tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

doi:10.1038/ng.204

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Article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Nature genetics - 1 Sept 2008

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, te Beek Erik T, Aronica Eleonora, van der Knaap Marjo S, Höhne Wolfgang, Toliat Mohammad Reza, Crow Yanick J, Steinling Maja, Voit Thomas, Roelenso 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

Abstract excerpt

Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes,...

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PMID: 18711368
DOI: 10.1038/ng.204

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18711368-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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