Genomic analysis identifies masqueraders of full-term cerebral palsy
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genomic analysis identifies masqueraders of full-term cerebral palsy
Authors
Keywords
-
Journal
Annals of Clinical and Translational Neurology
Volume 5, Issue 5, Pages 538-551
Publisher
Wiley
Online
2018-03-26
DOI
10.1002/acn3.551
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Human genetic variation database, a reference database of genetic variations in the Japanese population
- (2016) Koichiro Higasa et al. JOURNAL OF HUMAN GENETICS
- STXBP1encephalopathy
- (2016) Hannah Stamberger et al. NEUROLOGY
- An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron
- (2016) Yu Miyazaki et al. Science Translational Medicine
- Cerebral palsy: causes, pathways, and the role of genetic variants
- (2015) Alastair H. MacLennan et al. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
- De novopoint mutations in patients diagnosed with ataxic cerebral palsy
- (2015) Ricardo Parolin Schnekenberg et al. BRAIN
- Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
- (2015) Hirotomo Saitsu et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Assessment of Abilities and Comorbidities in Children With Cerebral Palsy
- (2015) Lidia V. Gabis et al. JOURNAL OF CHILD NEUROLOGY
- Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation
- (2015) Neil Kulkarni et al. JOURNAL OF CHILD NEUROLOGY
- Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
- (2015) G McMichael et al. MOLECULAR PSYCHIATRY
- Copy number variations in cryptogenic cerebral palsy
- (2015) R. Segel et al. NEUROLOGY
- SCN2Aencephalopathy
- (2015) Katherine B. Howell et al. NEUROLOGY
- Clinically relevant copy number variations detected in cerebral palsy
- (2015) Maryam Oskoui et al. Nature Communications
- Clinical whole exome sequencing in child neurology practice
- (2014) Siddharth Srivastava et al. ANNALS OF NEUROLOGY
- Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways
- (2014) Ana P M Canton et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
- (2014) Temistocle Lo Giudice et al. EXPERIMENTAL NEUROLOGY
- De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
- (2014) Alma Kuechler et al. HUMAN GENETICS
- Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
- (2014) Nuria García Segarra et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A Diagnostic Approach for Cerebral Palsy in the Genomic Era
- (2014) Ryan W. Lee et al. NEUROMOLECULAR MEDICINE
- Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants
- (2014) Maiko Narahara et al. PLoS One
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- (2014) G. Novarino et al. SCIENCE
- AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
- (2013) Naiara Akizu et al. CELL
- An update on the prevalence of cerebral palsy: a systematic review and meta-analysis
- (2013) Maryam Oskoui et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia
- (2012) YURIKA NUMATA et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Developing and validating the Communication Function Classification System for individuals with cerebral palsy
- (2011) MARY JO COOLEY HIDECKER et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements
- (2010) Mark Braschinsky et al. BMC Neurology
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
- (2010) Gregory M Cooper et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Content validity of the expanded and revised Gross Motor Function Classification System
- (2009) Robert J Palisano et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started