EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

(2013) Jaroslava Schwabova et al.   JOURNAL OF NEUROGENETICS

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

(2013) Roberta Biancheri et al.   JOURNAL OF NEUROLOGY

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

(2013) Ginevra Zanni et al.   NEUROGENETICS

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

(2013) S. Rudnik-Schoneborn et al.   NEUROLOGY

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

(2011) Alessandro Simonati et al.   ACTA NEUROPATHOLOGICA

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS