Literature DB >> 22833003

"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia.

S Zittel, M Nickel, N I Wolf, G Uyanik, D Gläser, C Ganos, C Gerloff, A Münchau, A Kohlschütter.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 22833003     DOI： 10.1007/s00415-012-6617-0

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  6 in total

1.  Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Authors:  Nicole I Wolf; Maria Cundall; Paul Rutland; Elisabeth Rosser; Robert Surtees; Sarah Benton; Wui K Chong; Sue Malcolm; Friedrich Ebinger; Maria Bitner-Glindzicz; Karen J Woodward
Journal:  Neurogenetics       Date:  2006-09-13       Impact factor: 2.660

2.  Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Authors:  Marjan E Steenweg; Adeline Vanderver; Susan Blaser; Alberto Bizzi; Tom J de Koning; Grazia M S Mancini; Wessel N van Wieringen; Frederik Barkhof; Nicole I Wolf; Marjo S van der Knaap
Journal:  Brain       Date:  2010-10       Impact factor: 13.501

3.  GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

Authors:  M Bugiani; S Al Shahwan; E Lamantea; A Bizzi; E Bakhsh; I Moroni; M R Balestrini; G Uziel; M Zeviani
Journal:  Neurology       Date:  2006-05-17       Impact factor: 9.910

4.  Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Authors:  Jennifer L Orthmann-Murphy; Ettore Salsano; Charles K Abrams; Alberto Bizzi; Graziella Uziel; Mona M Freidin; Eleonora Lamantea; Massimo Zeviani; Steven S Scherer; Davide Pareyson
Journal:  Brain       Date:  2008-12-04       Impact factor: 13.501

5.  Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Authors:  Birgit Uhlenberg; Markus Schuelke; Franz Rüschendorf; Nico Ruf; Angela M Kaindl; Marco Henneke; Holger Thiele; Gisela Stoltenburg-Didinger; Fuat Aksu; Haluk Topaloğlu; Peter Nürnberg; Christoph Hübner; Bernhard Weschke; Jutta Gärtner
Journal:  Am J Hum Genet       Date:  2004-06-10       Impact factor: 11.025

6.  GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

Authors:  M Henneke; P Combes; S Diekmann; E Bertini; K Brockmann; A P Burlina; J Kaiser; A Ohlenbusch; B Plecko; D Rodriguez; O Boespflug-Tanguy; J Gärtner
Journal:  Neurology       Date:  2007-12-19       Impact factor: 9.910
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.