Works matching Myotonia atrophica

Results: 1136

Increased Plasma Concentration of Atrial Natriuretic Hormone in Myotonic Dystrophy.

Published in:

European Neurology, 1998, v. 39, n. 4, p. 238, doi. 10.1159/000007941

By:

Parlapiano;
Antonini;
Vichi;
Fragola;
Campana;
Rota;
Borgia;
Tonnarini;
Negri

Publication type:

Article

Myotonic Dystrophies type 1 and 2: anesthetic care.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 9, p. 794, doi. 10.1111/pan.12120

By:

Veyckemans, Francis;
Scholtes, Jean-Louis

Publication type:

Article

The effect of rocuronium and sugammadex on neuromuscular blockade in a child with congenital myotonic dystrophy type 1.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 9, p. 871, doi. 10.1111/pan.12205

By:

Pickard, Amelia;
Lobo, Clinton;
Stoddart, Peter A.

Publication type:

Article

Risk factors for perioperative adverse events in children with myotonic dystrophy.

Published in:

Pediatric Anesthesia, 2009, v. 19, n. 8, p. 740, doi. 10.1111/j.1460-9592.2009.03079.x

By:

SINCLAIR, JOANNA L.;
REED, PETER W.

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

Prognosis of polymyositis and dermatomyositis.

Published in:

Clinical Rheumatology, 2007, v. 26, n. 1, p. 92, doi. 10.1007/s10067-006-0316-0

By:

Hui, A.;
Wong, S.;
Leung, T.

Publication type:

Article

Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances.

Published in:

Neuroradiology, 2021, v. 63, n. 7, p. 1019, doi. 10.1007/s00234-020-02611-9

By:

Cabada, T.;
Díaz, J.;
Iridoy, M.;
López, P.;
Jericó, I.;
Lecumberri, P.;
Remirez, B.;
Seijas, R.;
Gomez, M.

Publication type:

Article

DMPK is a New Candidate Mediator of Tumor Suppressor p53-Dependent Cell Death.

Published in:

Molecules, 2019, v. 24, n. 17, p. 3175, doi. 10.3390/molecules24173175

By:

Itoh, Katsuhiko;
Ebata, Takahiro;
Hirata, Hiroaki;
Torii, Takeru;
Sugimoto, Wataru;
Onodera, Keigo;
Nakajima, Wataru;
Uehara, Ikuno;
Okuzaki, Daisuke;
Yamauchi, Shota;
Budirahardja, Yemima;
Nishikata, Takahito;
Tanaka, Nobuyuki;
Kawauchi, Keiko

Publication type:

Article

Model Organisms in the Fight against Muscular Dystrophy: Lessons from Drosophila and Zebrafish.

Published in:

Molecules, 2015, v. 20, n. 4, p. 6237, doi. 10.3390/molecules20046237

By:

Plantié, Emilie;
Migocka-Patrzałek, Marta;
Daczewska, Małgorzata;
Jagla, Krzysztof

Publication type:

Article

Undiagnosed myotonic dystrophy: A case report and literature review.

Published in:

Medicine International (2754-3242), 2023, v. 3, n. 5, p. 1, doi. 10.3892/mi.2023.106

By:

TOMONORI YAMADA;
NATSUMI FUKANO;
KENTARO KAI;
YOSHIHIDE KURIBAYASHI;
MIKA JIKUMARU;
SATO SHETO;
YASUSHI KAWANO

Publication type:

Article

Myotonia may be a sign that prompts genetic testing for myotonic dystrophy type 1.

Published in:

European Research Journal, 2025, v. 11, n. 1, p. 74, doi. 10.18621/eurj.1553885

By:

Eser, Metin;
Hekimoğlu, Gulam;
Kutlubay, Büşra

Publication type:

Article

Repeat expansion disease: progress and puzzles in disease pathogenesis.

Published in:

2010

By:

La Spada, Albert R.;
Taylor, J. Paul

Publication type:

journal article

Disease therapy: A disruptive treatment.

Published in:

Nature Reviews Genetics, 2009, v. 10, n. 9, p. 591, doi. 10.1038/nrg2655

By:

Casci, Tanita

Publication type:

Article

Screening of coronary microvascular dysfunction in cardiomyopathy of myotonic muscular dystrophy type 1.

