Works matching Myotonia atrophica

Results: 1100

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

Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 8, p. 712, doi. 10.1038/nsmb.2858

By:

Garcia, Susana M D A;
Tabach, Yuval;
Lourenço, Guinevere F;
Armakola, Maria;
Ruvkun, Gary

Publication type:

Article

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 840, doi. 10.1038/nsmb.2067

By:

Rau, Frédérique;
Freyermuth, Fernande;
Fugier, Charlotte;
Villemin, Jean-Philippe;
Fischer, Marie-Christine;
Jost, Bernard;
Dembele, Doulaye;
Gourdon, Geneviève;
Nicole, Annie;
Duboc, Denis;
Wahbi, Karim;
Day, John W.;
Fujimura, Harutoshi;
Takahashi, Masanori P.;
Auboeuf, Didier;
Dreumont, Natacha;
Furling, Denis;
Charlet-Berguerand, Nicolas

Publication type:

Article

Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 1, p. 85, doi. 10.1038/nsmb.1958

By:

François, Virginie;
Klein, Arnaud F;
Beley, Cyriaque;
Jollet, Arnaud;
Lemercier, Camille;
Garcia, Luis;
Furling, Denis

Publication type:

Article

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 9, p. 1079, doi. 10.1038/nsmb.1876

By:

Cleary, John D;
Tomé, Stéphanie;
López Castel, Arturo;
Panigrahi, Gagan B;
Foiry, Laurent;
Hagerman, Katharine A;
Sroka, Hana;
Chitayat, David;
Gourdon, Geneviève;
Pearson, Christopher E

Publication type:

Article

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 187, doi. 10.1038/nsmb.1720

By:

Hongqing Du;
Cline, Melissa S.;
Osborne, Robert J.;
Tuttle, Daniel L.;
Clark, Tyson A.;
Donohue, John Paul;
Hall, Megan P.;
Shiue, Lily;
Swanson, Maurice S.;
Thornton, Charles A.;
Ares, Jr, Manuel

Publication type:

Article

Two ways to misregulate mRNAs in myotonic dystrophy.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 141, doi. 10.1038/nsmb0210-141

By:

Voelker, Rodger B.;
Berglund, J. Andrew

Publication type:

Article

Abstracts of the Scientific Literature.

Published in:: 2007
Publication type:: Abstract

Bachmann bundle pacing reduces atrial electromechanical delay in type 1 myotonic dystrophy patients.

Published in:

2018

By:

Russo, Vincenzo;
Rago, Anna;
Papa, Andrea Antonio;
Arena, Giulia;
Politano, Luisa;
Nigro, Gerardo

Publication type:

journal article

Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.

Published in:

2022

By:

Iida, Yuka;
Hayashi, Takaaki;
Tokuhisa, Teruaki;
Mizobuchi, Kei;
Omoto, Shusaku;
Nakano, Tadashi

Publication type:

Case Study

Ocular findings in a Spanish cohort of myotonic dystrophy type 1.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 4, p. 1109, doi. 10.1007/s00417-022-05875-4

By:

García-Cruz, Ignacio;
Muñoz-Negrete, Francisco José;
Benito-Pascual, Blanca;
Arriola-Villalobos, Pedro;
Pérez-Bañón, María Dolores;
Alió, Jorge L.;
Mingo-Botín, David

Publication type:

Article

A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer.

Published in:

2012

By:

Endo, Toshiaki;
Baba, Tsuyoshi;
Sugio, Asuka;
Morishita, Miyuki;
Takahashi, Madoka;
Akashi, Yushi;
Ishioka, Shinichi;
Tachi, Nobutada;
Imai, Tomihiro;
Tamakawa, Mitsuharu;
Saito, Tsuyoshi

Publication type:

Letter

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

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

Published in:

Acta Neuropathologica, 2010, v. 119, n. 4, p. 481, doi. 10.1007/s00401-010-0660-7

By:

Tominaga, Kayo;
Hayashi, Yukiko K.;
Goto, Kanako;
Minami, Narihiro;
Noguchi, Satoru;
Nonaka, Ikuya;
Miki, Tetsuro;
Nishino, Ichizo

Publication type:

Article

The Impact of Myotonic Muscular Dystrophy Type 1 On the Central Nervous System.

