1 to 4 of 4 literature results

• Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

  Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. H…

  Authors: Ingo Kurth, Torsten Pamminger, J Christopher Hennings, Désirée Soehendra, Antje K Huebner, Annelies Rotthier, Jonathan Baets, Jan Senderek, Haluk Topaloglu, Sandra A Farrell,…

  Source: Nature genetics. 2009 Nov

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• Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

  Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor k…

  Authors: Sara Sebnem Kilic, Rifatcan Ozturk, Bartu Sarisozen, Annelies Rotthier, Jonathan Baets, Vincent Timmerman

  Source: Neurogenetics. 2009 Apr

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• A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

  Hereditary sensory neuropathy type 1 (HSAN I) is an autosomal dominant inherited neurodegenerative disorder of the peripheral nervous system associate…

  Authors: Thorsten Hornemann, Anke Penno, Stephane Richard, Garth Nicholson, Fleur S van Dijk, Annelies Rotthier, Vincent Timmerman, Arnold von Eckardstein

  Source: Neurogenetics. 2009 Apr

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• Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

  Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degene…

  Authors: Annelies Rotthier, Jonathan Baets, Els De Vriendt, An Jacobs, Michaela Auer-Grumbach, Nicolas Lévy, Nathalie Bonello-Palot, Sara Sebnem Kilic, Joachim Weis, Andrés Nascimento,…

  Source: Brain : a journal of neurology. 2009 Oct

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