.J.-R., M.G., F.L.-H., H.L.) and Neurologische Klinik (T.V.W., M.G., H.L.), Universität Ulm; and Abteilung Klinische ...
Known for star star star star star_border
Malignant Hyperthermia | Skeletal Muscle | Periodic Paralysis | Myotonia Congenita
#16
Chih‐Yung Tang
Chih‐Yung Tang
Department of Physiology, National Taiwan University, Taipei 100, Taiwan, the
Known for star star star star star_border
Myotonia Congenita | Plasma Membrane | Xenopus Oocytes | Tonic Inhibition
#17
Andrew A. Voss
Andrew A. Voss
David Geffen School of Medicine at UCLA, Department of Physiology, 10833 Le Conte Avenue, 53-263 Center for Health Sciences, Los Angeles, CA 90095-1751, USA. avoss@mednet.ucla.edu
Known for star star star star star_border
Myotonia Congenita | Transient Weakness | Extracellular Atp | Imino Sugars

 

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Open Label Trial Of Ranolazine In Myotonia Congenita, Paramyotonia Congenita, &...

[ CLINICAL_TRIAL ] ... of myotonia congenital, paramyotonia congenita, and myotonic dystrophy type 1. The duration of the study is 5 weeks. Detailed Description Recent advances in the understanding of myotonia ...
Known for star star star star star
Myotonia Congenita | Myotonic Dystrophy | Drug Ranolazine | Safe Effective

Lamotrigine As Treatment Of Myotonia. Better Treatment Of Muscle Diseases.

[ CLINICAL_TRIAL ] ... 2, Myotonia Congenita, Paramyotonia Congenita, Hyperkalmisk periodic paralysis and Potassium-Aggravated myotonia. Genetically, mutations in chloride, sodium or calcium ion channels in the ...
Known for star star star star star_border
Muscle Myotonia | Dystrophia Myotonica | Pure Channelopathies | Hyperkalmisk Periodic

A Phase Iii, Randomised, Double Blinded, Head-To-Head, Single-Site, Cross-Over...

[ CLINICAL_TRIAL ] ... of myotonia in patients with Non-Dystrophic Myotonia.Non-dystrophic Myotonia is a genetic condition for which there is no cure. It affects patients for the duration of their life and ...
Known for star star star star star_border
Dystrophic Myotonia | Mexiletine Lamotrigine | Sodium Channel | Muscle Membrane

Efficacy And Safety Of Mexiletine In Non-Dystrophic Myotonias. Mexiletine And Non...

[ CLINICAL_TRIAL ] ... non-dystrophic myotonias are based on selective case reports, clinical experience and theoretical benefit. Presently, the most promising antimyotonic medication is mexiletine (MEX) but its ...
Known for star star star star star_border
Dystrophic Myotonias | Mexiletine Myotonia | Selective Reports | Theoretical Benefit

Clc‐1 Mutations In Myotonia Congenita Patients: Insights Into Molecular Gating...

[ PUBLICATION ] ... cause myotonia congenita with variable phenotypes. Using patch clamp we show that F484L, located in the conducting pore, probably induces mild dominant myotonia by right-shifting the slow ...
Known for star star star star star_border
Myotonia Congenita | Molecular Gating | Phenotype Correlation | Clc-1 Function

Multidisciplinary Study Of A New Clc-1 Mutation Causing Myotonia Congenita: A...

[ PUBLICATION ] ... biopsies
Known for star star star star star_border
Clc-1 Mutation | Myotonia Congenita | Ion Channelopathies | T335n Channels

Defective Gating And Proteostasis Of Human Clc-1 Chloride Channel: Molecular...

[ PUBLICATION ] ... disease, myotonia congenita. Most disease-causing CLCN1 mutations lead to loss-of-function phenotypes
Known for star star star star star_border
Myotonia Congenita | Chloride Channel | Molecular Pathophysiology | Defective Gating

The Mechanism Underlying Transient Weakness In Myotonia Congenita

[ PUBLICATION ] ... recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We made intracellular recordings ...
Known for star star star star star_border
Transient Weakness | Myotonia Congenita | Plateau Potentials | Intracellular Recordings

Myotonia Congenita: Novel Mutations In Clcn1 Gene

[ PUBLICATION ] ... mutatio
Known for star star star star star_border
Myotonia Congenita | Clcn1 Gene | Autosomal Dominant | Recessive Form

Dystrophia Myotonica And Myotonia Congenita Concurring In One Family. A Clinical...

[ PUBLICATION ] ... had myotonia congenita. A study was made of the paternal and maternal families and of the offspring of the 5 siblings. Eighty relatives were examined clinically, by slit-lamp and by ...
Known for star star star star star_border
Myotonia Congenita | Dystrophia Myotonica | Alternative Hypothesis | Lutheran Genes