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Publications by Susanne T de Bot

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

European Journal of Human Genetics

English

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

Multidisciplinary

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Hereditary Ataxia and Spastic Paraplegia in Portugal

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

Annals of Clinical and Translational Neurology

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

Journal of Medical Genetics

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

BMC Medical Genetics

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

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

Molecular Biology

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

Journal of Neurology

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

Molecular Biology

Cancer Research

English