DM2 CNBP

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Massive contractions of myotonic dystrophy type 2-associated CCTG tetranucleotide repeats occur via double-strand break repair with distinct requirements for DNA helicases.

David,Papp, Luis A,Hernandez, Theresa A,Mai, Terrance J,Haanen, Meghan A,O'Donnell, Ariel T,Duran, Sophia M,Hernandez, Jenni E,Narvanto, Berenice,Arguello, Marvin O,Onwukwe, Sergei M,Mirkin, Jane C,Kim

Massive contractions of Myotonic Dystrophy Type 2-associated CCTG tetranucleotide repeats occur via double strand break repair with distinct requirements for helicases.

David,Papp, Luis A,Hernandez, Theresa A,Mai, Terrance J,Haanen, Meghan A,O'Donnell, Ariel T,Duran, Sophia M,Hernandez, Jenni E,Narvanto, Berenice,Arguello, Marvin O,Onwukwe, Kara,Kolar, Sergei M,Mirkin, Jane C,Kim

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.

Lyndal,Henden, Liam G,Fearnley, Natalie,Grima, Emily P,McCann, Carol,Dobson-Stone, Lauren,Fitzpatrick, Kathryn,Friend, Lynne,Hobson, Sandrine,Chan Moi Fat, Dominic B,Rowe, Susan,D'Silva, John B,Kwok, Glenda M,Halliday, Matthew C,Kiernan, Srestha,Mazumder, Hannah C,Timmins, Margaret,Zoing, Roger,Pamphlett, Lorel,Adams, Melanie,Bahlo, Ian P,Blair, Kelly L,Williams

Quercetin selectively reduces expanded repeat RNA levels in models of myotonic dystrophy.

Subodh K,Mishra, Sawyer M,Hicks, Jesus A,Frias, Sweta,Vangaveti, Masayuki,Nakamori, John D,Cleary, Kaalak,Reddy, J Andrew,Berglund