Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

Published:2013-03-25 Issue:2 Volume:85 Page:154-158
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bettencourt C.¹²,López-Sendón J.L.³,García-Caldentey J.³,Rizzu P.⁴,Bakker I.M.C.⁴,Shomroni O.⁴,Quintáns B.⁵,Dávila J.R.⁶,Bevova M.R.⁴,Sobrido M.-J.⁵,Heutink P.⁴,de Yébenes J.G.³

Affiliation:

1. Institute for Molecular and Cell Biology (IBMC); University of Porto; Porto Portugal

2. Center of Research in Natural Resources (CIRN) and Department of Biology; University of the Azores; Ponta Delgada Portugal

3. Department of Neurology; Hospital Ramón y Cajal; Madrid Spain

4. Section of Medical Genomics, Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands

5. Fundación Publica Galega de Medicina Xenómica and Health Research Institute of Santiago de Compostela (IDIS); Clinical Hospital of Santiago de Compostela-SERGAS; Santiago de Compostela Spain

6. Departamento de Bioquímica y Biología Molecular III, Facultad de Medicina; Universidad Complutense de Madrid; Madrid Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance;Finsterer;J Neurol Sci,2012

2. Hereditary spastic paraplegias: an update;Depienne;Curr Opin Neurol,2007

3. Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias;Bettencourt;Hum Mutat,2012

4. Revisiting Mendelian disorders through exome sequencing;Ku;Hum Genet,2011

5. Genetics of neurodegenerative diseases: insights from high-throughput resequencing;Tsuji;Hum Mol Genet,2010

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