Published in:

International Journal of High School Research, 2025, v. 7, n. 2, p. 121, doi. 10.36838/v7i2.16

By:

Meduri, Ananya

Publication type:

Article

No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2023, v. 4, n. 2, p. 185, doi. 10.1515/almed-2022-0079

By:

Goñi Ros, Nuria;
Sienes Bailo, Paula;
González Tarancón, Ricardo;
Martorell Sampol, Loreto;
Izquierdo Álvarez, Silvia

Publication type:

Article

Left Bundle Branch Optimized Implantable Cardioverter Defibrillator (LOTICD) Implantation in a Patient with Myotonic Dystrophy.

Published in:

European Journal of Therapeutics, 2024, v. 30, n. 3, p. 362, doi. 10.58600/eurjther2038

By:

Kara, Süleyman Cihan;
Dogan, Mert;
Canpolat, Uğur

Publication type:

Article

Three-dimensional assessment of pharyngeal airway in individuals with myotonic dystrophy type 1.

Published in:

Turkish Journal of Medical Sciences, 2021, v. 51, n. 6, p. 3022, doi. 10.3906/sag-2105-106

By:

EVLİCE, Burcu;
KOÇ, Filiz;
DUYAN, Hazal;
SOYDAN ÇABUK, Damla

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

The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing.

Published in:

Journal of Cell Biology, 2012, v. 196, n. 6, p. 699, doi. 10.1083/jcb.201108113

By:

Ravel-Chapuis, Aymeric;
Bélanger, Guy;
Yadava, Ramesh S.;
Mahadevan, Mani S.;
DesGroseillers, Luc;
Côté, Jocelyn;
Jasmin, Bernard J.

Publication type:

Article

Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.

Published in:

Journal of Cell Biology, 2007, v. 178, n. 6, p. 951, doi. 10.1083/jcb.200706048

By:

Smith, Kelly P.;
Byron, Meg;
Johnson, Carol;
Xing, Yigong;
Lawrence, Jeanne B.

Publication type:

Article

Coenzyme Q improves mitochondrial and muscle dysfunction caused by CUG expanded repeats in Caenorhabditis elegans.

Published in:

Genetics, 2025, v. 229, n. 2, p. 1, doi. 10.1093/genetics/iyae208

By:

Teixeira, Joana;
Harju, Anu-Mari;
Othman, Alaa;
Eriksson, Ove;
Battersby, Brendan J;
Garcia, Susana M D A

Publication type:

Article

Loss of muscleblind splicing factor shortens Caenorhabditis elegans lifespan by reducing the activity of p38 MAPK/PMK-1 and transcription factors ATF-7 and Nrf/SKN-1.

Published in:

Genetics, 2021, v. 219, n. 2, p. 1, doi. 10.1093/genetics/iyab114

By:

Matilainen, Olli;
Ribeiro, Ana R. S.;
Verbeeren, Jens;
Cetinbas, Murat;
Sood, Heini;
Sadreyev, Ruslan I.;
Garcia, Susana M. D. A.

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

Diffuse xanthogranulomatous pyelonephritis in a patient with myotonic dystrophy and cerebral palsy.

Published in:

International Journal of Urology, 2005, v. 12, n. 5, p. 497, doi. 10.1111/j.1442-2042.2005.01080.x

By:

Takayasu, Hajime;
Ishimaru, Yuki;
Kisaki, Yoshiyuki;
Nakai, Hideo;
Ueda, Yoshihiko;
Ikeda, Hitoshi

Publication type:

Article

A premature babywith bilateral pleural effusions, Turner syndrome (monosomy X) and myotonic dystrophy.

