Associated Papers
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
Tsurusaki Y et al.
Neurogenetics, 2012
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Willemsen MH et al.
Journal of Medical Genetics, 2012
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
Weedon MN et al.
American Journal of Human Genetics, 2011
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