Works matching Myotonic dystrophy

Results: 2421

Distrofia miotónica de Steinert: caso clínico de una familia y revisión de la bibliografía.

Published in:

Medicina Interna de Mexico, 2014, v. 30, n. 2, p. 195

By:

Flores-López, Eder Natanael;
Tovilla-Ruiz, Cintia Karina;
García-Padilla, Esmeralda;
Sandoval-Gutiérrez, Renata Beatriz;
Álvarez-Torrecilla, Luis Carlos

Publication type:

Article

Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients.

Published in:

1999

By:

Jinnai, Kenji;
Sugio, Toshiko;
Mitani, Maki;
Hashimoto, Kozo;
Takahashi, Keiichi;
Jinnai, K;
Sugio, T;
Mitani, M;
Hashimoto, K;
Takahashi, K

Publication type:

journal article

Miyotonik Distrofi Tanılı Hastada Anestezi Deneyimimiz.

Published in:

Journal of Anesthesia / Anestezi Dergisi (JARSS), 2019, v. 27, n. 3, p. 224, doi. 10.5222/jarss.2019.77486

By:

Ural, Sedef Gülçin;
İnal, Meltem Aktay

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

Rijedak slučaj bolesnika s miotoničkom distrofijom tipa 1 i multiplom sklerozom – prikaz slučaja.

Published in:

Medicina Fluminensis, 2024, v. 60, n. 2, p. 214, doi. 10.21860/medflum2024_316227

By:

Prenc, Matea;
Labinac, Dolores Janko;
Prenc, Lorena Radolović;
Bradić, Mirjana Flegarić

Publication type:

Article

Myotonic Dystrophies: A Genetic Overview.

Published in:

Genes, 2022, v. 13, n. 2, p. 367, doi. 10.3390/genes13020367

By:

Soltanzadeh, Payam

Publication type:

Article

Acute leg pain and weakness in pregnancy: A new diagnosis of myotonic dystrophy.

Published in:

Obstetric Medicine (1753-495X), 2023, v. 16, n. 4, p. 253, doi. 10.1177/1753495X221109738

By:

Heron, Vanessa C;
Thomas, Ashmitha;
Liu, Bonnia;
Crosthwaite, Amy A;
Skrzypek, Hannah;
McLean, Catriona A;
Paizis, Kathy

Publication type:

Article

KAMPTOKORMIJA I MIOTONIČNA DISTROFIJA TIP 2.

Published in:

Acta Medica Croatica, 2021, v. 75, n. 2, p. 167

By:

ČERIMAGIĆ, DENIS;
BILIĆ, ERVINA;
KES, VANJA BAŠIĆ

Publication type:

Article

Body composition analysis in patients with myotonic dystrophy types 1 and 2.

Published in:

2019

By:

Peric, Stojan;
Bozovic, Ivo;
Nisic, Tanja;
Banovic, Marija;
Vujnic, Milorad;
Svabic, Tamara;
Pesovic, Jovan;
Brankovic, Marija;
Basta, Ivana;
Jankovic, Milena;
Savic-Pavicevic, Dusanka;
Rakocevic-Stojanovic, Vidosava

Publication type:

journal article

Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13359, doi. 10.3390/ijms232113359

By:

De Serres-Bérard, Thiéry;
Ait Benichou, Siham;
Jauvin, Dominic;
Boutjdir, Mohamed;
Puymirat, Jack;
Chahine, Mohamed

Publication type:

Article

"Shake hands"; Diagnosing a floppy infant - Myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis.

Published in:

Journal of Perinatal Medicine, 2000, v. 28, n. 6, p. 497, doi. 10.1515/jpm.2000.067

By:

Verrijn Stuart, Annemarie A.;
Huisman, Monique;
van Straaten, Henrica L. M.;
Bakker, Jacco C.;
Arabin, Birgit

Publication type:

Article

Greater cortical thinning and microstructural integrity loss in myotonic dystrophy type 1 compared to myotonic dystrophy type 2.

Published in:

Journal of Neurology, 2024, v. 271, n. 8, p. 5525, doi. 10.1007/s00415-024-12511-0

By:

Krieger, Britta;
Schneider-Gold, Christiane;
Genç, Erhan;
Güntürkün, Onur;
Prehn, Christian;
Bellenberg, Barbara;
Lukas, Carsten

Publication type:

Article

High disease impact of myotonic dystrophy type 2 on physical and mental functioning.