Published in:

European Heart Journal Case Reports, 2021, v. 5, n. 10, p. 1, doi. 10.1093/ehjcr/ytab364

By:

Djaileb, Loic;
Riou, Laurent;
Barone-Rochette, Gilles

Publication type:

Article

Brugada syndrome in a young patient with type 1 myotonic dystrophy requiring an implantable cardioverter defibrillator for primary prevention: a case report.

Published in:

2019

By:

Korantzopoulos, Panagiotis;
Bechlioulis, Aris;
Lakkas, Lampros;
Naka, Katerina K

Publication type:

Case Study

Ventricular tachycardia in patients with type 1 myotonic dystrophy: a case series.

Published in:

2019

By:

Nikhanj, Anish;
Sivakumaran, Soori;
Miskew-Nichols, Bailey;
Siddiqi, Zaeem A;
Oudit, Gavin Y

Publication type:

Case Study

Syndrom Noonanové s mnohočetnými pihami a kongenitální myotonická dystrofie 1. typu u novorozence.

Published in:

Pediatrie pro Praxi, 2020, v. 21, n. 1, p. 45, doi. 10.36290/ped.2020.012

By:

Pomahačová, Tereza;
Dort, Jiří;
Matas, Martin;
Kepková, Monika;
Mocková, Alice;
Huml, Michal;
Šubrt, Ivan

Publication type:

Article

Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" [1].

Published in:

2025

By:

Radziwonik-Frączyk, Wiktoria;
Sułek, Anna;
Elert-Dobkowska, Ewelina

Publication type:

Letter

The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion.

Published in:

2025

By:

Finsterer, Josef

Publication type:

Letter

Peripheral neuropathy in myotonic dystrophy type 1.

Published in:

Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 24, doi. 10.1111/j.1529-8027.2011.00313.x

By:

Hermans, Mieke C. E.;
Faber, Catharina G.;
Vanhoutte, Els K.;
Bakkers, Mayienne;
De Baets, Marc H.;
de Die-Smulders, Christine E. M.;
Merkies, Ingemar S. J.

Publication type:

Article

Dysregulation of calcium metabolism in type 1 myotonic dystrophy.

Published in:

Internal Medicine Journal, 2019, v. 49, n. 11, p. 1412, doi. 10.1111/imj.14307

By:

Hlaing, Phyu M.;
Scott, Ian A.;
Jackson, Richard V.

Publication type:

Article

CTG repeat number in the nonaffected allele of myotonic dystrophty patients is not critical...

Published in:

Human Biology, 1997, v. 69, n. 6, p. 887

By:

Cipollaro, M.;
Galderisi, U.

Publication type:

Article

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.80229

By:

Alfano, Massimiliano;
De Antoni, Luca;
Centofanti, Federica;
Visconti, Virginia Veronica;
Maestri, Simone;
Esposti, Chiara Degli;
Massa, Roberto;
D'Apice, Maria Rosaria;
Novelli, Giuseppe;
Delledonne, Massimo;
Botta, Annalisa;
Rossato, Marzia

Publication type:

Article

A 53-year-old woman with muscular atrophy showing hypersomnia and respiratory failure.

Published in:

2008

By:

Ono, Seiitsu

Publication type:

Other

Neurofibrillary tangles and deposition of oxidative products in the brain in cases of myotonic dystrophy.

Published in:

Neuropathology, 2006, v. 26, n. 2, p. 107, doi. 10.1111/j.1440-1789.2006.00662.x

By:

Oyamada, Reiko;
Hayashi, Masaharu;
Katoh, Yuji;
Tsuchiya, Kuniaki;
Mizutani, Toshio;
Tominaga, Itaru;
Kashima, Haruo

Publication type:

Article

Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice.

Published in:

Scientific Reports, 2013, p. 1, doi. 10.1038/srep02142

By:

Kosuke Oana;
Yoko Oma;
Satoshi Suo;
Masanori P. Takahashi;
Ichizo Nishino;
Shin'chi Takeda;
Shoichi Ishiura

Publication type:

Article

Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa.

