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Select item 67457391.

Consensus-based care recommendations for adults with myotonic dystrophy type 2

Benedikt Schoser, Federica Montagnese, Guillaume Bassez, Barbara Fossati, Josep Gamez, Chad Heatwole, James Hilbert, Cornelia Kornblum, Anne Kostera-Pruszczyk, Ralf Krahe, Anna Lusakowska, Giovanni Meola, Richard Moxley, III, Charles Thornton, Bjarne Udd, Paul Formaker, on behalf of the Myotonic Dystrophy Foundation

Neurol Clin Pract. 2019 Aug; 9(4): 343–353. doi: 10.1212/CPJ.0000000000000645

PMCID:: PMC6745739

Abstract Article PDF–1.8M

Select item 65475182.

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, the Filnemus Myotonic Dystrophy Study Group, Dalil Hamroun, Guillaume Bassez

Orphanet J Rare Dis. 2019; 14: 122. Published online 2019 Jun 3. doi: 10.1186/s13023-019-1088-3

PMCID:: PMC6547518

Abstract Article PDF–2.6M

Select item 64050943.

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study

Carla Gliem, Martina Minnerop, Sandra Roeske, Hanna Gärtner, Jan-Christoph Schoene-Bake, Sandra Adler, Juri-Alexander Witt, Felix Hoffstaedter, Christiane Schneider-Gold, Regina C. Betz, Christoph Helmstaedter, Marc Tittgemeyer, Katrin Amunts, Thomas Klockgether, Bernd Weber, Cornelia Kornblum

PLoS One. 2019; 14(3): e0213381. Published online 2019 Mar 7. doi: 10.1371/journal.pone.0213381

PMCID:: PMC6405094

Abstract Article PDF–1.9M

Select item 61260434.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller

Orphanet J Rare Dis. 2018; 13: 155. Published online 2018 Sep 5. doi: 10.1186/s13023-018-0889-0

Correction in:: Orphanet J Rare Dis. 2019; 14: 199.

PMCID:: PMC6126043

Abstract Article PDF–1.4M

Select item 60207725.

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

Alexis S. Mahyera, Tamara Schneider, Birgit Halliger-Keller, Katja Schrooten, Eva-Maria Hörner, Simone Rost, Wolfram Kress

Front Neurol. 2018; 9: 463. Published online 2018 Jun 19. doi: 10.3389/fneur.2018.00463

PMCID:: PMC6020772

Abstract Article PDF–1.1M

Select item 59511736.

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

Tao Zu, John D. Cleary, Yuanjing Liu, Monica Bañez-Coronel, Jodi L. Bubenik, Fatma Ayhan, Tetsuo Ashizawa, Guangbin Xia, H. Brent Clark, Anthony T. Yachnis, Maurice S. Swanson, Laura P.W. Ranum

Neuron. Author manuscript; available in PMC 2018 Sep 13.

Published in final edited form as: Neuron. 2017 Sep 13; 95(6): 1292–1305.e5. doi: 10.1016/j.neuron.2017.08.039

PMCID:: PMC5951173

Abstract Article PDF–2.7M

Select item 56497637.

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2

James E. Hilbert, Richard J. Barohn, Paula R. Clemens, Elizabeth A. Luebbe, William B. Martens, Michael P. McDermott, Amy L. Parkhill, Rabi Tawil, Charles A. Thornton, Richard T. Moxley, III

Neurology. 2017 Sep 26; 89(13): 1348–1354. doi: 10.1212/WNL.0000000000004420

PMCID:: PMC5649763

Abstract Article PDF–292K

Select item 54474818.

Myotonic dystrophy: Approach to therapy

Charles A. Thornton, Eric Wang, Ellie Carrell

Curr Opin Genet Dev. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Curr Opin Genet Dev. 2017 Jun; 44: 135–140. Published online 2017 Apr 1. doi: 10.1016/j.gde.2017.03.007

PMCID:: PMC5447481

Abstract Article PDF–472K

Select item 49093249.

