tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia-Reference-Cited by-同舟云学术

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Published:2008-08-17 Issue:9 Volume:40 Page:1113-1118
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Budde Birgit S,Namavar Yasmin,Barth Peter G,Poll-The Bwee Tien,Nürnberg Gudrun,Becker Christian,van Ruissen Fred,Weterman Marian A J,Fluiter Kees,T te Beek Erik,Aronica Eleonora,van der Knaap Marjo S,Höhne Wolfgang,Toliat Mohammad Reza,Crow Yanick J,Steinlin Maja,Voit Thomas,Roelens Filip,Brussel Wim,Brockmann Knut,Kyllerman Marten,Boltshauser Eugen,Hammersen Gerhard,Willemsen Michèl,Basel-Vanagaite Lina,Krägeloh-Mann Ingeborg,de Vries Linda S,Sztriha Laszlo,Muntoni Francesco,Ferrie Colin D,Battini Roberta,Hennekam Raoul C M,Grillo Eugenio,Beemer Frits A,Stoets Loes M E,Wollnik Bernd,Nürnberg Peter,Baas Frank

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.204.pdf

Reference19 articles.

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2. Goutieres, F., Aicardi, J. & Farkas, E. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J. Neurol. Neurosurg. Psychiatry 40, 370–378 (1977).

3. Barth, P.G. et al. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. Neurology 45, 311–317 (1995).

4. Albrecht, S., Schneider, M.C., Belmont, J. & Armstrong, D.L. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. Acta Neuropathol. 85, 394–399 (1993).

5. Rajab, A. et al. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11–21. Neurology 60, 1664–1667 (2003).

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