CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

[1]  John A. Sweeney,et al.  Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes , 2009, PLoS genetics.

[2]  Robert T. Schultz,et al.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes , 2009, Nature.

[3]  C. Klämbt,et al.  Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper , 2009, Development.

[4]  D. Sokol,et al.  Gene associated with seizures, autism, and hepatomegaly in an Amish girl. , 2009, Pediatric neurology.

[5]  A. Munnich,et al.  Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome , 2009, Human mutation.

[6]  Y. Humeau,et al.  X‐linked mental retardation: focus on synaptic function and plasticity , 2009, Journal of neurochemistry.

[7]  Thomas Bourgeron,et al.  A synaptic trek to autism , 2009, Current Opinion in Neurobiology.

[8]  Swati Banerjee,et al.  Neurexin IV and Wrapper interactions mediate Drosophila midline glial migration and axonal ensheathment , 2009, Development.

[9]  Elvira Bramon,et al.  Disruption of the neurexin 1 gene is associated with schizophrenia. , 2009, Human molecular genetics.

[10]  D. Geschwind,et al.  A functional genetic link between distinct developmental language disorders. , 2008, The New England journal of medicine.

[11]  N. Philip,et al.  TCF4 Deletions in Pitt‐Hopkins Syndrome , 2008, Human mutation.

[12]  T. Südhof Neuroligins and neurexins link synaptic function to cognitive disease , 2008, Nature.

[13]  S. Laroche,et al.  Genes, plasticity and mental retardation , 2008, Behavioural Brain Research.

[14]  J. Clayton-Smith,et al.  Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients , 2008, Journal of Medical Genetics.

[15]  C. Skinner,et al.  Neurexin 1α structural variants associated with autism , 2008, Neuroscience Letters.

[16]  J A Veltman,et al.  CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy , 2008, Molecular Psychiatry.

[17]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[18]  Yiping Shen,et al.  Disruption of neurexin 1 associated with autism spectrum disorder. , 2008, American journal of human genetics.

[19]  Tanya M. Teslovich,et al.  A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. , 2008, American journal of human genetics.

[20]  Katarzyna Chawarska,et al.  Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. , 2008, American journal of human genetics.

[21]  J. Sebat,et al.  Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. , 2008, American journal of human genetics.

[22]  M. Rieder,et al.  Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum , 2008, Nature Genetics.

[23]  J M Friedman,et al.  A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α , 2007, Journal of Medical Genetics.

[24]  V. Budnik,et al.  Crucial Role of Drosophila Neurexin in Proper Active Zone Apposition to Postsynaptic Densities, Synaptic Growth, and Synaptic Transmission , 2007, Neuron.

[25]  A. Hoischen,et al.  Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. , 2007, Human molecular genetics.

[26]  Xiankun Zeng,et al.  Neurexin‐1 is required for synapse formation and larvae associative learning in Drosophila , 2007, FEBS letters.

[27]  Nathalie Boddaert,et al.  Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. , 2007, American journal of human genetics.

[28]  Juliane Hoyer,et al.  Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). , 2007, American journal of human genetics.

[29]  Z. Tümer,et al.  Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome , 2007, European Journal of Human Genetics.

[30]  M. Oti,et al.  The modular nature of genetic diseases , 2006, Clinical genetics.

[31]  Thomas Bourgeron,et al.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders , 2007, Nature Genetics.

[32]  Charles E. Schwartz,et al.  High frequency of neurexin 1β signal peptide structural variants in patients with autism , 2006, Neuroscience Letters.

[33]  Juliane Hoyer,et al.  Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation , 2006, American journal of medical genetics. Part A.

[34]  D. Stephan,et al.  Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. , 2006, The New England journal of medicine.

[35]  Stephan J. Sigrist,et al.  Bruchpilot, a Protein with Homology to ELKS/CAST, Is Required for Structural Integrity and Function of Synaptic Active Zones in Drosophila , 2006, Neuron.

[36]  T. Südhof,et al.  Extracellular Domains of α-Neurexins Participate in Regulating Synaptic Transmission by Selectively Affecting N- and P/Q-Type Ca2+ Channels , 2005, The Journal of Neuroscience.

[37]  T. Südhof,et al.  Extracellular domains of alpha-neurexins participate in regulating synaptic transmission by selectively affecting N- and P/Q-type Ca2+ channels. , 2005, The Journal of neuroscience : the official journal of the Society for Neuroscience.

[38]  Albert David,et al.  X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. , 2004, American journal of human genetics.

[39]  Jennifer K Inlow,et al.  Molecular and comparative genetics of mental retardation. , 2004, Genetics.

[40]  Colin L. Stewart,et al.  Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1 , 2003, The Journal of cell biology.

[41]  P. Heutink,et al.  CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. , 2003, Genomics.

[42]  L. Brodin Faculty Opinions recommendation of Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis. , 2003 .

[43]  T. Südhof,et al.  α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis , 2003, Nature.

[44]  F. Torricelli,et al.  Possible case of Pitt-Hopkins syndrome in sibs. , 2001, American journal of medical genetics.

[45]  Lon R. Cardon,et al.  GRR: graphical representation of relationship errors , 2001, Bioinform..

[46]  E. Peles,et al.  Internodal specializations of myelinated axons in the central nervous system , 2001, Cell and Tissue Research.

[47]  V. Budnik,et al.  Drosophila larval neuromuscular junction: Molecular components and mechanisms underlying synaptic plasticity , 2000, Microscopy research and technique.

[48]  Peter Shrager,et al.  Caspr2, a New Member of the Neurexin Superfamily, Is Localized at the Juxtaparanodes of Myelinated Axons and Associates with K+ Channels , 1999, Neuron.

[49]  H. Bellen,et al.  Neurexin IV, caspr and paranodin—novel members of the neurexin family: encounters of axons and glia , 1998, Trends in Neurosciences.

[50]  T. Südhof,et al.  Neurexins: three genes and 1001 products. , 1998, Trends in genetics : TIG.

[51]  Andreas Prokop,et al.  A Drosophila Neurexin Is Required for Septate Junction and Blood-Nerve Barrier Formation and Function , 1996, Cell.

[52]  Y. Jan,et al.  Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence , 1989, Cell.

[53]  Y. Jan,et al.  daughterless, a Drosophila gene essential for both neurogenesis and sex determination, has sequence similarities to myc and the achaete-scute complex , 1988, Cell.

[54]  L. Buchanan Mental retardation. , 1972, The Medical journal of Australia.