Published in:

Life (2075-1729), 2021, v. 11, n. 3, p. 260, doi. 10.3390/life11030260

By:

Nakahara, Mei;
Oishi, Akio;
Miyata, Manabu;
Ikeda, Hanako Ohashi;
Hasegawa, Tomoko;
Numa, Shogo;
Otsuka, Yuki;
Oishi, Maho;
Matsuda, Fumihiko;
Tsujikawa, Akitaka;
Ouchi, Ayumi

Publication type:

Article

Myotonic dystrophy type 1: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 8, p. 765, doi. 10.3969/j.issn.1672-6731.2023.08.017

By:

WU Xu-ling;
ZHANG An-ni;
LEI Xiao-yang;
FENG Zhan-hui;
WANG Wei;
HE Dian

Publication type:

Article

Dystrophia myotonia type 1 with excessive daytime sleepiness: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 7, p. 659, doi. 10.3969/j.issn.1672-6731.2020.07.018

By:

ZHANG Rui-rui;
WANG Sheng-hui;
BAI Ying-ying;
ZHANG Jie-wen;
ZHANG Hong-ju

Publication type:

Article

Myotonic dystrophy and basal cell carcinoma—a true association?

Published in:

British Journal of Dermatology, 1999, v. 141, n. 5, p. 941, doi. 10.1046/j.1365-2133.1999.03184.x

By:

Azurdia, R.M.;
Verbov, J.L.

Publication type:

Article

A CRISPR-Cas13a Based Strategy That Tracks and Degrades Toxic RNA in Myotonic Dystrophy Type 1.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.594576

By:

Zhang, Nan;
Bewick, Brittani;
Xia, Guangbin;
Furling, Denis;
Ashizawa, Tetsuo

Publication type:

Article

Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.

Published in:

European Child & Adolescent Psychiatry, 2009, v. 18, n. 12, p. 705, doi. 10.1007/s00787-009-0037-4

By:

Douniol, Marie;
Jacquette, Aurélia;
Guilé, Jean-Marc;
Tanguy, Marie-Laure;
Angeard, Nathalie;
Héron, Delphine;
Plaza, Monique;
Cohen, David

Publication type:

Article

Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy.

Published in:

Case Reports in Obstetrics & Gynecology, 2019, p. 1, doi. 10.1155/2019/4290145

By:

Yamaguchi, Kyohei;
Tanaka, Hiroaki;
Furuhashi, Fumi H.;
Tanaka, Kayo;
Kondo, Eiji;
Ikeda, Tomoaki

Publication type:

Article

Myotonic Dystrophy and Anesthetic Challenges: A Case Report and Review.

Published in:

Case Reports in Anesthesiology, 2019, p. 1, doi. 10.1155/2019/4282305

By:

Mangla, Chanchal;
Bais, Kimmy;
Yarmush, Joel

Publication type:

Article

Anesthetic Considerations in a Patient with Myotonic Dystrophy for Hip Labral Repair.

Published in:

Case Reports in Anesthesiology, 2017, p. 1, doi. 10.1155/2017/6408956

By:

Go, Ramon;
Wang, David;
Ludwin, Danielle

Publication type:

Article

Sensitivity to Rocuronium-Induced Neuromuscular Block and Reversibility with Sugammadex in a Patient with Myotonic Dystrophy.

Published in:

Case Reports in Anesthesiology, 2012, p. 1, doi. 10.1155/2012/107952

By:

Kashiwai, Akihiro;
Suzuki, Takahiro;
Ogawa, Setsuro

Publication type:

Article

Forensic Considerations in Cases of Myotonic Dystrophy at Autopsy.

Published in:

Journal of Forensic Sciences, 2017, v. 62, n. 6, p. 1496, doi. 10.1111/1556-4029.13444

By:

Omond, Kimberley J.;
Byard, Roger W.

