Works matching DE "MYOTONIA congenita"

Results: 100

Diagnostic Crossroads: Coexistence of Myotonic Dystrophy Type 1 and Hirayama Disease in a Case Report.

Published in:

2025

By:

Dudhatra, Ashutosh V.;
Arora, Ronak K.;
Poncha, Fali F.

Publication type:

Letter

Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features.

Published in:

Korean Journal of Physiology & Pharmacology, 2017, v. 21, n. 4, p. 439, doi. 10.4196/kjpp.2017.21.4.439

By:

Hyung Jin Chin;
Chan Hyeong Kim;
Kotdaji Ha;
Jin Hong Shin;
Dae-Seong Kim;
Insuk So

Publication type:

Article

Different flecainide sensitivity of hNav 1.4 channels and myotonic mutants explained by state-dependent block.

Published in:

Journal of Physiology, 2004, v. 554, n. 2, p. 321, doi. 10.1113/jphysiol.2003.046995

By:

Desaphy, Jean-François;
Luca, Annamaria D. E.;
Didonna, Maria Paola;
George Jr., Alfred L.;
Camerino, Diana Conte

Publication type:

Article

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

Published in:

Journal of Physiology, 2004, v. 554, n. 3, p. 635, doi. 10.1113/jphysiol.2003.053082

By:

Bouhours, Magali;
Sternberg, Damien;
Davoine, Claire-Sophie;
Ferrer, Xavier;
Willer, Jean Claude;
Fontaine, Bertrand;
Tabti, Nacira

Publication type:

Article

Mexiletine block of wild-type and inactivation-deficient human skeletal muscle hNav1.4 Na+ channels.

Published in:

Journal of Physiology, 2004, v. 554, n. 3, p. 621, doi. 10.1113/jphysiol.2003.054973

By:

Wang, Ging Kuo;
Russell, Corinna;
Wang, Sho-Ya

Publication type:

Article

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 738, doi. 10.1038/sj.ejhg.5201218

By:

Dunø, Morten;
Colding-Jørgensen, Eskild;
Grunnet, Morten;
Jespersen, Thomas;
Vissing, John;
Schwartz, Marianne

Publication type:

Article

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 903, doi. 10.1038/sj.ejhg.5200736

By:

Sun, Chen;
Tranebjærg, Lisbeth;
Torbergsen, Torberg;
Holmgren, Gösta;
Van Ghelue, Marijke

Publication type:

Article

Becker congenital myotonia in black African with molecular findings.

Published in:

2022

By:

Azonbakin, Simon;
Adovoekpe, Diane;
Adjagba, Marius;
Alao, Jules;
Sagbo, Gratien;
Adjien, Constant;
Laleye, Anatole

Publication type:

Case Study

Myotonia congenita in a Jack Russell terrier.

Published in:

2009

By:

Lobetti, R. G.

Publication type:

Case Study

Botulinum toxin in myotonia congenita: it does not help against rigidity and pain.

Published in:

Journal of Neural Transmission, 2014, v. 121, n. 5, p. 531, doi. 10.1007/s00702-013-1136-4

By:

Dressler, Dirk;
Adib Saberi, Fereshte

Publication type:

Article

Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.

Published in:

Journal of Neurology, 2004, v. 251, n. 6, p. 666, doi. 10.1007/s00415-004-0383-6

By:

Jou, Shuo-Bin;
Chang, Ling-I;
Pan, Huichin;
Chen, Pei-Ru;
Hsiao, Kuang-Ming

Publication type:

Article

BK channels promote action potential repolarization in skeletal muscle but contribute little to myotonia.

Published in:

Pflügers Archiv: European Journal of Physiology, 2024, v. 476, n. 11, p. 1693, doi. 10.1007/s00424-024-03005-z

By:

Dupont, Chris;
Blake, Brianna;
Voss, Andrew A.;
Rich, Mark M.

Publication type:

Article

Protein kinase C theta (PKCθ) modulates the ClC-1 chloride channel activity and skeletal muscle phenotype: a biophysical and gene expression study in mouse models lacking the PKCθ.

