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References

These sources were used to develop the Genetics Home Reference gene summary on the DYNC1H1 gene.

Entrez Gene
Eschbach J, Dupuis L. Cytoplasmic dynein in neurodegeneration. Pharmacol Ther. 2011 Jun;130(3):348-63. doi: 10.1016/j.pharmthera.2011.03.004. Epub 2011 Mar 21. Review. PubMed citation
Harms MB, Allred P, Gardner R Jr, Fernandes Filho JA, Florence J, Pestronk A, Al-Lozi M, Baloh RH. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c. PubMed citation
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28. PubMed citation
Levy JR, Holzbaur EL. Cytoplasmic dynein/dynactin function and dysfunction in motor neurons. Int J Dev Neurosci. 2006 Apr-May;24(2-3):103-11. Epub 2006 Jan 6. Review. PubMed citation
OMIM: DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1
Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4. PubMed citation

Reviewed: January 2013

Published: May 20, 2013