Works matching DE "MYOTONIA"

Results: 165

Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers.

Published in:

2025

By:

Tayade, Kamalesh;
Ghadi, Vishakha;
Asole, Dynaneshwar;
Bharote, Haresh;
Venkatachalam, Anil

Publication type:

Letter

Schwartz-Jampel Syndrome Mimicking Myotonia Congenita.

Published in:

2019

By:

Padmanabha, Hansashree;
Mathew, Thomas;
Manjusha T.;
Manjusha, T

Publication type:

Case Study

Idiopathic hypoparathyroidism with clinical and electrophysiological myotonia- An unusual occurrence.

Published in:

2018

By:

Mathukumalli, Neeharika L.;
Kanikannan, Meena A.;
Shaik, Jabeen A.;
Kandadai, Mridula R.

Publication type:

Case Study

Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy.

Published in:

2013

By:

Desaphy, Jean-François;
Modoni, Anna;
LoMonaco, Mauro;
Camerino, Diana

Publication type:

Letter

Konjenital Miyotoni: Becker Varyantı Olgu Sunumu.

Published in:

Bosphorus Medical Journal / Boğaziçi Tıp Dergisi, 2022, v. 9, n. 4, p. 272, doi. 10.14744/bmj.2022.52244

By:

Akşahin, Okan;
Şenol, Mehmet Güney

Publication type:

Article

Ulnar Nerve Decompression in a Patient with Myotonia Congenita under Regional Anaesthesia in a Daycase Setting: A Case Report.

Published in:

Ambulatory Surgery, 2025, v. 31, n. 1, p. 11

By:

Miglani, A.;
Hughes, L. M.;
Bossut, C.;
Nestor, C. C.

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

The role of surface electromyography in the assessment of myotonia in Parkinson's disease.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2024, v. 24, n. 3, p. 158, doi. 10.3969/j.issn.1672-6731.2024.03.008

By:

LIU Zai-chao;
JIAO Yue;
LI Juan;
CHEN Xian-wen

Publication type:

Article

Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 5, p. 349, doi. 10.3969/j.issn.1672-6731.2019.05.009

By:

ZHONG Jie;
LIN Jin-fu;
ZHANG Cheng;
ZHONG Xin-jing;
CHEN Xue-ling;
LI Jing;
ZHU Yu-ling

Publication type:

Article

MYOSITIS AND MYOTONIA IN A CASE OF MULTICENTRIC RETICULOHISTIOCYTOSIS.

Published in:

British Journal of Dermatology, 1968, v. 80, n. 1, p. 39, doi. 10.1111/j.1365-2133.1968.tb11904.x

By:

Anderson, T. E.;
Carr, A. J.;
Chapman, B. R. S.;
Downie, A. W.;
Maclean, G. D.

Publication type:

Article

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child.

Published in:

2001

By:

Gempel, Klaus;
von Praun, Caroline;
Baumkötter, Jochen;
Lehnert, Willy;
Ensenauer, Regina;
Gerbitz, Klaus-Dieter;
Bauer, Matthias F.;
Gempel, K;
von Praun, C;
Baumkötter, J;
Lehnert, W;
Ensenauer, R;
Gerbitz, K D;
Bauer, M F

Publication type:

journal article

Inherited ion channel disorders.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S199, doi. 10.1007/PL00014403

By:

Surtees, Robert

Publication type:

Article

Spectrum of inherited myotonias and periodic paralyses.

Published in:

Neurosciences, 2017, v. 22, n. 1, p. 176

By:

Al-Tahan, Abdelrahman Y.

Publication type:

Article

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

Published in:

2010

By:

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

Publication type:

Correction Notice

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 921, doi. 10.1038/ejhg.2008.39

By:

Trip, Jeroen;
Drost, Gea;
Verbove, Dennis J;
van der Kooi, Anneke J;
Kuks, Jan B M;
Notermans, Nicolette C;
Verschuuren, Jan J;
de Visser, Marianne;
van Engelen, Baziel G M;
Faber, Carin G;
Ginjaar, Ieke B

Publication type:

Article

Measuring quality of life impairment in skeletal muscle channelopathies.

Published in:

European Journal of Neurology, 2012, v. 19, n. 11, p. 1470, doi. 10.1111/j.1468-1331.2012.03751.x

By:

Sansone, V. A.;
Ricci, C.;
Montanari, M.;
Apolone, G.;
Rose, M.;
Meola, G.

Publication type:

Article

CZY AUTOAUGMENTACJA PĘCHERZA (DETRUSOTOMIA, MYOTOMIA) MOŻE BYĆ NADAL UZNAWANA ZA METODĘ SKUTECZNĄ?

Published in:

Przeglad Pediatryczny, 2007, v. 37, n. 1, p. 75

By:

Skobejko-Włodarska, Lidia;
Felberg, Karina;
Gastoł, Piotr;
Baka-Ostrowska, Małgorzata

Publication type:

Article

Myotonia in DNM2-related centronuclear myopathy.

