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Li, V. DYNC1H1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5013 (accessed on 22 September 2026).
Li V. DYNC1H1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5013. Accessed September 22, 2026.
Li, Vivi. "DYNC1H1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5013 (accessed September 22, 2026).
Li, V. (2020, December 24). DYNC1H1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5013
Li, Vivi. "DYNC1H1 Gene." Encyclopedia. Web. 24 December, 2020.
DYNC1H1 Gene
Edit

Dynein Cytoplasmic 1 Heavy Chain 1

genes

References

  1. Eschbach J, Dupuis L. Cytoplasmic dynein in neurodegeneration. Pharmacol Ther.2011 Jun;130(3):348-63. doi: 10.1016/j.pharmthera.2011.03.004.Review.
  2. 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 dominantspinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. doi:10.1212/WNL.0b013e3182556c05.
  3. 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.Review.
  4. Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY,Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, ConnollyAM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C,Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F.Novel mutations expand the clinical spectrum of DYNC1H1-associated spinalmuscular atrophy. Neurology. 2015 Feb 17;84(7):668-79. doi:10.1212/WNL.0000000000001269.
  5. Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS,Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M,Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, ShyME, Auer-Grumbach M. Mutation screen reveals novel variants and expands thephenotypes associated with DYNC1H1. J Neurol. 2015 Sep;262(9):2124-34. doi:10.1007/s00415-015-7727-2.
  6. 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-Toothdisease. Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi:10.1016/j.ajhg.2011.07.002.
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