Publication type:

Article

Altered drug metabolism and increased susceptibility to fatty liver disease in a mouse model of myotonic dystrophy.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53378-z

By:

Dewald, Zachary;
Adesanya, Oluwafolajimi;
Bae, Haneui;
Gupta, Andrew;
Derham, Jessica M.;
Chembazhi, Ullas V.;
Kalsotra, Auinash

Publication type:

Article

Ultrasonography of abdominal muscles: Differential diagnosis of late-onset Pompe disease and myotonic dystrophy type 1.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.944464

By:

Pei-Chen Hsieh;
Chun-Wei Chang;
Long-Sun Ro;
Chin-Chang Huang;
Jia-En Chi;
Hung-Chou Kuo

Publication type:

Article

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.932883

By:

Peric, Stojan;
Zlatar, Jelena;
Nikolic, Luka;
Ivanovic, Vukan;
Pesovic, Jovan;
Djordjevic, Ivana Petrovic;
Sreckovic, Svetlana;
Savic-Pavicevic, Dusanka;
Meola, Giovanni;
Rakocevic-Stojanovic, Vidosava

Publication type:

Article

Gray Matter Abnormalities in Myotonic Dystrophy Type 1: A Voxel-Wise Meta-Analysis.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.891789

By:

Qirui Jiang;
Junyu Lin;
Chunyu Li;
Yanbing Hou;
Huifang Shang

Publication type:

Article

Blood-Based Markers of Neuronal Injury in Adult-Onset Myotonic Dystrophy Type 1.

Published in:

Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2021.791065

By:

van der Plas, Ellen;
Long, Jeffrey D.;
Koscik, Timothy R.;
Magnotta, Vincent;
Monckton, Darren G.;
Cumming, Sarah A.;
Gottschalk, Amy C.;
Hefti, Marco;
Gutmann, Laurie;
Nopoulos, Peggy C.

Publication type:

Article

Bundle Branch Reentrant Ventricular Tachycardia Treated with Catheter Ablation in a Patient with Myotonic Dystrophy.

Published in:

American Journal of Case Reports, 2021, v. 22, p. 1, doi. 10.12659/AJCR.929353

By:

Dongmin Kim

Publication type:

Article

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells.

Published in:

Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-024-03913-y

By:

Raaijmakers, Renée H.L.;
Ausems, C. Rosanne M.;
Willemse, Marieke;
Cumming, Sarah A.;
van Engelen, Baziel G.M.;
Monckton, Darren G.;
van Bokhoven, Hans;
Wansink, Derick G.

Publication type:

Article

Endometriosis as Initial Manifestation of Myotonic Dystrophy Type-2.

Published in:

Journal of Neurosciences in Rural Practice, 2021, v. 12, n. 1, p. 219, doi. 10.1055/s-0040-1721545

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Article

Myotonik Distrofi ve Normal Basınçlı Hidrosefali Birlikteliği: Nedensel mi Rastlantısal mı?

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2013, v. 19, n. 2, p. 56, doi. 10.4274/Tnd.29591

By:

Barcın, Ebru;
Gürbüz, Mehmet;
Kızılay, Ferah;
Karaali, Kamil;
Uysal, Hilmi

Publication type:

Article

ONGOING STUDY CONDUCTED ON THE IMPORTANCE OF THE KINESITHERAPY IN MYOTONIC DYSTROPHY.

Published in:

Studia Universitatis Babes-Bolyai, Educatio Artis Gymnasticae, 2009, v. 54, n. 3, p. 93

By:

Cristina-Elena, Chelmuş

Publication type:

Article

Clinical and Genetic Knowledge and Attitudes of Patients with Myotonic Dystrophy Type 1.

Published in:

Public Health Genomics, 2010, v. 13, n. 7/8, p. 424, doi. 10.1159/000316238

By:

Laberge, L.;
Prévost, C.;
Perron, M.;
Mathieu, J.;
Auclair, J.;
Gaudreault, M.;
Richer, L.;
Jean, S.;
Veillette, S.

Publication type:

Article

Multiple subcutaneous nodules.

Published in:

Journal of Paediatrics & Child Health, 2023, v. 59, n. 9, p. 1097, doi. 10.1111/jpc.16172

By:

Chan, Chon‐Wai J;
Sarkissian, Samuel Der;
Ming, Andrew

Publication type:

Article

Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study.

Published in:

European Journal of Neurology, 2011, v. 18, n. 9, p. 1139, doi. 10.1111/j.1468-1331.2011.03352.x

By:

Romigi, A.;
Izzi, F.;
Pisani, V.;
Placidi, F.;
Pisani, L. R.;
Marciani, M. G.;
Corte, F.;
Panico, M. B.;
Torelli, F.;
Uasone, E.;
Vitrani, G.;
Albanese, M.;
Massa, R.

Publication type:

Article