Works matching Myotonic dystrophy

Results: 2405

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

"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

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

Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I.

Published in:

Journal of Assisted Reproduction & Genetics, 2008, v. 25, n. 1, p. 1, doi. 10.1007/s10815-007-9193-y

By:

Sahu, Banchhita;
Ozturk, Ozkan;
Deo, Nandita;
Fordham, Karen;
Ranierri, Massimo;
Serhal, Paul

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

The myotonic dystrophy type 2 ( DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

Published in:

Neuropathology & Applied Neurobiology, 2010, v. 36, n. 4, p. 275, doi. 10.1111/j.1365-2990.2010.01068.x

By:

Massa, R.;
Panico, M. B.;
Caldarola, S.;
Fusco, F. R.;
Sabatelli, P.;
Terracciano, C.;
Botta, A.;
Novelli, G.;
Bernardi, G.;
Loreni, F.

Publication type:

Article

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I.

Published in:

Genes, 2020, v. 11, n. 9, p. 1109, doi. 10.3390/genes11091109

By:

López-Martínez, Andrea;
Soblechero-Martín, Patricia;
de-la-Puente-Ovejero, Laura;
Nogales-Gadea, Gisela;
Arechavala-Gomeza, Virginia

Publication type:

Article

Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature.

Published in:

2019

By:

Sasson, Sarah C.;
Corbett, Alastair;
McLachlan, Andrew J.;
Chen, R.;
Adelstein, S. A.;
Riminton, Sean;
Limaye, Sandhya

Publication type:

journal article

Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2.

Published in:

European Neurology, 2020, v. 83, n. 5, p. 523, doi. 10.1159/000511237

By:

Wenninger, Stephan;
Stahl, Kristina;
Montagnese, Federica;
Schoser, Benedikt

Publication type:

Article

Sleep Disturbances in Myotonic Dystrophy Type 2.

Published in:

European Neurology, 2012, v. 68, n. 6, p. 377, doi. 10.1159/000342895

By:

Shepard, Paul;
Lam, Erek M.;
St. Louis, Erik K.;
Dominik, Jacob

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

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

LIMITED ORTHODONTIC TREATMENT IN MYOTONIC DYSTROPHY II.

Published in:

Romanian Journal of Neurology, 2017, v. 16, n. 4, p. 158, doi. 10.37897/rjn.2017.4.5

By:

Enache, Aurelia Magdalena;
Marghescu, Alexandru;
Baluta, Roxana Antoanela;
Blajin, Maria Otilia;
Pomana, Maria Cristina

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

Az ischaemiás stroke kockázati tényezői a dystrophia myotonica 1-es típusában.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 49, p. 1962, doi. 10.1556/650.2022.32620

By:

Varga, Dávid;
Perecz, Brigitta;
Sípos, Andrea;
Jedlicska, Dalma;
Pál, Endre

Publication type:

Article

Effective doses of vecuronium in a patient with myotonic dystrophy.

Published in:

Anaesthesia, 2004, v. 59, n. 12, p. 1216, doi. 10.1111/j.1365-2044.2004.03926.x

By:

Nishi, M.;
Itoh, H.;
Tsubokawa, T.;
Taniguchi, T.;
Yamamoto, K.

Publication type:

Article

A combined technique utilising regional anaesthesia and target-controlled sedation in a patient with myotonic dystrophy.

Published in:

Anaesthesia, 2002, v. 57, n. 4, p. 385, doi. 10.1046/j.1365-2044.2002.02374.x

By:

Aquilina, A;
Groves, J

Publication type:

Article

Increased levels of tPA antigen and tPA/PAI-1 complex in myotonic dystrophy.

Published in:

2001

By:

Johansson, Å.;
Boman, K.;
Cederquist, K.;
Forsberg, H.;
Olsson, T.;
Johansson, A

Publication type:

journal article

Alternative splicing of human insulin receptor gene ( INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2.