Published in:

Journal of Neurology, 2011, v. 258, n. 10, p. 1820, doi. 10.1007/s00415-011-6027-8

By:

Tieleman, Alide;
Jenks, Kathleen;
Kalkman, Joke;
Borm, George;
Engelen, Baziel

Publication type:

Article

Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 18, p. 5459, doi. 10.3390/jcm13185459

By:

Trucco, Federica;
Lizio, Andrea;
Roma, Elisabetta;
di Bari, Alessandra;
Salmin, Francesca;
Albamonte, Emilio;
Casiraghi, Jacopo;
Pozzi, Susanna;
Becchiati, Stefano;
Antonaci, Laura;
Salvalaggio, Anna;
Catteruccia, Michela;
Tosi, Michele;
Marinella, Gemma;
Danti, Federica R.;
Bruschi, Fabio;
Veneruso, Marco;
Parravicini, Stefano;
Fiorillo, Chiara;
Berardinelli, Angela

Publication type:

Article

Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase

Published in:

FEBS Letters, 2003, v. 546, n. 2/3, p. 281, doi. 10.1016/S0014-5793(03)00601-X

By:

Zhang, Rongxin;
Epstein, Henry F.

Publication type:

Article

Effects of age and gene dose on skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase.

Published in:

Muscle & Nerve, 2002, v. 25, n. 6, p. 850, doi. 10.1002/mus.10127

By:

Reddy, Sita;
Mistry, Dilaawar J.;
Wang, Qing Cai;
Geddis, Lisa M.;
Kutchai, Howard C.;
Moorman, J. Randall;
Mounsey, J. Paul

Publication type:

Article

Clinical and genetic heterogeneity in myotonic dystrophies.

Published in:

2000

By:

Meola, Giovanni;
Meola, G

Publication type:

journal article

Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype.

Published in:

Acta Neuropathologica, 2000, v. 100, n. 5, p. 513, doi. 10.1007/s004010000216

By:

Endo, A.;
Motonaga, Kozo;
Arahata, Kiichi;
Harada, Kensuke;
Yamada, Tsutomu;
Takashima, Sachio

Publication type:

Article

Altered expression and splicing of Ca<sup>2+</sup> metabolism genes in myotonic dystrophies DM1 and DM2.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 4, p. 390, doi. 10.1111/j.1365-2990.2012.01289.x

By:

Vihola, A.;
Sirito, M.;
Bachinski, L. L.;
Raheem, O.;
Screen, M.;
Suominen, T.;
Krahe, R.;
Udd, B.

Publication type:

Article

Distrofia miotónica de Steinert. Presentación de un caso.

Published in:

MediSur, 2017, v. 15, n. 1, p. 120

By:

Comas Valdespino, Rafael Lorenzo;
Davis, Alain Landrian;
Ruíz, Melissa Serra

Publication type:

Article

Myotonická dystrofie - jednota v různosti.

Published in:

Česká a Slovenská Neurologie a Neurochirurgie, 2017, v. 80, n. 3, p. 255, doi. 10.14735/amcsnn2017255

By:

Voháňka, S.

Publication type:

Article

Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis.

Published in:

Pediatrics International, 2005, v. 47, n. 5, p. 586, doi. 10.1111/j.1442-200x.2005.02104.x

By:

Sumi, Muneichiro;
Kusumoto, Takashi;
Tagawa, Masato;
Kondoh, Tatsuro;
Ohno, Yasuharu;
Masuzaki, Hideaki;
Ishimaru, Tadayuki;
Moriuchi, Hiroyuki

Publication type:

Article

Anesthetic management of a patient with myotonic dystrophy for a Nissen fundoplication and gastrostomy.

Published in:

Pediatric Anesthesia, 2004, v. 14, n. 8, p. 693, doi. 10.1111/j.1460-9592.2004.01280.x

By:

Jenkins, J.A.;
Facer, E.K.

Publication type:

Article

Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer.

Published in:

Archives of Dermatological Research, 2010, v. 302, n. 3, p. 169, doi. 10.1007/s00403-009-0997-8

By:

Zemtsov, Alexander

Publication type:

Article

Breathing Pattern Awake and Asleep in Myotonic Dystrophy.

Published in:

Respiration, 1996, v. 63, n. 1, p. 1, doi. 10.1159/000196508

By:

Ververs, Carin C.M.;
Van der Meché, Frans G.A.;
Verbraak, Anton F.M.;
van der Sluys, Hans C.M.;
Bogaard, Jan M.

Publication type:

Article

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

Published in:

PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213381

By:

Gliem, Carla;
Minnerop, Martina;
Roeske, Sandra;
Gärtner, Hanna;
Schoene-Bake, Jan-Christoph;
Adler, Sandra;
Witt, Juri-Alexander;
Hoffstaedter, Felix;
Schneider-Gold, Christiane;
Betz, Regina C.;
Helmstaedter, Christoph;
Tittgemeyer, Marc;
Amunts, Katrin;
Klockgether, Thomas;
Weber, Bernd;
Kornblum, Cornelia

Publication type:

Article

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.

Published in:

Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00101

By:

Gourdon, Genevieve;
Meola, Giovanni

Publication type:

Article

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.