Published in:

2017

By:

Li Jun Thean;
Tieh Hee Hai Guan Koh

Publication type:

Case Study

A New View of the T-Loop Junction: Implications for Self-Primed Telomere Extension, Expansion of Disease-Related Nucleotide Repeat Blocks, and Telomere Evolution.

Published in:

Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00792

By:

Tomaska, Lubomir;
Nosek, Jozef;
Kar, Anirban;
Willcox, Smaranda;
Griffith, Jack D.

Publication type:

Article

Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00589

By:

Lian, Mulias;
Lee, Caroline G.;
Chong, Samuel S.

Publication type:

Article

MYOTONIC DYSTROPHY - A REVIEW.

Published in:

International Journal of Pharmaceutical, Chemical & Biological Sciences, 2015, v. 5, n. 3, p. 719

By:

George, Laigy Ann

Publication type:

Article

Masticatory muscle activity in myotonic dystrophy patients.

Published in:

Journal of Oral Rehabilitation, 1996, v. 23, n. 1, p. 5, doi. 10.1111/j.1365-2842.1996.tb00804.x

By:

Ödman, C.;
Kiliaridis, S.

Publication type:

Article

Ultrasound imaging of the masseter muscle in myotonic dystrophy patients.

Published in:

Journal of Oral Rehabilitation, 1995, v. 22, n. 8, p. 619, doi. 10.1111/j.1365-2842.1995.tb01059.x

By:

Kiliaridis, S.;
Engvall, M.;
Tzakis, M. G.

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

Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy.

Published in:

Korean Journal of Anesthesiology, 2012, v. 63, n. 2, p. 169, doi. 10.4097/kjae.2012.63.2.169

By:

Joh, Jung Hwa;
Kim, Ji Yeon;
Baek, Seung-Hye;
Song, Jun-Gol;
Lee, Yu Mi;
Kim, Joung Uk

Publication type:

Article

Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy.

Published in:

Thyroid, 2019, v. 29, n. 4, p. 607, doi. 10.1089/thy.2018.0307

By:

Takeda, Kyoko;
Nemoto, Ken-ichi;
Hayashi, Yoshitaka;
Yamamoto, Michiyo;
Sakuta, Ryoichi;
Kimura, Tetsuya;
Noto, Hiroshi

Publication type:

Article

Diabetes, metformin and cancer risk in myotonic dystrophy type I.

Published in:

International Journal of Cancer, 2020, v. 147, n. 3, p. 785, doi. 10.1002/ijc.32801

By:

Alsaggaf, Rotana;
Pfeiffer, Ruth M.;
Wang, Youjin;
St. George, Diane Marie M.;
Zhan, Min;
Wagner, Kathryn R.;
Amr, Sania;
Greene, Mark H.;
Gadalla, Shahinaz M.

Publication type:

Article

Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37619-1

By:

Hu, Ningyan;
Kim, Eunjoo;
Antoury, Layal;
Wheeler, Thurman M.

Publication type:

Article

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31594-9

By:

Dincã, Diana M.;
Lallemant, Louison;
González-Barriga, Anchel;
Cresto, Noémie;
Braz, Sandra O.;
Sicot, Géraldine;
Pillet, Laure-Elise;
Polvèche, Hélène;
Magneron, Paul;
Huguet-Lachon, Aline;
Benyamine, Hélène;
Azotla-Vilchis, Cuauhtli N.;
Agonizantes-Juárez, Luis E.;
Tahraoui-Bories, Julie;
Martinat, Cécile;
Hernández-Hernández, Oscar;
Auboeuf, Didier;
Rouach, Nathalie;
Bourgeois, Cyril F.;
Gourdon, Geneviève

Publication type:

Article

Managing thyroid cancer in Steinert's disease: the role of radiofrequency ablation.