Published in:

Molecular & Cellular Biochemistry, 2013, v. 380, n. 1/2, p. 259, doi. 10.1007/s11010-013-1681-z

By:

Santoro, Massimo;
Masciullo, Marcella;
Bonvissuto, Davide;
Bianchi, Maria;
Michetti, Fabrizio;
Silvestri, Gabriella

Publication type:

Article

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

Published in:

Acta Neuropathologica, 2010, v. 119, n. 4, p. 465, doi. 10.1007/s00401-010-0637-6

By:

Vihola, Anna;
Bachinski, Linda L.;
Sirito, Mario;
Olufemi, Shodimu-Emmanuel;
Hajibashi, Shohrae;
Baggerly, Keith A.;
Raheem, Olayinka;
Haapasalo, Hannu;
Suominen, Tiina;
Holmlund-Hampf, Jeanette;
Paetau, Anders;
Cardani, Rosanna;
Meola, Giovanni;
Kalimo, Hannu;
Edström, Lars;
Krahe, Ralf;
Udd, Bjarne

Publication type:

Article

Comparative morphometric evaluation of peripheral nerves and muscle fibers in myotonic dystrophy.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 1, p. 39, doi. 10.1007/PL00007404

By:

Wang, J. -F.;
Schröder, J. M.

Publication type:

Article

Congenital myotonic dystrophy.

Published in:

2005

By:

Upadhyay, K.;
Thomson, A.;
Luckas, M. J. M.

Publication type:

journal article

Doppler Echocardiographic Assessment of Left Ventricular Diastolic Function in Myotonic Dystrophy.

Published in:

Cardiology, 1997, v. 88, n. 6, p. 498, doi. 10.1159/000177398

By:

Vincenzo Fragola, Pietro;
Caló, Leonardo;
Luzi, Mario;
Mammarella, Antonio;
Antonini, Giovanni

Publication type:

Article

The Natural Course of Cardiac Conduction Disturbances in Myotonic Dystrophy.

Published in:

Cardiology, 1991, v. 79, n. 2, p. 93, doi. 10.1159/000174865

By:

Fragola, Pietro V.;
Autore, Camillo;
Magni, Giuseppina;
Antonini, Giovanni;
Picelli, Antonella;
Cannata, Dario

Publication type:

Article

24-Hour Electrocardiographic Study in Myotonic Dystrophy.

Published in:

Cardiology, 1988, v. 75, n. 4, p. 241, doi. 10.1159/000174380

By:

Forsberg, Håkan;
Olofsson, Bert-Ove;
Andersson, Staffan;
Henriksson, Anders;
Bjerle, Per

Publication type:

Article

Ambulatory Electrocardiographic Monitoring in Myotonic Dystrophy (Steinert's Disease).

Published in:

Cardiology, 1987, v. 74, n. 5, p. 362, doi. 10.1159/000174223

By:

Fragola, P.V.;
Ruscitti, G.C.;
Autore, C.;
Antonini, G.;
Capria, A.;
Fiorito, S.;
Vichi, R.;
Pennisi, E.;
Cannata, D.

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

Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2<sup>*</sup> Relaxometry: A Magnetic Resonance Imaging Study at 3 Tesla.

Published in:

Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01320

By:

Ates, Sevda;
Deistung, Andreas;
Schneider, Ruth;
Prehn, Christian;
Lukas, Carsten;
Reichenbach, Jürgen R.;
Schneider-Gold, Christiane;
Bellenberg, Barbara

Publication type:

Article

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.

Published in:

Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.01071

By:

Higgs, Cecilia;
Hilbert, James E.;
Wood, Libby;
Martens, William B.;
Marini-Bettolo, Chiara;
Nikolenko, Nikoletta;
Alsaggaf, Rotana;
Lochmüller, Hanns;
Moxley, Richard T.;
Greene, Mark H.;
Wang, Youjin;
Gadalla, Shahinaz M.

Publication type:

Article

TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2.

Published in:

Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00992

By:

Bosè, Francesca;
Renna, Laura Valentina;
Fossati, Barbara;
Arpa, Giovanni;
Labate, Valentina;
Milani, Valentina;
Botta, Annalisa;
Micaglio, Emanuele;
Meola, Giovanni;
Cardani, Rosanna

Publication type:

Article