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Search results (157)

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Dominik N. et al, (2023), Brain, 146, 5060 - 5069

Subthalamic nucleus shows opposite functional connectivity pattern in Huntington’s and Parkinson’s disease

Evangelisti S. et al, (2023), Brain Communications, 5

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.

Steel DBD. et al, (2023), Neurology, 100, e2214 - e2223

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.

Magrinelli F. et al, (2023), Mov Disord, 38, 347 - 353

Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.

Lam T. et al, (2023), Brain Commun, 5

Highlighting the Dystonic Phenotype Related to GNAO1.

Wirth T. et al, (2022), Mov Disord, 37, 1547 - 1554

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

Patel CK. et al, (2022), Ophthalmic Genet, 43, 201 - 209

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.

Rajan DS. et al, (2022), Front Cell Dev Biol, 10

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Bott LC. et al, (2021), Brain Communications, 3

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Kour S. et al, (2021), Nat Commun, 12

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Pagnamenta AT. et al, (2021), Brain, 144, 584 - 600

Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".

Kim CY. et al, (2021), Ann Neurol, 89, 195 - 196

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Bott L. et al, (2021)

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

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

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

Vilema-Enríquez G. et al, (2020), The Journal of biological chemistry, 295, 17973 - 17985

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