Published in:

Journal of Neural Transmission, 2014, v. 121, n. 5, p. 549, doi. 10.1007/s00702-013-1140-8

By:

Dabby, Ron;
Sadeh, Menachem;
Gilad, Ronit;
Jurkat-Rott, Karin;
Lehmann-Horn, Frank;
Leshinsky-Silver, Esther

Publication type:

Article

Reversal of fortune.

Published in:

Nature Genetics, 2006, v. 38, n. 9, p. 976, doi. 10.1038/ng0906-976

By:

Timchenko, Lubov

Publication type:

Article

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Published in:

Nature Genetics, 2000, v. 26, n. 4, p. 480, doi. 10.1038/82638

By:

Nicole, Sophie;
Davoine, Claire-Sophie;
Topaloglu, Haluk;
Cattolico, Laurence;
Barral, Duarte;
Beighton, Peter;
Hamida, Christiane Ben;
Hammouda, Hadi;
Cruaud, Corinne;
White, Peter S.;
Samson, Delphine;
Urtizberea, J. Andoni;
Lehmann-Horn, Franck;
Weissenbach, Jean;
Hentati, Faycal;
Fontaine, Bertrand

Publication type:

Article

The Association of Myotonia Congenita and Ankylosing Spondylitis.

Published in:

European Journal of General Medicine, 2013, v. 10, n. 1, p. 63

By:

Bağçacı, Sinan;
Albayrak, İlknur;
Karakaşlı, Sema;
Küçükşen, Sami;
Sallı, Ali

Publication type:

Article

Muscle ankyrin repeat proteins: their role in striated muscle function in health and disease.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2011, v. 48, n. 5/6, p. 269, doi. 10.3109/10408363.2011.643857

By:

Kojic, Snezana;
Radojkovic, Dragica;
Faulkner, Georgine

Publication type:

Article

A 45-year history of acquired autoimmune neuromyotonia.

Published in:

Journal of Neurology, 2006, v. 253, n. 9, p. 1243, doi. 10.1007/s00415-006-0172-5

By:

Ryan, Aisling;
Mullins, Gerard;
Scott, Jacqui;
Connolly, Sean;
Hardiman, Orla;
Yilmaz, Emrullah;
Vincent, Angela;
Lynch, Tim

Publication type:

Article

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.

Published in:

Journal of Neurology, 2006, v. 253, n. 7, p. 957, doi. 10.1007/s00415-006-0134-y

By:

Poujois, Aurélia;
Antoine, Jean-Christophe;
Combes, Agnès.;
Touraine, Renaud Laurian

Publication type:

Article

Ocular neuromyotonia with both tonic and paroxysmal components due to vascular compression.

Published in:

Journal of Neurology, 2005, v. 252, n. 2, p. 227, doi. 10.1007/s00415-005-0612-7

By:

Versino, Maurizio;
Colnaghi, Silvia;
Todeschini, Alessandra;
Candeloro, Elisa;
Ravaglia, Sabrina;
Moglia, Arrigo;
Cosi, Vittorio

Publication type:

Article

Myotonic dystrophy type 2 and related myotonic disorders.

Published in:

Journal of Neurology, 2004, v. 251, n. 10, p. 1173, doi. 10.1007/s00415-004-0590-1

By:

Meola, Giovanni;
Moxley III, Richard T.

Publication type:

Article

Myotonia Congenita in a Young Active Man.

Published in:

Physician & Sportsmedicine, 2004, v. 32, n. 7, p. 18, doi. 10.3810/psm.2004.07.449

By:

Chew, Kelvin T.L.;
Wong, Yue-Shuen;
Teoh, Hock-Luen;
Lim, Erle C. H.

Publication type:

Article

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

Published in:

Pflügers Archiv: European Journal of Physiology, 2010, v. 460, n. 2, p. 239, doi. 10.1007/s00424-010-0814-4

By:

Jurkat-Rott, Karin;
Holzherr, Boris;
Fauler, Michael;
Lehmann-Horn, Frank

Publication type:

Article

Muskuläre Kanalopathien.

Published in:

Der Nervenarzt, 2011, v. 82, n. 4, p. 511, doi. 10.1007/s00115-011-3269-8

By:

Jurkat-Rott, K.;
Lerche, H.;
Lehmann-Horn, F.

Publication type:

Article

Multiple Pilomatricomas and Myotonic Dystrophy.

Published in:

Journal of Dermatologic Surgery & Oncology, 1991, v. 17, n. 9, p. 728, doi. 10.1111/j.1524-4725.1991.tb03426.x

By:

Street, Marcy L.;
Rogers III., Roy S.

Publication type:

Article

Schwartz-Jampel syndrome is not related to malignant hyperthermia.

Published in:

2017

By:

Godai, Kohei

Publication type:

Letter

Successful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz-Jampel syndrome.

Published in:

JA Clinical Reports, 2016, v. 2, n. 1, p. 1, doi. 10.1186/s40981-016-0062-5

By:

Mukaihara, Keika;
Godai, Kohei;
Yamada, Tomotsugu;
Hasegawa-Moriyama, Maiko;
Kanmura, Yuichi

Publication type:

Article

Mechanisms of a Human Skeletal Myotonia Produced by Mutation in the C-Terminus of NaV1.4: Is Ca2+ Regulation Defective?