Published in:

Frontiers in Molecular Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnmol.2013.00057

By:

Caillet-Boudin, Marie-Laure;
Fernandez-Gomez, Francisco-Jose;
Tran, Hélène;
Dhaenens, Claire-Marie;
Buee, Luc;
Sergeant, Nicolas

Publication type:

Article

Cardiac involvement in patients with myotonic dystrophy: Characteristic features of magnetic resonance imaging.

Published in:

European Heart Journal, 1995, v. 16, n. 7, p. 1007, doi. 10.1093/oxfordjournals.eurheartj.a061011

By:

AMBROGGI, L. DE;
RAISARO, A.;
MARCHIANÒ, V.;
RADICE, S.;
MEOLA, G.

Publication type:

Article

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Published in:

2018

By:

Wood, Libby;
Bassez, Guillaume;
Bleyenheuft, Corinne;
Campbell, Craig;
Cossette, Louise;
Jimenez-Moreno, Aura Cecilia;
Dai, Yi;
Dawkins, Hugh;
Manera, Jorge Alberto Diaz;
Dogan, Celine;
el Sherif, Rasha;
Fossati, Barbara;
Graham, Caroline;
Hilbert, James;
Kastreva, Kristinia;
Kimura, En;
Korngut, Lawrence;
Kostera-Pruszczyk, Anna;
Lindberg, Christopher;
Lindvall, Bjorn

Publication type:

journal article

Endocrine Dysfunction in Patients With Myotonic Dystrophy.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 10, p. 2819, doi. 10.1210/clinem/dgab430

By:

Winters, Stephen J.

Publication type:

Article

The Assessment of A Family With Myotonic Dystrophy.

Published in:

2004

By:

KoÇ, A. Filiz;
Zorludem&idot;r, Suzan;
Sarica, Yakup

Publication type:

Case Study

Pseudohyperkalemia in myotonic dystrophy type 1: A case report.

Published in:

2024

By:

Hatano, Taku;
Uchida, Toyoyoshi;
Hayashi, Hidemori;
Hattori, Nobutaka

Publication type:

Case Study

A family with both X‐linked dominant Charcot–Marie–Tooth disease and myotonic dystrophy type 1 mutations with phenotypic variations.

Published in:

Neurology & Clinical Neuroscience, 2019, v. 7, n. 2, p. 88, doi. 10.1111/ncn3.12251

By:

Mori, Chiaki;
Nakatani, Rie;
Nakamori, Masayuki;
Matsumura, Tsuyoshi;
Takahashi, Masanori P.;
Fujimura, Harutoshi;
Mochizuki, Hideki;
Sakoda, Saburo

Publication type:

Article

A giant uterine tumor in a woman with myotonic dystrophy.

Published in:

Clinical Case Reports, 2017, v. 5, n. 4, p. 539, doi. 10.1002/ccr3.864

By:

Kataoka, Hiroshi;
Ueno, Satoshi

Publication type:

Article

The Role of the Atrial Electromechanical Delay in Predicting Atrial Fibrillation in Myotonic Dystrophy Type 1 Patients.

Published in:

Journal of Cardiovascular Electrophysiology, 2016, v. 27, n. 1, p. 65, doi. 10.1111/jce.12821

By:

RUSSO, VINCENZO;
RAGO, ANNA;
CIARDIELLO, CARMINE;
RUSSO, MARIA GIOVANNA;
CALABRÒ, PAOLO;
POLITANO, LUISA;
NIGRO, GERARDO

Publication type:

Article

Long-Term Arrhythmia Follow-Up of Patients with Myotonic Dystrophy.

Published in:

Journal of Cardiovascular Electrophysiology, 2015, v. 26, n. 3, p. 305, doi. 10.1111/jce.12604

By:

BENHAYON, DANIEL;
LUGO, RICARDO;
PATEL, RUTUKE;
CARBALLEIRA, LIDIA;
ELMAN, LAUREN;
COOPER, JOSHUA M.

Publication type:

Article

Pacemaker and Implantable Cardioverter-Defibrillator Use in a US Myotonic Dystrophy Type 1 Population.

Published in:

Journal of Cardiovascular Electrophysiology, 2011, v. 22, n. 12, p. 1369, doi. 10.1111/j.1540-8167.2011.02200.x

By:

BHAKTA, DEEPAK;
SHEN, CHANGYU;
KRON, JACK;
EPSTEIN, ANDREW E.;
PASCUZZI, ROBERT M.;
GROH, WILLIAM J.

Publication type:

Article

Severity of Cardiac Conduction Involvement and Arrhythmias in Myotonic Dystrophy Type 1 Correlates with Age and CTG Repeat Length.

