Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort-Reference-Cited by-同舟云学术

Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

Published:2012-09-10 Issue:10 Volume:135 Page:2994-3004
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

van Gassen Koen L. I.,van der Heijden Charlotte D. C. C.,de Bot Susanne T.,den Dunnen Wilfred F. A.,van den Berg Leonard H.,Verschuuren-Bemelmans Corien C.,Kremer H. P. H.,Veldink Jan H.,Kamsteeg Erik-Jan,Scheffer Hans,van de Warrenburg Bart P.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/135/10/2994/17346553/aws224.pdf

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2. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia;Arnoldi;Hum Mutat,2008

3. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia;Atorino;J Cell Biol,2003

4. Functional evaluation of paraplegin mutations by a yeast complementation assay;Bonn;Hum Mutat,2010

5. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes;Brugman;Neurology,2008

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