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References

These sources were used to develop the Genetics Home Reference gene summary on the JPH3 gene.

Entrez Gene
Greenstein PE, Vonsattel JP, Margolis RL, Joseph JT. Huntington's disease like-2 neuropathology. Mov Disord. 2007 Jul 30;22(10):1416-23. PubMed citation
Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol. 2001 Dec;50(6):373-80. PubMed citation
Nishi M, Mizushima A, Nakagawara K, Takeshima H. Characterization of human junctophilin subtype genes. Biochem Biophys Res Commun. 2000 Jul 14;273(3):920-7. PubMed citation
Rudnicki DD, Pletnikova O, Vonsattel JP, Ross CA, Margolis RL. A comparison of huntington disease and huntington disease-like 2 neuropathology. J Neuropathol Exp Neurol. 2008 Apr;67(4):366-74. PubMed citation
Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K. Junctophilins: a novel family of junctional membrane complex proteins. Mol Cell. 2000 Jul;6(1):11-22. PubMed citation
Walker RH, Jankovic J, O'Hearn E, Margolis RL. Phenotypic features of Huntington's disease-like 2. Mov Disord. 2003 Dec;18(12):1527-30. PubMed citation

Reviewed: August 2008

Published: May 21, 2012