Clinical Exome Sequencing for Cerebellar Ataxia and Spastic Paraplegia Uncovers Novel Gene–disease Associations and Unanticipated Rare Disorders

European Journal of Human Genetics - United Kingdom
doi 10.1038/ejhg.2016.42
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Correction: Targeted High Throughput Sequencing in Hereditary Ataxia and Spastic Paraplegia

PLoS ONE
Multidisciplinary
2017English

Hereditary Ataxia and Spastic Paraplegia in Portugal

JAMA Neurology
Neurology
2013English

Whole-Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer's Disease

Annals of Clinical and Translational Neurology
NeuroscienceNeurology
2019English

Spastic Paraparesis, Cerebellar Ataxia, and Intention Tremor: A Severe Variant of FXTAS?

Journal of Medical Genetics
Genetics
2005English

Autosomal Dominant Hereditary Spastic Paraplegia: Novel Mutations in the REEP1 Gene (SPG31)

BMC Medical Genetics
Genetics
2008English

Whole Exome Sequencing of Rare Variants in EIF4G1 and VPS35 in Parkinson Disease

Neurology
Neurology
2013English

Characterisation of Canine KCNIP4: A Novel Gene for Cerebellar Ataxia Identified by Whole-Genome Sequencing Two Affected Norwegian Buhund Dogs

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2020English

GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia

Journal of Neurology
Neurology
2014English

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial M-Aaa Proteases

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2011English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy