Literature DB >> 16801664

Mitochondrial disease in adults: a scale to monitor progression and treatment.

A M Schaefer1, C Phoenix, J L Elson, R McFarland, P F Chinnery, D M Turnbull.   

Abstract

The natural history of mitochondrial diseases is poorly understood, limiting our ability to offer prognostic advice to patients or to evaluate therapy. One major obstacle to improving our understanding is the lack of a clinical rating scale to monitor the extensive clinical spectrum of mitochondrial disease. In this article, the authors describe the development and validation of a practical and semiquantitative rating scale, the Newcastle Mitochondrial Disease Adult Scale.

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Year:  2006        PMID: 16801664     DOI: 10.1212/01.wnl.0000219759.72195.41

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


  60 in total

1.  Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.

Authors:  Kun Zhu; Shuang Li; Huan Chen; Yao Wang; Miao Yu; Hongyan Wang; Weijie Zhao; Yunpeng Cao
Journal:  Metab Brain Dis       Date:  2017-03-21       Impact factor: 3.584

2.  Growth Differentiation Factor 15 Is a Novel Diagnostic Biomarker of Mitochondrial Diseases.

Authors:  Xinbo Ji; Lizhen Zhao; Kunqian Ji; Yuying Zhao; Wei Li; Rui Zhang; Ying Hou; Jianqiang Lu; Chuanzhu Yan
Journal:  Mol Neurobiol       Date:  2016-11-26       Impact factor: 5.590

3.  Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

Authors:  Saskia Koene; Paul de Laat; Doorlène H van Tienoven; Gert Weijers; Dennis Vriens; Fred C G J Sweep; Janneke Timmermans; Livia Kapusta; Mirian C H Janssen; Jan A M Smeitink
Journal:  JIMD Rep       Date:  2015-05-13

4.  Psychiatric involvement in adult patients with mitochondrial disease.

Authors:  Michelangelo Mancuso; Daniele Orsucci; Elena Caldarazzo Ienco; Eleonora Pini; Anna Choub; Gabriele Siciliano
Journal:  Neurol Sci       Date:  2011-12-23       Impact factor: 3.307

Review 5.  Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Authors:  Kathryn M Camp; Danuta Krotoski; Melissa A Parisi; Katrina A Gwinn; Bruce H Cohen; Christine S Cox; Gregory M Enns; Marni J Falk; Amy C Goldstein; Rashmi Gopal-Srivastava; Gráinne S Gorman; Stephen P Hersh; Michio Hirano; Freddie Ann Hoffman; Amel Karaa; Erin L MacLeod; Robert McFarland; Charles Mohan; Andrew E Mulberg; Joanne C Odenkirchen; Sumit Parikh; Patricia J Rutherford; Shawne K Suggs-Anderson; W H Wilson Tang; Jerry Vockley; Lynne A Wolfe; Steven Yannicelli; Philip E Yeske; Paul M Coates
Journal:  Mol Genet Metab       Date:  2016-09-20       Impact factor: 4.797

6.  Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation.

Authors:  Michelangelo Mancuso; Daniele Orsucci; Annalisa Logerfo; Anna Rocchi; Lucia Petrozzi; Claudia Nesti; Fabio Galetta; Gino Santoro; Luigi Murri; Gabriele Siciliano
Journal:  J Neurol       Date:  2009-12-04       Impact factor: 4.849

7.  Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Authors:  Judith Altmann; Boriana Büchner; Aleksandra Nadaj-Pakleza; Jochen Schäfer; Sandra Jackson; Diana Lehmann; Marcus Deschauer; Robert Kopajtich; Ronald Lautenschläger; Klaus A Kuhn; Kathrin Karle; Ludger Schöls; Jörg B Schulz; Joachim Weis; Holger Prokisch; Cornelia Kornblum; Kristl G Claeys; Thomas Klopstock
Journal:  J Neurol       Date:  2016-03-19       Impact factor: 4.849

Review 8.  How can we treat mitochondrial encephalomyopathies? Approaches to therapy.

Authors:  Rita Horvath; Grainne Gorman; Patrick F Chinnery
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620

9.  Toward a mtDNA locus-specific mutation database using the LOVD platform.

Authors:  Joanna L Elson; Mary G Sweeney; Vincent Procaccio; John W Yarham; Antonio Salas; Qing-Peng Kong; Francois H van der Westhuizen; Robert D S Pitceathly; David R Thorburn; Marie T Lott; Douglas C Wallace; Robert W Taylor; Robert McFarland
Journal:  Hum Mutat       Date:  2012-07-02       Impact factor: 4.878

10.  Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability.

Authors:  Heather L Moore; Thomas Kelly; Alexandra Bright; Robert H Field; Andrew M Schaefer; Alasdair P Blain; Robert W Taylor; Robert McFarland; Doug M Turnbull; Gráinne S Gorman
Journal:  Ann Clin Transl Neurol       Date:  2019-03-27       Impact factor: 4.511

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