Published in:

2023

By:

Solis-Pazmino, Paola;
Carvajal, Mishel A;
García, Mikaela;
Godoy, Richard;
Pazmino-Chavez, Camila;
Garcia, Cristhian

Publication type:

Case Study

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.

Published in:

Genes, 2025, v. 16, n. 2, p. 216, doi. 10.3390/genes16020216

By:

Doss, Rose M.;
Lopez-Ignacio, Susana;
Dischler, Anna;
Hiatt, Laurel;
Dashnow, Harriet;
Breuss, Martin W.;
Dias, Caroline M.

Publication type:

Article

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1.

Published in:

Genes, 2022, v. 13, n. 8, p. 1465, doi. 10.3390/genes13081465

By:

Han, Ji Yoon;
Jang, Woori;
Park, Joonhong

Publication type:

Article

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.

Published in:

Genes, 2022, v. 13, n. 6, p. 970, doi. 10.3390/genes13060970

By:

Rasmussen, Astrid;
Hildonen, Mathis;
Vissing, John;
Duno, Morten;
Tümer, Zeynep;
Birkedal, Ulf

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

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.

Published in:

Genes, 2020, v. 11, n. 11, p. 1321, doi. 10.3390/genes11111321

By:

Ballester-Lopez, Alfonsina;
Koehorst, Emma;
Linares-Pardo, Ian;
Núñez-Manchón, Judit;
Almendrote, Miriam;
Lucente, Giuseppe;
Arbex, Andrea;
Alonso, Carles Puente;
Lucia, Alejandro;
Monckton, Darren G.;
Cumming, Sarah A.;
Pintos-Morell, Guillem;
Coll-Cantí, Jaume;
Ramos-Fransi, Alba;
Martínez-Piñeiro, Alicia;
Nogales-Gadea, Gisela

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

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1.

Published in:

Genes, 2020, v. 11, n. 8, p. 936, doi. 10.3390/genes11080936

By:

Hildonen, Mathis;
Knak, Kirsten Lykke;
Dunø, Morten;
Vissing, John;
Tümer, Zeynep

Publication type:

Article

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

Published in:

Genes, 2020, v. 11, n. 7, p. 757, doi. 10.3390/genes11070757

By:

Ballester-Lopez, Alfonsina;
Linares-Pardo, Ian;
Koehorst, Emma;
Núñez-Manchón, Judit;
Pintos-Morell, Guillem;
Coll-Cantí, Jaume;
Almendrote, Miriam;
Lucente, Giuseppe;
Arbex, Andrea;
Magaña, Jonathan J.;
Murillo-Melo, Nadia M.;
Lucia, Alejandro;
Monckton, Darren G.;
Cumming, Sarah A.;
Ramos-Fransi, Alba;
Martínez-Piñeiro, Alicia;
Nogales-Gadea, Gisela

Publication type:

Article

Altered Ca<sup>2+</sup> Homeostasis and Endoplasmic Reticulum Stress in Myotonic Dystrophy Type 1 Muscle Cells.

Published in:

Genes, 2013, v. 4, n. 2, p. 275, doi. 10.3390/genes4020275

By:

Botta, Annalisa;
Malena, Adriana;
Loro, Emanuele;
Moro, Giulia Del;
Suman, Matteo;
Pantic, Boris;
Szabadkai, Gyorgy;
Vergani, Lodovica

Publication type:

Article

A 5-year follow-up study of an atypical case of myotonic dystrophy.

Published in:

Brain Injury, 2005, v. 19, n. 14, p. 1213, doi. 10.1080/02699050500283509

By:

Macniven, J. A. B.;
Graham, N. L.;
Davies, R. R.;
Wilson, B. A.

Publication type:

Article

Multiple Pilomatricomas, Sternal Cleft and Mild Coagulative Defect.

Published in:

Acta Dermato-Venereologica, 2000, v. 80, n. 1, p. 77, doi. 10.1080/000155500750012739

By:

Strumìa, R.;
Sansone, D.;
Voghenzi, A.

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