Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Annals of Neurology

• Publication date

  2014-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ana.24119PMID 24700542PMCID PMC4457323
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

  2012influential reference
• Familial dyskinesia and facial myokymia (FDFM): Follow‐up of a large family and linkage to chromosome 3p21‐3q21

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  2008cited by this paper
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  2007cited by this paper
• Molecular details of cAMP generation in mammalian cells: a tale of two systems.

  2006cited by this paper
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  2006cited by this paper
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  2005cited by this paper
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  2004cited by this paper
• M-channels: neurological diseases, neuromodulation, and drug development.

  2003cited by this paper
• Motor Dysfunction in Type 5 Adenylyl Cyclase-null Mice*

  2003cited by this paper
• Recent Segmental Duplications in the Human Genome

  2002cited by this paper
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  2001cited by this paper
• Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

  2001cited by this paper
• Cytosolic adenylyl cyclase defines a unique signaling molecule in mammals.

  1999cited by this paper
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  1997cited by this paper
• Interaction of the two cytosolic domains of mammalian adenylyl cyclase.

  1996cited by this paper
• Cellular responsiveness to hormones and neurotransmitters: conversion of [3H]adenine to [3H]cAMP in cell monolayers, cell suspensions, and tissue slices.

  1991cited by this paper
• Additional information on familial essential (benign) chorea

  1978cited by this paper
• Familial essential ("benign") chorea.

  1976cited by this paper

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