Literature DB >> 7719137

Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q.

V Dubowitz1, R J Daniels, K E Davies.   

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Year:  1995        PMID: 7719137     DOI: 10.1016/0960-8966(94)00043-9

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


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  3 in total

1.  Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.

Authors:  E F Tizzano; C Cabot; M Baiget
Journal:  Am J Pathol       Date:  1998-08       Impact factor: 4.307

2.  Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Authors:  Sabine Rudnik-Schöneborn; Jan Senderek; Joanna C Jen; Gunnar Houge; Pavel Seeman; Alena Puchmajerová; Luitgard Graul-Neumann; Ulrich Seidel; Rudolf Korinthenberg; Janbernd Kirschner; Jürgen Seeger; Monique M Ryan; Francesco Muntoni; Maja Steinlin; Laszlo Sztriha; Jaume Colomer; Christoph Hübner; Knut Brockmann; Lionel Van Maldergem; Manuel Schiff; Andreas Holzinger; Peter Barth; William Reardon; Michael Yourshaw; Stanley F Nelson; Thomas Eggermann; Klaus Zerres
Journal:  Neurology       Date:  2013-01-02       Impact factor: 9.910

Review 3.  Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Authors:  Yasmin Namavar; Peter G Barth; Bwee Tien Poll-The; Frank Baas
Journal:  Orphanet J Rare Dis       Date:  2011-07-12       Impact factor: 4.123

  3 in total

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