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Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.

Journal article

Vilema-Enríquez G. et al, (2020), J Biol Chem, 295, 17973 - 17985

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.

Journal article

Kim CY. et al, (2020), Ann Neurol, 88, 1028 - 1033

Reply to "PPP2R5D genetic mutations and early-onset parkinsonism".

Journal article

Kim CY. et al, (2020), Ann Neurol

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Journal article

Shah M. et al, (2020), Ophthalmic Genet, 41, 331 - 337

Whole-genome sequencing of patients with rare diseases in a national health system.

Journal article

Turro E. et al, (2020), Nature, 583, 96 - 102

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Journal article

Shah M. et al, (2020), JAMA Ophthalmol, 138, 544 - 551

Genetic testing in Neurology

Journal article

Lefroy H. et al, (2020), Medicine (United Kingdom)

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Journal article

Aitken S. et al, (2019), Am J Hum Genet, 105, 933 - 946

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Journal article

Brandsma R. et al, (2019), Eur J Paediatr Neurol, 23, 692 - 706

Evaluation of next generation sequencing panels in adult-onset hereditary neurological disorders

Conference paper

Scaber J. et al, (2019), EUROPEAN JOURNAL OF NEUROLOGY, 26, 334 - 334

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Journal article

O'Donnell-Luria AH. et al, (2019), Am J Hum Genet, 104, 1210 - 1222

Germline selection shapes human mitochondrial DNA diversity.

Journal article

Wei W. et al, (2019), Science, 364

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Journal article

Gorman KM. et al, (2019), Am J Hum Genet, 104, 948 - 956

Clinical application of next-generation sequencing to the practice of neurology.

Journal article

Rexach J. et al, (2019), Lancet Neurol, 18, 492 - 503

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