Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Rowdy Meijer
Clinical Exome Sequencing for Cerebellar Ataxia and Spastic Paraplegia Uncovers Novel Gene–disease Associations and Unanticipated Rare Disorders
European Journal of Human Genetics
Genetics
Related publications
Correction: Targeted High Throughput Sequencing in Hereditary Ataxia and Spastic Paraplegia
PLoS ONE
Multidisciplinary
Hereditary Ataxia and Spastic Paraplegia in Portugal
JAMA Neurology
Neurology
Whole-Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer's Disease
Annals of Clinical and Translational Neurology
Neuroscience
Neurology
Spastic Paraparesis, Cerebellar Ataxia, and Intention Tremor: A Severe Variant of FXTAS?
Journal of Medical Genetics
Genetics
Autosomal Dominant Hereditary Spastic Paraplegia: Novel Mutations in the REEP1 Gene (SPG31)
BMC Medical Genetics
Genetics
Whole Exome Sequencing of Rare Variants in EIF4G1 and VPS35 in Parkinson Disease
Neurology
Neurology
Characterisation of Canine KCNIP4: A Novel Gene for Cerebellar Ataxia Identified by Whole-Genome Sequencing Two Affected Norwegian Buhund Dogs
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia
Journal of Neurology
Neurology
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial M-Aaa Proteases
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior