Phenotypic and molecular insights into CASK-related disorders in males

Pontocerebellar hypoplasia

(2014) Sabine Rudnik-Schöneborn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype

(2014) Simone Feurstein et al.   BMC GENOMICS

Identification and Glycerol-Induced Correction of Misfolding Mutations in the X-Linked Mental Retardation Gene CASK

(2014) Leslie E. W. LaConte et al.   PLoS One

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

(2013) Kazuyuki Nakamura et al.   BRAIN & DEVELOPMENT

Dysfunction ofSHANK2andCHRNA7in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

(2013) B Chilian et al.   CLINICAL GENETICS

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus

(2013) R. J. Watkins et al.   HUMAN MOLECULAR GENETICS

Clinical and radiological features of Japanese patients with a severe phenotype due toCASKmutations

(2012) Jun-ichi Takanashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

(2012) Hirotomo Saitsu et al.   EPILEPSIA

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

(2012) Lydie Burglen et al.   Orphanet Journal of Rare Diseases

Pontocerebellar hypoplasia type 3 with tetralogy of Fallot

(2011) Hideo Jinnou et al.   BRAIN & DEVELOPMENT

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

(2011) Shin Hayashi et al.   HUMAN GENETICS

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

MAGUKs, Synaptic Development, and Synaptic Plasticity

(2011) Chan-Ying Zheng et al.   NEUROSCIENTIST

Neuroradiologic Features ofCASKMutations

(2010) J. Takanashi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A Missense Mutation in CASK Causes FG Syndrome in an Italian Family

(2009) Giulio Piluso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Calcium/calmodulin-dependent serine protein kinase and mental retardation

(2009) Yi-Ping Hsueh   ANNALS OF NEUROLOGY

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

(2009) Anna Hackett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

CASK Functions as a Mg2+-Independent Neurexin Kinase

(2008) Konark Mukherjee et al.   CELL

Unusual 8p inverted duplication deletion with telomere capture from 8q

(2008) Karen Buysse et al.   European Journal of Medical Genetics

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS