Literature DB >> 19846307

Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.

Rachel Thompson1, Benedikt Schoser, Darren G Monckton, Karla Blonsky, Hanns Lochmüller.   

Abstract

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Year:  2009        PMID： 19846307     DOI： 10.1016/j.nmd.2009.08.009

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  11 in total

1.  Diagnostic odyssey of patients with myotonic dystrophy.

Authors:  James E Hilbert; Tetsuo Ashizawa; John W Day; Elizabeth A Luebbe; William B Martens; Michael P McDermott; Rabi Tawil; Charles A Thornton; Richard T Moxley
Journal:  J Neurol       Date:  2013-06-27       Impact factor: 4.849

2.  Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases.

Authors:  Jean-Pierre Bouchard; Louise Cossette; Guillaume Bassez; Jack Puymirat
Journal:  J Neurol       Date:  2014-11-08       Impact factor: 4.849

3.  If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Authors:  James E Hilbert; John T Kissel; Elizabeth A Luebbe; William B Martens; Michael P McDermott; Donald B Sanders; Rabi Tawil; Charles A Thornton; Richard T Moxley
Journal:  Contemp Clin Trials       Date:  2011-11-26       Impact factor: 2.226

4.  Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Authors:  Davide Pareyson; Pietro Fratta; Pierre-François Pradat; Gianni Sorarù; Josef Finsterer; John Vissing; Manu E Jokela; Bjarne Udd; Albert C Ludolph; Anna Sagnelli; Patrick Weydt
Journal:  J Mol Neurosci       Date:  2016-01-07       Impact factor: 3.444

5.  Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure.

Authors:  Chad Heatwole; Rita Bode; Nicholas Johnson; Jeanne Dekdebrun; Nuran Dilek; Mark Heatwole; James E Hilbert; Elizabeth Luebbe; William Martens; Michael P Mcdermott; Nan Rothrock; Charles Thornton; Barbara G Vickrey; David Victorson; Richard Moxley
Journal:  Muscle Nerve       Date:  2014-06       Impact factor: 3.217

Review 6.  The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review.

Authors:  Christina Q Nguyen; Kristine Alba-Concepcion; Elizabeth E Palmer; Jackie L Scully; Nicole Millis; Michelle A Farrar
Journal:  Orphanet J Rare Dis       Date:  2022-04-18       Impact factor: 4.303

7.  The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.

Authors:  Libby Wood; Isabell Cordts; Antonio Atalaia; Chiara Marini-Bettolo; Paul Maddison; Margaret Phillips; Mark Roberts; Mark Rogers; Simon Hammans; Volker Straub; Richard Petty; Richard Orrell; Darren G Monckton; Nikoletta Nikolenko; Aura Cecilia Jimenez-Moreno; Rachel Thompson; David Hilton-Jones; Chris Turner; Hanns Lochmüller
Journal:  J Neurol       Date:  2017-04-10       Impact factor: 4.849

8.  Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

Authors:  Harumasa Nakamura; En Kimura; Madoka Mori-Yoshimura; Hirofumi Komaki; Yu Matsuda; Kanako Goto; Yukiko K Hayashi; Ichizo Nishino; Shin'ichi Takeda; Mitsuru Kawai
Journal:  Orphanet J Rare Dis       Date:  2013-04-19       Impact factor: 4.123

Review 9.  Therapeutic advances in muscular dystrophy.

Authors:  Doris G Leung; Kathryn R Wagner
Journal:  Ann Neurol       Date:  2013-09       Impact factor: 10.422

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

Authors:  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
Journal:  Orphanet J Rare Dis       Date:  2018-09-05       Impact factor: 4.123
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