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Items: 1 to 20 of 36

1.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
AbstractArticlePDF–776K
2.
Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy
Djillali Annane, Dan H Moore, Robert G Miller, Cochrane Neuromuscular Group
Cochrane Database Syst Rev. 2006 Jul; 2006(3): CD003218. Published online 2006 Jul 19. doi: 10.1002/14651858.CD003218.pub2
PMCID:
PMC9006877
AbstractArticlePDF–286K
3.
Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program
Nicholas E. Johnson, Russell J. Butterfield, Katie Mayne, Tara Newcomb, Carina Imburgia, Diane Dunn, Brett Duval, Marcia L. Feldkamp, Robert B. Weiss
Neurology. 2021 Feb 16; 96(7): e1045–e1053. doi: 10.1212/WNL.0000000000011425
PMCID:
PMC8055332
AbstractArticlePDF–874K
4.
Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial
Chad Heatwole, Elizabeth Luebbe, Spencer Rosero, Katy Eichinger, William Martens, James Hilbert, Jeanne Dekdebrun, Nuran Dilek, Christine Zizzi, Nicholas Johnson, Araya Puwanant, Rabi Tawil, Giovanni Schifitto, Christopher A. Beck, J. Franklin Richeson, Wojciech Zareba, Charles Thornton, Michael P. McDermott, Richard Moxley, III
Neurology. 2021 Jan 12; 96(2): e228–e240. doi: 10.1212/WNL.0000000000011002
Correction in:
Neurology. 2024 Jan 23; 102(2): e207915.
PMCID:
PMC7905778
AbstractArticlePDF–395K
5.
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
Jacob N. Miller, Ellen van der Plas, Mark Hamilton, Timothy R. Koscik, Laurie Gutmann, Sarah A. Cumming, Darren G. Monckton, Peggy C. Nopoulos
Neurol Genet. 2020 Oct; 6(5): e504. Published online 2020 Aug 12. doi: 10.1212/NXG.0000000000000504
PMCID:
PMC7428360
AbstractArticlePDF–277K
6.
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1
Nicholas E. Johnson, Eugenio Zapata Aldana, Nathalie Angeard, Tetsuo Ashizawa, Kiera N. Berggren, Chiara Marini-Bettolo, Tina Duong, Anne-Berit Ekström, Valeria Sansone, Cuixia Tian, Leah Hellerstein, Craig Campbell
Neurol Clin Pract. 2019 Oct; 9(5): 443–454. doi: 10.1212/CPJ.0000000000000646
PMCID:
PMC6814415
AbstractArticlePDF–2.6M
7.
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort
Sarah A. Cumming, Cecilia Jimenez-Moreno, Kees Okkersen, Stephan Wenninger, Ferroudja Daidj, Fiona Hogarth, Roberta Littleford, Gráinne Gorman, Guillaume Bassez, Benedikt Schoser, Hanns Lochmüller, Baziel G.M. van Engelen, Darren G. Monckton, on behalf of the OPTIMISTIC Consortium
Neurology. 2019 Sep 3; 93(10): e995–e1009. doi: 10.1212/WNL.0000000000008056
Correction in:
Neurology. 2020 Mar 10; 94(10): 459.
PMCID:
PMC6745735
AbstractArticlePDF–1022K
8.
Consensus-based care recommendations for adults with myotonic dystrophy type 1
Tetsuo Ashizawa, Cynthia Gagnon, William J. Groh, Laurie Gutmann, Nicholas E. Johnson, Giovanni Meola, Richard Moxley, III, Shree Pandya, Mark T. Rogers, Ericka Simpson, Nathalie Angeard, Guillaume Bassez, Kiera N. Berggren, Deepak Bhakta, Marco Bozzali, Ann Broderick, Janice L.B. Byrne, Craig Campbell, Edith Cup, John W. Day, Elisa De Mattia, Denis Duboc, Tina Duong, Katy Eichinger, Anne-Berit Ekstrom, Baziel van Engelen, Belen Esparis, Bruno Eymard, Marla Ferschl, Shahinaz M. Gadalla, Benjamin Gallais, Todd Goodglick, Chad Heatwole, James Hilbert, Venessa Holland, Marie Kierkegaard, Wilma J. Koopman, Kari Lane, Daphne Maas, Ami Mankodi, Katherine D. Mathews, Darren G. Monckton, David Moser, Saman Nazarian, Linda Nguyen, Peg Nopoulos, Richard Petty, Janel Phetteplace, Jack Puymirat, Subha Raman, Louis Richer, Elisabetta Roma, Jacinda Sampson, Valeria Sansone, Benedikt Schoser, Laurie Sterling, Jeffrey Statland, S.H. Subramony, Cuixia Tian, Careniña Trujillo, Gordon Tomaselli, Chris Turner, Shannon Venance, Aparajitha Verma, Molly White, Stefan Winblad
Neurol Clin Pract. 2018 Dec; 8(6): 507–520. doi: 10.1212/CPJ.0000000000000531
PMCID:
PMC6294540
AbstractArticlePDF–2.1M
9.
