Literature DB >> 23521069

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.

G Schottmann1, W Stenzel, S Lützkendorf, M Schuelke, E Knierim.   

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Year:  2013        PMID： 23521069     DOI： 10.1111/cge.12137

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Authors:  Gauthier Remiche; Isabelle Vandernoot; Niloufar Sadeghi-Meibodi; Laurence Desmyter
Journal:  Neurogenetics       Date:  2021-01-04       Impact factor: 2.660

Review 2.  Neurodegeneration with Brain Iron Accumulation.

Authors:  Susanne A Schneider
Journal:  Curr Neurol Neurosci Rep       Date:  2016-01       Impact factor: 5.081

Review 3.  Newly characterized forms of neurodegeneration with brain iron accumulation.

Authors:  Joshua M Doorn; Michael C Kruer
Journal:  Curr Neurol Neurosci Rep       Date:  2013-12       Impact factor: 5.081

Review 4.  Neurodegeneration with brain iron accumulation: diagnosis and management.

Authors:  Penelope Hogarth
Journal:  J Mov Disord       Date:  2015-01-13

5.  Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.

Authors:  Arcangela Iuso; Ody C M Sibon; Matteo Gorza; Katharina Heim; Cristina Organisti; Thomas Meitinger; Holger Prokisch
Journal:  PLoS One       Date:  2014-02-21       Impact factor: 3.240
  5 in total

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