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Publications by Michèl AAP Willemsen

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

European Journal of Human Genetics

English

Related publications

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

English

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

Journal of Medical Genetics

English

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

English

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

Molecular Biology

Cancer Research

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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

English

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

Molecular Biology

Cancer Research

English