Cancer Phenotype in Myotonic Dystrophy Patients: Results from a Meta-analysis
Jose I. Emparanza, Adolfo López de Munain, Mark H. Greene, Ander Matheu, Roberto Fernández-Torrón, Shahinaz M. Gadalla
Muscle Nerve. Author manuscript; available in PMC 2019 Oct 1.
Published in final edited form as: Muscle Nerve. 2018 Oct; 58(4): 517–522. doi: 10.1002/mus.26194
PMCID:
PMC6173974
AbstractArticlePDF–721K
10.
Core Clinical Phenotypes in Myotonic Dystrophies
Stephan Wenninger, Federica Montagnese, Benedikt Schoser
Front Neurol. 2018; 9: 303. Published online 2018 May 2. doi: 10.3389/fneur.2018.00303
PMCID:
PMC5941986
AbstractArticlePDF–648K
11.
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1
Karim Wahbi, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Henri Marc Bécane, Arnaud Lazarus, Maximilien Sochala, Tanya Stojkovic, Anthony Béhin, Sarah Leonard-Louis, Pauline Arnaud, Denis Furling, Vincent Probst, Dominique Babuty, Sybille Pellieux, Nicolas Clementy, Guillaume Bassez, Yann Péréon, Bruno Eymard, Denis Duboc
JAMA Neurol. 2018 May; 75(5): 573–581. Published online 2018 Feb 5. doi: 10.1001/jamaneurol.2017.4778
PMCID:
PMC5885178
AbstractArticle
12.
A Population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy
Diana Abbott, Nicholas E Johnson, Lisa A. Cannon-Albright
Muscle Nerve. Author manuscript; available in PMC 2018 Feb 23.
Published in final edited form as: Muscle Nerve. 2016 Oct; 54(4): 783–785. Published online 2016 Jul 7. doi: 10.1002/mus.25145
PMCID:
PMC5824717
AbstractArticlePDF–51K
13.
Risk of skin cancer among patients with myotonic dystrophy type 1 based on Primary care physician data from the United Kingdom Clinical Practice Research Datalink
Youjin Wang, Ruth M. Pfeiffer, Rotana Alsaggaf, Wilhelmine Meeraus, Julia C. Gage, Lesley A. Anderson, Renée C. Bremer, Nikoletta Nikolenko, Hanns Lochmuller, Mark H. Greene, Shahinaz M. Gadalla
Int J Cancer. Author manuscript; available in PMC 2019 Mar 15.
Published in final edited form as: Int J Cancer. 2018 Mar 15; 142(6): 1174–1181. Published online 2017 Nov 20. doi: 10.1002/ijc.31143
PMCID:
PMC5773358
AbstractArticlePDF–396K
14.
Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures—A Case Series
Leonid Gorelik, Antolin Flores
Front Med (Lausanne) 2017; 4: 243. Published online 2018 Jan 8. doi: 10.3389/fmed.2017.00243
PMCID:
PMC5766654
AbstractArticlePDF–106K
15.
Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients
Raquel María Fernández, María Dolores Lozano-Arana, Beatriz Sánchez, Ana Peciña, Juan Carlos García-Lozano, Salud Borrego, Guillermo Antiñolo
Biomed Res Int. 2017; 2017: 9165363. Published online 2017 Nov 14. doi: 10.1155/2017/9165363
PMCID:
PMC5733891
AbstractArticlePDF–673K
16.
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
AbstractArticlePDF–292K
17.
Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study
Nicholas E. Johnson, Russell Butterfield, Kiera Berggren, Man Hung, Wei Chen, Deanna DiBella, Melissa Dixon, Heather Hayes, Evan Pucillo, Jerry Bounsanga, Chad Heatwole, Craig Campbell
Neurology. 2016 Jul 12; 87(2): 160–167. doi: 10.1212/WNL.0000000000002845
PMCID:
PMC4940062
AbstractArticlePDF–616K
18.
Relative Risks for Comorbidities Associated with Myotonic Dystrophy: A Population-Based Analysis
Nicholas E Johnson, Diana Abbott, Lisa A. Cannon-Albright
Muscle Nerve. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Muscle Nerve. 2015 Oct; 52(4): 659–661. Published online 2015 Aug 26. doi: 10.1002/mus.24766
PMCID:
PMC4580516
AbstractArticlePDF–65K
19.
Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child
Andrea M Glaser, Jennifer H Johnston, Wallace A Gleason, J Marc Rhoads
Clin Case Rep. 2015 Jun; 3(6): 424–426. Published online 2015 Apr 9. doi: 10.1002/ccr3.256
PMCID:
PMC4498855
AbstractArticlePDF–480K
20.
Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)
Stéphane Jean, Louis Richer, Luc Laberge, Jean Mathieu
Orphanet J Rare Dis. 2014; 9: 186. Published online 2014 Nov 26. doi: 10.1186/s13023-014-0186-5
PMCID:
PMC4247010
AbstractArticlePDF–403K

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