4.6 Article

Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Genetics & Heredity

Genetic T-type calcium channelopathies

Norbert Weiss et al.

JOURNAL OF MEDICAL GENETICS (2020)

Article Behavioral Sciences

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort

Eduarda Morgana da Silva Montenegro et al.

AUTISM RESEARCH (2020)

Review Biochemistry & Molecular Biology

Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders

Arturo Andrade et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Article Biochemistry & Molecular Biology

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

Elizabeth K. Ruzzo et al.

Article Genetics & Heredity

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Pamela Feliciano et al.

NPJ GENOMIC MEDICINE (2019)

Article Biochemistry & Molecular Biology

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

Melissa T. Carter et al.

CHANNELS (2019)

Review Neurosciences

Calcium Channels, Synaptic Plasticity, and Neuropsychiatric Disease

Evanthia Nanou et al.

NEURON (2018)

Article Psychology, Developmental

Heritability of autism spectrum disorders: a meta-analysis of twin studies

Beata Tick et al.

JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2016)

Review Biotechnology & Applied Microbiology

Targeting voltage-gated calcium channels in neurological and psychiatric diseases

Gerald W. Zamponi

NATURE REVIEWS DRUG DISCOVERY (2016)

Review Neurosciences

From the genetic architecture to synaptic plasticity in autism spectrum disorder

Thomas Bourgeron

NATURE REVIEWS NEUROSCIENCE (2015)

Article Multidisciplinary Sciences

Low load for disruptive mutations in autism genes and their biased transmission

Ivan Iossifov et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Article Multidisciplinary Sciences

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

Karyn Meltz Steinberg et al.

SCIENTIFIC REPORTS (2015)

Article Biochemical Research Methods

Protter: interactive protein feature visualization and integration with experimental proteomic data

Ulrich Omasits et al.

BIOINFORMATICS (2014)

Article Multidisciplinary Sciences

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis et al.

NATURE (2014)

Article Multidisciplinary Sciences

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov et al.

NATURE (2014)

Review Physiology

T-type channel-mediated neurotransmitter release

Emilio Carbone et al.

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2014)

Article Genetics & Heredity

Channelopathy pathogenesis in autism spectrum disorders

Galina Schmunk et al.

Frontiers in Genetics (2013)

Article Biochemistry & Molecular Biology

A Cav3.2/Syntaxin-1A Signaling Complex Controls T-type Channel Activity and Low-threshold Exocytosis

Norbert Weiss et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Review Neurosciences

Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond

Annette C. Dolphin

NATURE REVIEWS NEUROSCIENCE (2012)

Article Biochemistry & Molecular Biology

Characterization of the gating brake in the I-II loop of Cav3.2 T-type Ca2+ channels

Imilla I. Arias-Olguin et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Biochemistry & Molecular Biology

CACNA1H mutations in autism spectrum disorders

Igor Splawski et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Article Biochemistry & Molecular Biology

Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy

H Khosravani et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2004)

Review Physiology

Molecular physiology of low-voltage-activated T-type calcium channels

E Perez-Reyes

PHYSIOLOGICAL REVIEWS (2003)

Article Biochemistry & Molecular Biology

Aspartate residues of the Glu-Glu-Asp-Asp (EEDD) pore locus control selectivity and permeation of the T-type Ca2+ channel α1G

K Talavera et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)