A Molecular Signature of Myalgia in Myotonic Dystrophy 2

Rabih Moshourab, Vinko Palada, Stefanie Grunwald, Ulrike Grieben, Gary R. Lewin, Simone Spuler

EBioMedicine. 2016 May; 7: 205–211. Published online 2016 Mar 14. doi: 10.1016/j.ebiom.2016.03.017

PMCID:: PMC4909324

Abstract Article PDF–703K

Select item 469168910.

Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2)

Chad Heatwole, Nicholas Johnson, Rita Bode, Jeanne Dekdebrun, Nuran Dilek, James E. Hilbert, Elizabeth Luebbe, William Martens, Michael P. McDermott, Christine Quinn, Nan Rothrock, Charles Thornton, Barbara G. Vickrey, David Victorson, Richard T. Moxley, III

Neurology. 2015 Dec 15; 85(24): 2136–2146. doi: 10.1212/WNL.0000000000002225

PMCID:: PMC4691689

Abstract Article PDF–725K

Select item 425901211.

Sleep disturbances in myotonic dystrophy type 2

Paul Shepard, Erek M. Lam, Erik K. St. Louis, Jacob Dominik

Eur Neurol. Author manuscript; available in PMC 2014 Dec 8.

Published in final edited form as: Eur Neurol. 2012; 68(6): 377–380. Published online 2012 Oct 25. doi: 10.1159/000342895

PMCID:: PMC4259012

Abstract Article PDF–81K

Select item 349973912.

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Erik-Jan Kamsteeg, Wolfram Kress, Claudio Catalli, Jens M Hertz, Martina Witsch-Baumgartner, Michael F Buckley, Baziel G M van Engelen, Marianne Schwartz, Hans Scheffer

Eur J Hum Genet. 2012 Dec; 20(12): 1203–1208. Published online 2012 May 30. doi: 10.1038/ejhg.2012.108

PMCID:: PMC3499739

Abstract Article PDF–486K

Select item 349833213.

Increased Cancer Risks in Myotonic Dystrophy

Aung Ko Win, Promilla G. Perattur, Jose S. Pulido, Christine M. Pulido, Noralane M. Lindor

Mayo Clin Proc. 2012 Feb; 87(2): 130–135. doi: 10.1016/j.mayocp.2011.09.005

PMCID:: PMC3498332

Abstract Article PDF–244K

Select item 346972314.

Correlates of Tumor Development in Patients with Myotonic Dystrophy

Maya Das, Richard T. Moxley, III, James E. Hilbert, William B. Martens, Lisa Letren, Mark H. Greene, Shahinaz M. Gadalla

J Neurol. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: J Neurol. 2012 Oct; 259(10): 2161–2166. Published online 2012 May 23. doi: 10.1007/s00415-012-6476-8

PMCID:: PMC3469723

Abstract Article PDF–734K

Select item 335060415.

Cerebral and Muscle MRI Abnormalities in Myotonic Dystrophy

Daniel T. Franc, Ryan L. Muetzel, Paul R. Robinson, Craig P. Rodriguez, Joline C. Dalton, Cameron E. Naughton, Bryon A. Mueller, Jeffrey R. Wozniak, Kelvin O. Lim, John W. Day

Neuromuscul Disord. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Neuromuscul Disord. 2012 Jun; 22(6): 483–491. Published online 2012 Jan 30. doi: 10.1016/j.nmd.2012.01.003

PMCID:: PMC3350604

Abstract Article PDF–1.0M

Select item 328618316.

Cancer Risk among Patients with Myotonic Muscular Dystrophy

Shahinaz M Gadalla, Marie Lund, Ruth M Pfeiffer, Sanne Gørtz, Christine M Mueller, Richard T Moxley, III, Sigurdur Y Kristinsson, Magnus Björkholm, Fatma M Shebl, James E Hilbert, Ola Landgren, Jan Wohlfahrt, Mads Melbye, Mark H Greene

JAMA. Author manuscript; available in PMC 2012 Dec 14.

Published in final edited form as: JAMA. 2011 Dec 14; 306(22): 2480–2486. doi: 10.1001/jama.2011.1796