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081063

By:

Biswas, Subrata;
DiSilvestre, Deborah A.;
Dong, Peihong;
Tomaselli, Gordon F.

Publication type:

Article

ZNF9 Activation of IRES-Mediated Translation of the Human ODC mRNA Is Decreased in Myotonic Dystrophy Type 2.

Published in:

PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009301

By:

Sammons, Morgan A.;
Antons, Amanda K.;
Bendjennat, Mourad;
Udd, Bjarne;
Krahe, Ralf;
Link, Andrew J.

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

Late-onset mitochondrial disorder with electromyographic evidence of myotonia.

Published in:

Muscle & Nerve, 2003, v. 28, n. 6, p. 757, doi. 10.1002/mus.10492

By:

Mathew L.P. Howse;
Theresa M. Wardell;
Christopher J. Fisher;
Peter J.B. Tilley;
Patrick F. Chinnery

Publication type:

Article

Repetitive CMAPs: mechanisms of neural and synaptic genesis.

Published in:

1996

By:

van Dijk, J. Gert;
Lammers, Gert Jan;
Wintzen, Axel R.;
Molenaar, Peter C.;
van Dijk, J G;
Lammers, G J;
Wintzen, A R;
Molenaar, P C

Publication type:

journal article

Neuromyotonia, peripheral neuropathy and myasthenia gravis.

Published in:

1996

By:

Martinelli, Paolo;
Patuelli, Alberto;
Minardi, Chiara;
Cau, Adriana;
Riviera, Anna Maria;
Dal Pozzo, F.;
Martinelli, P;
Patuelli, A;
Minardi, C;
Cau, A;
Riviera, A M

Publication type:

journal article

MUSCLE VISCOELASTIC STIFFNESS DURING MUSCLE CONTRACTION AND INHIBITION.

Published in:

Kinesiologia Slovenica, 2011, v. 17, n. 3, p. 32

By:

Juhart, Katarina;
Strojnik, Vojko

Publication type:

Article

Myotonia in a child with muscle hypertrophy.

Published in:

Indian Pediatrics, 2017, v. 54, n. 1, p. 58, doi. 10.1007/s13312-017-1000-y

By:

Tanigasalam, Vasanthan

Publication type:

Article

A Self-Report Investigation of Two Types of Myotonic Response during Sexual Orgasm.

Published in:

Journal of Sex Research, 1974, v. 10, n. 1, p. 10, doi. 10.1080/00224497409550821

By:

Bunzl, Martin;
Mullen, Stephen

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

Motor and F wave hyperexcitability in Neuromyotonia: A rare observation.

Published in:

International Journal of Pharmaceutical Research (09752366), 2020, v. 12, n. 1, p. 1575, doi. 10.31838/ijpr/2020.12.01.256

By:

RATHORE, CHATURBHUJ;
PRAKASH, SANJAY;
BANDLISH, DEEPAK;
RANA, KAUSHIK

Publication type:

Article

Long-term outcome of myotonia associated with hyperadrenocorticism in 2 dogs.

Published in:

2015

By:

Noriyuki Nagata;
Masashi Yuki

Publication type:

Case Study

Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 14, n. 2, p. 1104, doi. 10.3892/etm.2017.4579

By:

CHUNRONG LI;
XIAOLING ZHANG;
CHUNKUI ZHOU;
LIJUN ZHU;
KANGDING LIU;
SHAOKUAN FANG

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

Mexiletine for Treatment of Myotonia: A Trial Triumph for Rare Disease Networks.

Published in:

JAMA: Journal of the American Medical Association, 2012, v. 308, n. 13, p. 1377, doi. 10.1001/jama.2012.12906

By:

Hoffman, Eric P.;
Kaminski, Henry J.

Publication type:

Article

Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia: A Randomized Controlled Trial.

Published in:

JAMA: Journal of the American Medical Association, 2012, v. 308, n. 13, p. 1357, doi. 10.1001/jama.2012.12607

By:

Statland, Jeffrey M.;
Bundy, Brian N.;
Yunxia Wang;
Raja Rayan, Dipa;
Trivedi, Jaya R.;
Sansone, Valeria A.;
Salajegheh, Mohammad K.;
Venance, Shannon L.;
Ciafaloni, Emma;
Matthews, Emma;
Meola, Giovanni;
Herbelin, Laura;
Griggs, Robert C.;
Barohn, Richard J.;
Hanna, Michael G.

Publication type:

Article

Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies.

Published in:

Neuropsychiatric Disease & Treatment, 2017, v. 13, p. 133, doi. 10.2147/NDT.S123908

By:

Banach, Marta;
Antczak, Jakub;
Rola, Rafał

Publication type:

Article

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 355, doi. 10.1111/cge.12954

By:

Santoro, M.;
Masciullo, M.;
Silvestri, G.;
Novelli, G.;
Botta, A.

Publication type:

Article