DM2 CNBP

Ontology Lookup Service (OLS)

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

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

Neuroepidemiology · 2022-04-28

Myotonic Dystrophy Type 2

Felix,Kleefeld, Hannes,Erdmann, Benedikt,Schoser

GeneReviews® · 1993-01-01

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.

Federica,Montagnese, Stefania,Mondello, Stephan,Wenninger, Wolfram,Kress, Benedikt,Schoser

Journal of neurology · 2017-10-30

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.

Marie,De Antonio, Céline,Dogan, Ferroudja,Daidj, Bruno,Eymard, Jack,Puymirat, Jean,Mathieu, Cynthia,Gagnon, Sandrine,Katsahian, Dalil,Hamroun, Guillaume,Bassez

Orphanet journal of rare diseases · 2019-06-03

Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.

Martina,Rimoldi, Sabrina,Lucchiari, Serena,Pagliarani, Giovanni,Meola, Giacomo Pietro,Comi, Elena,Abati

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024-12-07

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson

Science advances · 2022-03-04

Updated Structure of

Martin,Wendlandt, Hannes,Erdmann, Simone,Rost, Morghan C,Lucas, Kerstin,Becker, Stephanie,Kleinle, Manuela,Timmer, Andrea,Bier, Gilbert,Wunderlich, Stephan,Wenninger, Maggie C,Walter, Teresa,Neuhann, Benedikt,Schoser, Elke,Holinski-Feder, Angela,Abicht

Neurology. Genetics · 2024-12-18

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

Zhen Zhi,Tang, Viktor,Yarotskyy, Lan,Wei, Krzysztof,Sobczak, Masayuki,Nakamori, Katy,Eichinger, Richard T,Moxley, Robert T,Dirksen, Charles A,Thornton

Human molecular genetics · 2011-12-02

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

Distinct cellular effects of myotonic dystrophy type 2 repeat-associated non-AUG tetrapeptides.

Marta,Marzullo, Assia,De Simone, Marta,Terribili, Michela,Di Salvio, Degisew Yinur,Mengistu, Maria Patrizia,Somma, Rodrigo,D'Amico, Gianluca,Canettieri, Gianluca,Cestra, Laura,Ciapponi

Disease models & mechanisms · 2026-05-18

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.

C L,Liquori, K,Ricker, M L,Moseley, J F,Jacobsen, W,Kress, S L,Naylor, J W,Day, L P,Ranum

Science (New York, N.Y.) · 2001-08-03

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.

Sophia B,Gibson, Nikhita,Damaraju, J Gus,Gustafson, Elsa V,Balton, Sirisak,Chanprasert, Ian A,Glass, Martha,Horike-Pyne, Runjun D,Kumar, Kathleen A,Leppig, Chris,Lundberg, Jane,Ranchalis, Elisabeth A,Rosenthal, Andrew K,Solomon, Andrew B,Stergachis, Mark,Wener, Gail P,Jarvik, Elizabeth E,Blue, Katrina M,Dipple, Harriet,Dashnow, Lea M,Starita, Danny E,Miller

medRxiv : the preprint server for health sciences · 2026-05-01

The novel (TCTG)

Federica,Centofanti, Virginia Veronica,Visconti, Maria Rosaria,D'Apice, Marco,Carlomagno, Simone,Maestri, Dario,Ciabini, Mario,Bengala, Enrica,Marchionni, Erica,Frezza, Roberto,Massa, Antonio,Petrucci, Francesca,Lupidi, Elena,Pegoraro, Gabriele,Siciliano, Matteo,Garibaldi, Paola,Origone, Massimo,Delledonne, Marzia,Rossato, Annalisa,Botta, Giuseppe,Novelli

Human genomics · 2026-04-05

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy.

Stephanie J,Valberg, Zoë J,Williams, Elizabeth G,Ames, James R,Mickelson, Yvette S,Nout-Lomas, Gabriele,Landolt, Macarena,Sanz, Keri,Gardner

PloS one · 2026-01-29

Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.

Zhen,Hu, Qin-Qin,Yan, Jing-Jin,Wan, Yu,Fan, Jun,Liu

Movement disorders : official journal of the Movement Disorder Society · 2025-10-11

Optical genome mapping enables accurate testing of large repeat expansions.

Bart,van der Sanden, Kornelia,Neveling, Syukri,Shukor, Michael D,Gallagher, Joyce,Lee, Stephanie L,Burke, Maartje,Pennings, Ronald,van Beek, Michiel,Oorsprong, Ellen,Kater-Baats, Eveline,Kamping, Alide A,Tieleman, Nicol C,Voermans, Ingrid E,Scheffer, Jozef,Gecz, Mark A,Corbett, Lisenka E L M,Vissers, Andy Wing Chun,Pang, Alex,Hastie, Erik-Jan,Kamsteeg, Alexander,Hoischen

Genome research · 2025-04-14

High-resolution repeat structure analysis in myotonic dystrophy type 2 diagnostics using short-read whole genome sequencing.

Ingrid,Lojova, Marcel,Kucharik, Andrea,Zatkova, Andrej,Balaz, Zuzana,Pös, Eva Tothova,Tarova, Ludevit,Kadasi, Jaroslav,Budis, Tomas,Szemes, Jan,Radvanszky

Analytical biochemistry · 2025-02-01

Life expectancy and causes of death in patients with Myotonic Dystrophy Type 2.

Manon J,Damen, Otto G,Muilwijk, Tom Bg,Olde Dubbelink, Baziel Gm,van Engelen, Nicol C,Voermans, Alide A,Tieleman

Journal of neuromuscular diseases · 2024-11-01

Co-occurrence of

Wiktoria,Radziwonik-Frączyk, Ewelina,Elert-Dobkowska, Jolanta,Kubalska, Iwona,Stępniak, Marta,Lipowska, Anna,Potulska-Chromik, Anna,Sułek

Postepy psychiatrii neurologii · 2024-07-24

Effects of interrupting residues on DNA dumbbell structures formed by CCTG tetranucleotide repeats associated with myotonic dystrophy type 2.

Yingquan,Yang, Yang,Wang, Zhenzhen,Yan, Zhigang,Li, Pei,Guo

FEBS letters · 2024-06-25