Literature DB >> 18948006

157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.

Anna Sárközy1, Kate Bushby, Christophe Béroud, Hanns Lochmüller.   

Abstract

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Year:  2008        PMID： 18948006     DOI： 10.1016/j.nmd.2008.07.006

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


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  14 in total

1.  Collaborating to bring new therapies to the patient--the TREAT-NMD model.

Authors:  K Bushby; S Lynn; T Straub
Journal:  Acta Myol       Date:  2009-07

2.  199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.

Authors:  Anne T Bertrand; Carsten G Bönnemann; Gisèle Bonne
Journal:  Neuromuscul Disord       Date:  2014-02-14       Impact factor: 4.296

3.  Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

Authors:  Elena Cortés-Vicente; Rodrigo Álvarez-Velasco; Sonia Segovia; Carmen Paradas; Carlos Casasnovas; Antonio Guerrero-Sola; Julio Pardo; Alba Ramos-Fransi; Teresa Sevilla; Adolfo López de Munain; Maria Teresa Gómez; Ivonne Jericó; Gerardo Gutiérrez-Gutiérrez; Ana Lara Pelayo-Negro; María Asunción Martín; María Dolores Mendoza; Germán Morís; Ricard Rojas-Garcia; Jordi Díaz-Manera; Luis Querol; Eduard Gallardo; Beatriz Vélez; María Antonia Albertí; Lucía Galán; Tania García-Sobrino; Alicia Martínez-Piñeiro; Ana Lozano-Veintimilla; Roberto Fernández-Torrón; Ángel Cano-Abascal; Isabel Illa
Journal:  Neurology       Date:  2020-02-18       Impact factor: 9.910

4.  The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry.

Authors:  Shamsi Daneshvari; Sarah Youssof; Philip J Kroth
Journal:  AMIA Annu Symp Proc       Date:  2013-11-16

5.  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

6.  Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Authors:  Teresinha Evangelista; Libby Wood; Roberto Fernandez-Torron; Maggie Williams; Debbie Smith; Peter Lunt; Judith Hudson; Fiona Norwood; Richard Orrell; Tracey Willis; David Hilton-Jones; Karen Rafferty; Michela Guglieri; Hanns Lochmüller
Journal:  J Neurol       Date:  2016-05-09       Impact factor: 4.849

7.  'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Authors:  Hanns Lochmüller; Yann Le Cam; Anneliene H Jonker; Lilian Pl Lau; Gareth Baynam; Petra Kaufmann; Paul Lasko; Hugh Js Dawkins; Christopher P Austin; Kym M Boycott
Journal:  Eur J Hum Genet       Date:  2016-10-26       Impact factor: 4.246

8.  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

9.  The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.

Authors:  Yi Wei; Anna McCormick; Alex MacKenzie; Erin O'Ferrall; Shannon Venance; Jean K Mah; Kathryn Selby; Hugh J McMillan; Garth Smith; Maryam Oskoui; Gillian Hogan; Laura McAdam; Gracia Mabaya; Victoria Hodgkinson; Josh Lounsberry; Lawrence Korngut; Craig Campbell
Journal:  Paediatr Child Health       Date:  2017-12-08       Impact factor: 2.253

10.  The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Authors:  Hanns Lochmüller; Josep Torrent I Farnell; Yann Le Cam; Anneliene H Jonker; Lilian Pl Lau; Gareth Baynam; Petra Kaufmann; Hugh Js Dawkins; Paul Lasko; Christopher P Austin; Kym M Boycott
Journal:  Eur J Hum Genet       Date:  2017-11-20       Impact factor: 4.246
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