Published in:

Journal of Cardiovascular Electrophysiology, 2002, v. 13, n. 5, p. 444, doi. 10.1046/j.1540-8167.2002.00444.x

By:

Groh, William J.;
Lowe, Miriam R.;
Zipes, Douglas P.

Publication type:

Article

Localization of the Sites of Conduction Abnormalities in a Mouse Model of Myotonic Dystrophy.

Published in:

Journal of Cardiovascular Electrophysiology, 1999, v. 10, n. 9, p. 1214, doi. 10.1111/j.1540-8167.1999.tb00298.x

By:

Saba, Samir;
Vanderbrink, Brian A.;
Luciano, Brenda;
Aronovitz, Mark J.;
Berul, Charles I.;
Reddy, Sita;
Housman, David;
Mendelsohn, Michael E.;
Estes III, Mark;
Wang, Paul J.

Publication type:

Article

Cardiac autonomic function in type 1 and type 2 myotonic dystrophy.

Published in:

Clinical Autonomic Research, 2017, v. 27, n. 3, p. 193, doi. 10.1007/s10286-017-0413-y

By:

Bienias, Piotr;
Łusakowska, Anna;
Ciurzyński, Michał;
Rymarczyk, Zuzanna;
Irzyk, Katarzyna;
Konwerski, Michał;
Ciąpała, Kamil;
Kowalski, Paweł;
Kamińska, Anna;
Pruszczyk, Piotr

Publication type:

Article

Fenotipo asociado al diagnóstico clínico precoz de la distrofia miotónica tipo 1.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Licourt-Otero, Deysi;
Orraca-Castillo, Miladys;
Osmin Tamargo-Barbeito, Teddy

Publication type:

Article

Delineación epidemiológica y fenotípica de la distrofia miotónica de Steinert.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2021, v. 25, n. 4, p. 1

By:

Licourt Otero, Deysi;
Candelaria Gómez, Belkys;
Pérez Martín, Martha María;
Hernández Triguero, Yanet;
Sainz Padrón, Laisi;
Díaz Hernández, Ilena Aurora

Publication type:

Article

Reporte de familias con distrofia miotónica de Steinert pesquisadas en la Atención Primaria de Salud.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2020, v. 24, n. 6, p. 1

By:

Licourt Otero, Deysi;
González García, Raúl;
Contreras Contreras, Yazmin

Publication type:

Article

Kongenitalna miotonička distrofija - prikaz bolesnika.

Published in:

Paediatria Croatica, 2014, v. 58, n. 4, p. 278, doi. 10.13112/pc.598

By:

Delin, Sanja;
Pavić, Linda;
Sasso, Antun;
Barbarić, Irena;
Krakar, Goran;
Nađ, Ida

Publication type:

Article

Living with adult-onset myotonic dystrophy type 1: a scoping review.

Published in:

Disability & Rehabilitation, 2025, v. 47, n. 9, p. 2246, doi. 10.1080/09638288.2024.2396063

By:

Allergodt, Kristin;
Dreyer, Pia;
Werlauff, Ulla;
Handberg, Charlotte

Publication type:

Article

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1.

Published in:

Disability & Rehabilitation, 2022, v. 44, n. 12, p. 2615, doi. 10.1080/09638288.2020.1837264

By:

Raymond, Kateri;
Levasseur, Mélanie;
Gallais, Benjamin;
Richer, Louis;
Laberge, Luc;
Petitclerc, Émilie;
Mathieu, Jean;
Gagnon, Cynthia

Publication type:

Article

Meet and eat, an interdisciplinary group intervention for patients with myotonic dystrophy about healthy nutrition, meal preparation, and consumption: a feasibility study.

Published in:

Disability & Rehabilitation, 2020, v. 42, n. 11, p. 1561, doi. 10.1080/09638288.2018.1528305

By:

van Hees, Suzanne G. M.;
Knuijt, Simone;
Dicke, Heleen;
Groothuis, Jan T.;
Raaphorst, Joost;
Satink, Ton;
Cup, Edith H. C.

Publication type:

Article

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy.

Published in:

Disability & Rehabilitation, 2019, v. 41, n. 24, p. 2972, doi. 10.1080/09638288.2018.1482376

By:

Jimenez-Moreno, Aura Cecilia;
Charman, Sarah J.;
Nikolenko, Nikoletta;
Larweh, Maxwell;
Turner, Chris;
Gorman, Grainne;
Lochmüller, Hanns;
Catt, Michael

Publication type:

Article

Oral health in children and adolescents with myotonic dystrophy.

Published in:

European Journal of Oral Sciences, 2007, v. 115, n. 3, p. 192, doi. 10.1111/j.1600-0722.2007.00446.x

By:

Engvall, Monica;
Sjögreen, Lotta;
Kjellberg, Heidrun;
Robertson, Agneta;
Sundell, Sten;
Kiliaridis, Stavros

Publication type:

Article