Literature DB >> 20574035

One gene, one or many diseases? Simplifying dysferlinopathy.

Kate Bushby, Volker Straub.   

Abstract

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Year:  2010        PMID: 20574035     DOI: 10.1212/WNL.0b013e3181ea1649

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  3 in total

1.  The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Authors:  Elizabeth Harris; Catherine L Bladen; Anna Mayhew; Meredith James; Karen Bettinson; Ursula Moore; Fiona E Smith; Laura Rufibach; Avital Cnaan; Diana X Bharucha-Goebel; Andrew M Blamire; Elena Bravver; Pierre G Carlier; John W Day; Jordi Díaz-Manera; Michelle Eagle; Ulrike Grieben; Matthew Harms; Kristi J Jones; Hanns Lochmüller; Jerry R Mendell; Madoka Mori-Yoshimura; Carmen Paradas; Elena Pegoraro; Alan Pestronk; Emmanuelle Salort-Campana; Olivia Schreiber-Katz; Claudio Semplicini; Simone Spuler; Tanya Stojkovic; Volker Straub; Shin'ich Takeda; Carolina Tesi Rocha; M C Walter; Kate Bushby
Journal:  Neurol Genet       Date:  2016-08-04

2.  Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Authors:  Ursula Moore; Marni Jacobs; Meredith K James; Anna G Mayhew; Roberto Fernandez-Torron; Jia Feng; Avital Cnaan; Michelle Eagle; Karen Bettinson; Laura E Rufibach; Robert Muni Lofra; Andrew M Blamire; Pierre G Carlier; Plavi Mittal; Linda Pax Lowes; Lindsay Alfano; Kristy Rose; Tina Duong; Katherine M Berry; Elena Montiel-Morillo; Irene Pedrosa-Hernández; Scott Holsten; Mohammed Sanjak; Ai Ashida; Chikako Sakamoto; Takayuki Tateishi; Hiroyuki Yajima; Aurélie Canal; Gwenn Ollivier; Valerie Decostre; Juan Bosco Mendez; Nieves Sánchez-Aguilera Praxedes; Simone Thiele; Catherine Siener; Jeanine Shierbecker; Julaine M Florence; Bruno Vandevelde; Brittney DeWolf; Meghan Hutchence; Richard Gee; Juliana Prügel; Elke Maron; Heather Hilsden; Hanns Lochmüller; Ulrike Grieben; Simone Spuler; Carolina Tesi Rocha; John W Day; Kristi J Jones; Diana X Bharucha-Goebel; Emmanuelle Salort-Campana; Matthew Harms; Alan Pestronk; Sabine Krause; Olivia Schreiber-Katz; Maggie C Walter; Carmen Paradas; Jean-Yves Hogrel; Tanya Stojkovic; Shin'ichi Takeda; Madoka Mori-Yoshimura; Elena Bravver; Susan Sparks; Jordi Díaz-Manera; Luca Bello; Claudio Semplicini; Elena Pegoraro; Jerry R Mendell; Kate Bushby; Volker Straub
Journal:  Neurology       Date:  2019-01-09       Impact factor: 9.910

3.  Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.

Authors:  Anna G Mayhew; Meredith K James; Ursula Moore; Helen Sutherland; Marni Jacobs; Jia Feng; Linda Pax Lowes; Lindsay N Alfano; Robert Muni Lofra; Laura E Rufibach; Kristy Rose; Tina Duong; Luca Bello; Irene Pedrosa-Hernández; Scott Holsten; Chikako Sakamoto; Aurélie Canal; Nieves Sánchez-Aguilera Práxedes; Simone Thiele; Catherine Siener; Bruno Vandevelde; Brittney DeWolf; Elke Maron; Heather Gordish-Dressman; Heather Hilsden; Michela Guglieri; Jean-Yves Hogrel; Andrew M Blamire; Pierre G Carlier; Simone Spuler; John W Day; Kristi J Jones; Diana X Bharucha-Goebel; Emmanuelle Salort-Campana; Alan Pestronk; Maggie C Walter; Carmen Paradas; Tanya Stojkovic; Madoka Mori-Yoshimura; Elena Bravver; Jordi Díaz-Manera; Elena Pegoraro; Jerry R Mendell; Volker Straub
Journal:  Front Neurol       Date:  2022-03-10       Impact factor: 4.003

  3 in total

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