Published in:

Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 12, p. 2215, doi. 10.1007/s00424-014-1495-1

By:

Camerino, Giulia;
Bouchè, Marina;
Bellis, Michela;
Cannone, Maria;
Liantonio, Antonella;
Musaraj, Kejla;
Romano, Rossella;
Smeriglio, Piera;
Madaro, Luca;
Giustino, Arcangela;
Luca, Annamaria;
Desaphy, Jean-François;
Camerino, Diana;
Pierno, Sabata

Publication type:

Article

Binding of galectin-1 (gal-1) to the Thomsen–Friedenreich (TF) antigen on trophoblast cells and inhibition of proliferation of trophoblast tumor cells in vitro by gal-1 or an anti-TF antibody.

Published in:

Histochemistry & Cell Biology, 2006, v. 126, n. 4, p. 437, doi. 10.1007/s00418-006-0178-1

By:

Jeschke, Udo;
Karsten, Uwe;
Wiest, Irmi;
Schulze, Sandra;
Kuhn, Christina;
Friese, Klaus;
Walzel, Hermann

Publication type:

Article

E-Posters, EP1.

Published in:: BJOG: An International Journal of Obstetrics & Gynaecology, 2013, v. 120, p. 19, doi. 10.1111/1471-0528.12293
Publication type:: Article

Comparison of Myotonic, Kiko, and Spanish Sires for Meat Goat Doe-Kid Traits.

Published in:

Journal of Animal Science, 2024, v. 102, p. 89, doi. 10.1093/jas/skae019.107

By:

Hayes, Emily G.;
Meador, Heather;
Browning, Richard

Publication type:

Article

ClC-1 CHLORIDE CHANNEL: MATCHING ITS PROPERTIES TO A ROLE IN SKELETAL MUSCLE.

Published in:

2006

By:

Aromataris, Edoardo C.;
Rychkov, Grigori Y.

Publication type:

Other

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109926

By:

Gandolfi, Barbara;
Daniel, Rob J.;
O'Brien, Dennis P.;
Guo, Ling T.;
Youngs, Melanie D.;
Leach, Stacey B.;
Jones, Boyd R.;
Shelton, G. Diane;
Lyons, Leslie A.

Publication type:

Article

Myotonia Congenita-Associated Mutations in Chloride Channel-1 Affect Zebrafish Body Wave Swimming Kinematics.

Published in:

PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0103445

By:

Cheng, Wei;
Tian, Jing;
Burgunder, Jean-Marc;
Hunziker, Walter;
Eng, How-Lung

Publication type:

Article

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082549

By:

Skálová, Daniela;
Zídková, Jana;
Voháňka, Stanislav;
Mazanec, Radim;
Mušová, Zuzana;
Vondráček, Petr;
Mrázová, Lenka;
Kraus, Josef;
Réblová, Kamila;
Fajkusová, Lenka

Publication type:

Article

Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055930

By:

Lee, Ting-Ting;
Zhang, Xiao-Dong;
Chuang, Chao-Chin;
Chen, Jing-Jer;
Chen, Yi-An;
Chen, Shu-Ching;
Chen, Tsung-Yu;
Tang, Chih-Yung

Publication type:

Article

Structural Basis for Distinct Binding Properties of the Human Galectins to Thomsen-Friedenreich Antigen.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025007

By:

Cheng-Feng Bian;
Ying Zhang;
Hui Sun;
De-Feng Li;
Da-Cheng Wang

Publication type:

Article

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

Published in:

Muscle & Nerve, 2003, v. 28, n. 6, p. 722, doi. 10.1002/mus.10501

By:

Morten Grunnet;
Thomas Jespersen;
Eskild Colding-Jørgensen;
Marianne Schwartz;
Dan A. Klaerke;
John Vissing;
Søren-Peter Olesen;
Morten Dunø

Publication type:

Article

Paramyotonia congenita due to a de novo mutation: A case report.

Published in:

Muscle & Nerve, 2003, v. 28, n. 2, p. 232, doi. 10.1002/mus.10396

By:

Takayasu Fukudome;
Hajime Izumoto;
Hirofumi Goto;
Hidenori Matsuo;
Toshiro Yoshimura;
Shun-Ichi Sakoda;
Noritoshi Shibuya

Publication type:

Article

Decrement of compound muscle action potential is related to mutation type in myotonia congenita.

Published in:

Muscle & Nerve, 2003, v. 27, n. 4, p. 449, doi. 10.1002/mus.10347

By:

Eskild Colding-Jørgensen;
Morten DunØ;
Marianne Schwartz;
John Vissing

Publication type:

Article

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.

