A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

(2012) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

(2012) M. B. Harms et al.   NEUROLOGY

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

(2011) Hiroshi Doi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy

(2011) Y Tsurusaki et al.   CLINICAL GENETICS

Neuronal migration defects in the Loa dynein mutant mouse

(2011) Kassandra M Ori-McKenney et al.   Neural Development