Literature DB >> 22999565

The New Zealand Neuromuscular Disease Registry.

Miriam Rodrigues1, Graeme Hammond-Tooke, Alexa Kidd, Donald Love, Rakesh Patel, Hugh Dawkins, Matthew Bellgard, Richard Roxburgh.   

Abstract

The development of effective treatments for neuromuscular diseases is a significant challenge due to difficulties in identifying adequate numbers of patients for clinical trials. Low patient numbers in these rare diseases also has an effect when establishing sound clinical practices based on experience gained from patients with similar diagnosis. The Muscular Dystrophy Association of New Zealand (MDA), working in consort with interested clinicians has established the New Zealand Neuromuscular Disease (NZ NMD) Registry in order to help address these problems. The NZ NMD Registry is exceptional in that it comprises one registry for all neuromuscular conditions and will significantly benefit both patients with neuromuscular disease and their clinicians.
Copyright © 2012 Elsevier Ltd. All rights reserved.

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Year:  2012        PMID： 22999565     DOI： 10.1016/j.jocn.2012.04.008

Source DB:  PubMed          Journal:  J Clin Neurosci        ISSN： 0967-5868            Impact factor:   1.961


  7 in total

1.  New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

Authors:  Rosário Santos; Ana Gonçalves; Jorge Oliveira; Emília Vieira; José Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Elsa Bronze-da-Rocha
Journal:  J Hum Genet       Date:  2014-07-10       Impact factor: 3.172

2.  A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.

Authors:  Alice Theadom; Miriam Rodrigues; Gemma Poke; Gina O'Grady; Donald Love; Graeme Hammond-Tooke; Priya Parmar; Ronelle Baker; Valery Feigin; Kelly Jones; Braden Te Ao; Anna Ranta; Richard Roxburgh
Journal:  Neuroepidemiology       Date:  2019-01-18       Impact factor: 3.282

3.  Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR).

Authors:  Anna J Roy; Peter Van den Bergh; Philip Van Damme; Kris Doggen; Viviane Van Casteren
Journal:  Acta Neurol Belg       Date:  2014-06-24       Impact factor: 2.396

4.  Second generation registry framework.

Authors:  Matthew I Bellgard; Lee Render; Maciej Radochonski; Adam Hunter
Journal:  Source Code Biol Med       Date:  2014-06-20

5.  The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients.

Authors:  Miriam J Rodrigues; Gina L O'Grady; Graeme Hammond-Tooke; Alexa Kidd; Donald O Love; Ronelle K Baker; Richard H Roxburgh
Journal:  J Neuromuscul Dis       Date:  2017

6.  Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study.

Authors:  Alice Theadom; Richard Roxburgh; Erin MacAulay; Gina O'Grady; Joshua Burns; Priya Parmar; Kelly Jones; Miriam Rodrigues
Journal:  BMJ Open       Date:  2019-06-14       Impact factor: 2.692

7.  Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.

Authors:  Christophe Béroud; Sabrina Sacconi; Benoît Sanson; Caroline Stalens; Céline Guien; Luisa Villa; Catherine Eng; Sitraka Rabarimeriarijaona; Rafaëlle Bernard; Pascal Cintas; Guilhem Solé; Vincent Tiffreau; Andoni Echaniz-Laguna; Armelle Magot; Raul Juntas Morales; François Constant Boyer; Aleksandra Nadaj-Pakleza; Agnès Jacquin-Piques
Journal:  Orphanet J Rare Dis       Date:  2022-03-02       Impact factor: 4.123
  7 in total

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