Works matching Myotonic dystrophy

Results: 2315

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

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

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 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

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

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

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

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

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

"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

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

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

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

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

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

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

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

Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3'untranslated region transcripts.

Published in:

EMBO Reports, 2005, v. 6, n. 5, p. 458, doi. 10.1038/sj.embor.7400390

By:

Mastroyiannopoulos, Nikolaos P.;
Feldman, Mariana L.;
Uney, James B.;
Mahadevan, Mani S.;
Phylactou, Leonidas A.

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

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.

Published in:

Neuroepidemiology, 2022, v. 56, n. 3, p. 163, doi. 10.1159/000524734

By:

Liao, Qiao;
Zhang, Yihao;
He, Jian;
Huang, Kun

Publication type:

Article

Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis.

Published in:

Case Reports in Gastroenterology, 2010, v. 4, n. 1, p. 100, doi. 10.1159/000292093

By:

Bhardwaj, Rishi R.;
Duchini, Andrea

Publication type:

Article

A patient with neurofibromatosis type 1 and myotonic dystrophy type 1.

Published in:

Neurology Asia, 2022, v. 27, n. 2, p. 503, doi. 10.54029/2022vsk

By:

Esra, Serdaroglu;
Ceren, Gunbey;
Banu, Anlar

Publication type:

Article

Myotonic dystrophy type 1 with anterior temporal white matter changes mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Published in:

Neurology Asia, 2020, v. 25, n. 3, p. 395

By:

Hyun Seung Kim;
Young Eun Kim;
Jeongjae Lee;
Hyeo-il Ma

Publication type:

Article

The Impact of Congenital and Childhood Myotonic Dystrophy on Quality of Life: A Qualitative Study of Associated Symptoms.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 7, p. 983, doi. 10.1177/0883073813484804

By:

Johnson, Nicholas E.;
Luebbe, Elizabeth;
Eastwood, Eileen;
Chin, Nancy;
Moxley, Richard T.;
Heatwole, Chad R.

Publication type:

Article

Homozygous Myotonic Dystrophy With Craniosynostosis.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 8, p. 930, doi. 10.1177/0883073808314965

By:

Cerghet, Mirela;
Tapos, Daniela;
Serajee, Fatema J.;
Mahbubul Huq, A. H. M.

Publication type:

Article

Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1.

Published in:

2022

By:

Fujino, Haruo;
Saito, Toshio;
Takahashi, Masanori P.;
Takada, Hiroto;
Nakayama, Takahiro;
Imura, Osamu;
Matsumura, Tsuyoshi

Publication type:

journal article

Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.

Published in:

2016

By:

Min Ji Kang;
Hye Bin Yim;
Hyung Bin Hwang;
Kang, Min Ji;
Yim, Hye Bin;
Hwang, Hyung Bin

Publication type:

journal article

Reassessment of the Specificity of Lens Opacities in Myotonic Dystrophy.

Published in:

Ophthalmic Research, 1996, v. 28, n. 4, p. 224, doi. 10.1159/000267907

By:

Giordano, M.;
Comoli, A.M.;
De Angelis, M.S.;
Mutani, R.;
Sebastiani, F.;
Momigliano-Richiardi, P.

Publication type:

Article

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

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1312, doi. 10.1093/hmg/ddy432

By:

Wang, Eric T;
Treacy, Daniel;
Eichinger, Katy;
Struck, Adam;
Estabrook, Joseph;
Olafson, Hailey;
Wang, Thomas T;
Bhatt, Kirti;
Westbrook, Tony;
Sedehizadeh, Sam;
Ward, Amanda;
Day, John;
Brook, David;
Berglund, J Andrew;
Cooper, Thomas;
Housman, David;
Thornton, Charles;
Burge, Christopher

Publication type:

Article

Management of anesthesia in a pediatric patient with myotonic dystrophy type 1. Case report.

Published in:

2018

By:

Alarcón-Pérez, Lleimi;
Pastor-Laín, Cristina;
Barragán-González, Lourdes;
Sarrais-Polo, Claudia;
López-Gil, María T.;
Mantilla-Martínez, Ignacio

Publication type:

Case Study

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

Myotonik Distrofide Kelebek Desenli Maküler Distrofi: Olgu Sunumu.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2017, v. 26, n. 3, p. 267

By:

DÖNMEZ, Oya;
ARIKAN, Gül;
ÖNER, Ferit Hakan

Publication type:

Article

Possible role of apamin-sensitive K<sup>+</sup> channels in myotonic dystrophy.

Published in:

Muscle & Nerve, 1994, v. 17, n. 11, p. 1264, doi. 10.1002/mus.880171104

By:

Behrens, María Isabel;
Jalil, Patricio;
Serani, Alejandro;
Vergara, Fernando;
Alvarez, Osvaldo

Publication type:

Article

Pulmonary thromboembolism in a patient with myotonic dystrophy type 1.

Published in:

Annals of Indian Academy of Neurology, 2012, v. 15, n. 4, p. 317, doi. 10.4103/0972-2327.104347

By:

Cho, Joong-Yang;
Seo, So-Young;
Cho, Yong-Jin;
Hong, Keun-Sik;
Park, Hee Kyung;
Lee, Ju Hyun;
Lee, Sung-Soon

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

Does modafinil enhance activity of patients with myotonic dystrophy?

Published in:

Journal of Neurology, 2007, v. 254, n. 1, p. 26, doi. 10.1007/s00415-006-0186-z

By:

Wintzen, A.R.;
Lammers, G.J.;
van Dijk, J.G.

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

The ultrastructural morphology of the muscle fiber in myotonic dystrophy.

Published in:

Acta Neuropathologica, 1968, v. 10, n. 3, p. 218, doi. 10.1007/BF00687725

By:

Schröder, J.;
Adams, R.

Publication type:

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

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.700796

By:

Miller, Jacob N.;
Kruger, Alison;
Moser, David J.;
Gutmann, Laurie;
van der Plas, Ellen;
Koscik, Timothy R.;
Cumming, Sarah A.;
Monckton, Darren G.;
Nopoulos, Peggy C.

Publication type:

Article

Focal Right Atrial Dysplasia and Atrial Flutter in a Patient with Myotonic Dystrophy.

Published in:

Pacing & Clinical Electrophysiology, 1989, v. 12, n. 8, p. 1317, doi. 10.1111/j.1540-8159.1989.tb05045.x

By:

Pickering, J. G.;
Guiraudon, C.;
Klein, G. J.

Publication type:

Article