Published in:

Neurological Research, 2016, v. 38, n. 1, p. 40, doi. 10.1080/01616412.2015.1114741

By:

Meng, Yan-Xin;
Zhao, Zhe;
Shen, Hong-Rui;
Bing, Qi;
Hu, Jing

Publication type:

Article

Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

Published in:

Eye (0950-222X), 2012, v. 26, n. 8, p. 1039, doi. 10.1038/eye.2012.80

By:

Du, H;
Grob, S R;
Zhao, L;
Lee, J;
El-Sahn, M;
Hughes, G;
Luo, J;
Schaf, K;
Duan, Y;
Quach, J;
Wei, X;
Shaw, P;
Granet, D;
Zhang, K

Publication type:

Article

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 581, doi. 10.1038/jhg.2013.58

By:

Brugnoni, Raffaella;
Kapetis, Dimos;
Imbrici, Paola;
Pessia, Mauro;
Canioni, Eleonora;
Colleoni, Lara;
de Rosbo, Nicole Kerlero;
Morandi, Lucia;
Cudia, Paola;
Gashemi, Nasrin;
Bernasconi, Pia;
Desaphy, Jean-Francois;
Conte, Diana;
Mantegazza, Renato

Publication type:

Article

[image omitted]Reliability of the Zurich Neuromotor Assessment.

Published in:

Clinical Neuropsychologist, 2008, v. 22, n. 1, p. 60, doi. 10.1080/13854040601076702

By:

Rousson, Valentin;
Gasser, Theo;
Caflisch, Jon;
Largo, Remo

Publication type:

Article

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP ( ZNF9) gene.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 574, doi. 10.1111/j.1399-0004.2010.01616.x

By:

Sun, C;
Van Ghelue, M;
Tranebjærg, L;
Thyssen, F;
Nilssen, Ø;
Torbergsen, T

Publication type:

Article

MOLECULAR SCREENING OF FOUR CANINE HEREDITARY DISEASES IN TAIWAN.

Published in:

Taiwan Veterinary Journal, 2017, v. 43, n. 4, p. 277, doi. 10.1142/S1682648517500068

By:

Kuo, Ruei-Jia;
Liu, Chen-Hsuan;
Hsieh, Chin-Fong;
Jiang, Jia-Wei;
Liao, Albert Taiching

Publication type:

Article

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

Published in:

Acta Anaesthesiologica Scandinavica, 2013, v. 57, n. 8, p. 1017, doi. 10.1111/aas.12126

By:

HOPPE, K.;
LEHMANN‐HORN, F.;
CHAIKLIENG, S.;
JURKAT‐ROTT, K.;
ADOLPH, O.;
KLINGLER, W.

Publication type:

Article

In silico versus functional characterization of genetic variants: lessons from muscle channelopathies.

Published in:

2023

By:

Vivekanandam, Vinojini;
Ellmers, Rebecca;
Jayaseelan, Dipa;
Houlden, Henry;
Männikkö, Roope;
Hanna, Michael G

Publication type:

journal article

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Published in:

2022

By:

Suetterlin, Karen;
Matthews, Emma;
Sud, Richa;
McCall, Samuel;
Fialho, Doreen;
Burge, James;
Jayaseelan, Dipa;
Haworth, Andrea;
Sweeney, Mary G;
Kullmann, Dimitri M;
Schorge, Stephanie;
Hanna, Michael G;
Männikkö, Roope

Publication type:

journal article

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Published in:

2017

By:

Andersen, Grete;
Hedermann, Gitte;
Witting, Nanna;
Duno, Morten;
Andersen, Henning;
Vissing, John

Publication type:

journal article

Dominant LGMD2A: alternative diagnosis or hidden digenism?

Published in:

2017

By:

Sáenz, Amets;
López de Munain, Adolfo

Publication type:

Letter

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

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3265, doi. 10.1093/brain/awm248

By:

D. Fialho;
S. Schorge;
U. Pucovska;
N. P. Davies;
R. Labrum;
A. Haworth;
E. Stanley;
R. Sud;
W. Wakeling;
M. B. Davis;
D. M. Kullmann;
M. G. Hanna

Publication type:

Article

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

Published in:

2010

By:

Jarecki, Brian W.;
Piekarz, Andrew O.;
Jackson II, James O.;
Cummins, Theodore R.;
Piekarz, Andrew D;
Jackson, James O 2nd

Publication type:

journal article

Medical alert tattoos—A pinch of style along with patient safety.

Published in:

2018

By:

Lai, Emily A.;
Nesrsta, Eric A.;
Bodiford, Jason M.;
Jain, Ranu R.

Publication type:

Case Study

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.

Published in:

Neurology India, 2010, v. 58, n. 5, p. 743, doi. 10.4103/0028-3886.72163

By:

Feng Gao;
Fu Chan Ma;
Zhe Feng Yuan;
Cui Wei Yang;
Hai Feng Li;
Zhe Zhi Xia;
Quan Xiang Shui;
Ke Wen Jiang

Publication type:

Article

Becker's variant of myotonia congenita in two siblings- A clinico-genetic study.

Published in:

Neurology India, 2004, v. 52, n. 3, p. 363

By:

Bhattacharyya, Kalyan B.;
Sengupta, P.;
Basu, S.;
Bhattacharya, N.P.

Publication type:

Article

Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.

Published in:

Scientific Reports, 2015, p. 15382, doi. 10.1038/srep15382

By:

Ronstedt, Katharina;
Sternberg, Damien;
Detro-Dassen, Silvia;
Gramkow, Thomas;
Begemann, Birgit;
Becher, Toni;
Kilian, Petra;
Grieschat, Matthias;
Machtens, Jan-Philipp;
Schmalzing, Günther;
Fischer, Martin;
Fahlke, Christoph

Publication type:

Article

The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels.

Published in:

Animal Genetics, 2023, v. 54, n. 4, p. 483, doi. 10.1111/age.13312

By:

Van Poucke, Mario;
Stee, Kimberley;
Lowrie, Mark;
Peelman, Luc

Publication type:

Article

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.

Published in:

Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.972007

By:

Musa, Nurul Huda;
Thilakavathy, Karuppiah;
Mohamad, Nur Afiqah;
Kennerson, Marina L.;
Inche Mat, Liyana Najwa;
Wei Chao Loh;
Abdul Rashid, Anna Misyail;
Baharin, Janudin;
Ibrahim, Azliza;
Wan Sulaiman, Wan Aliaa;
Fan Kee Hoo;
Basri, Hamidon;
Khan Yusof Khan, Abdul Hanif

Publication type:

Article

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

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1753, doi. 10.1093/hmg/7.11.1753

By:

Kubisch, Christian;
Schmidt‐Rose, Thomas;
Fontaine, Bertrand;
Bretag, Allan H.;
Jentsch, Thomas J.

Publication type:

Article

THE CHOLINESTERASE CONTENT OF BLOOD SERA FROM NORMAL AND MYOPATHIC SUBJECTS.

Published in:

Australian Journal of Experimental Biology & Medical Science, 1938, v. 16, n. 1, p. 39, doi. 10.1038/icb.1938.4

By:

Hicks, C. Stanton;
Mackay, Margaret E.

Publication type:

Article

Kinetic Alterations in Resurgent Sodium Currents of Mutant Na v 1.4 Channel in Two Patients Affected by Paramyotonia Congenita.

Published in:

Biology (2079-7737), 2022, v. 11, n. 4, p. 613, doi. 10.3390/biology11040613

By:

Lee, Ming-Jen;
Lin, Pi-Chen;
Lin, Ming-Hong;
Chiou, Hsin-Ying Clair;
Wang, Kai;
Huang, Chiung-Wei

Publication type:

Article

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita.

Published in:

Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.958196

By:

Altamura, Concetta;
Conte, Elena;
Campanale, Carmen;
Laghetti, Paola;
Saltarella, Ilaria;
Camerino, Giulia Maria;
Imbrici, Paola;
Desaphy, Jean-François

Publication type:

Article

Propofol Reduces Succinylcholine-induced Muscle Rigidity in a Patient with Paramyotonia Congenita.

Published in:

2017

By:

Elsharydah, Ahmad;
Kaminski, Alexa C.

Publication type:

Case Study

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.

Published in:

European Journal of Neurology, 2025, v. 32, n. 5, p. 1, doi. 10.1111/ene.70157

By:

Periviita, Vesa;
Männikkö, Roope;
Jokela, Manu;
Sud, Richa;
Hanna, Michael G.;
Udd, Bjarne;
Palmio, Johanna

Publication type:

Article