|
| 36640220 | Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. | Cerebellum | 2024 |
| 37117990 | Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. | Cerebellum | 2024 |
| 36792598 | Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. | Nat Commun | 2023 |
| 37650884 | Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. | Genet Med | 2023 |
| 37450567 | Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis. | Brain | 2023 |
| 37041080 | Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic Variants. | Neurology | 2023 |
| 37333224 | Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders. | bioRxiv | 2023 |
| 36433650 | Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers. | Mov Disord | 2023 |
| 36420574 | Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder. | Mov Disord | 2023 |
| 33963046 | Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation. | J Med Genet | 2022 |
| 35722775 | Highlighting the Dystonic Phenotype Related to GNAO1. | Mov Disord | 2022 |
| 36192182 | The Phenotypic Continuum of <i>ATP1A3</i>-Related Disorders. | Neurology | 2022 |
| 35295849 | Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>. | Front Cell Dev Biol | 2022 |
| 34751625 | Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis. | Ophthalmic Genet | 2022 |
| 33098324 | Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism". | Ann Neurol | 2021 |
| 33836713 | Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report. | BMC Ophthalmol | 2021 |
| 34909687 | Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. | Brain Commun | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 33963192 | Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. | Nat Commun | 2021 |
| 34177436 | Neuroimaging Findings in Patients with <i>EBF3</i> Mutations: Report of Two Cases. | Mol Syndromol | 2021 |
| 32543920 | Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases. | Ophthalmic Genet | 2020 |
| 33028632 | Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells. | J Biol Chem | 2020 |
| 32743835 | Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. | Ann Neurol | 2020 |
| 32239196 | Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations. | JAMA Ophthalmol | 2020 |
| 30615140 | Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. | Hum Mol Genet | 2019 |
| 31345272 | Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series. | Genome Med | 2019 |
| 30981321 | Clinical application of next-generation sequencing to the practice of neurology. | Lancet Neurol | 2019 |
| 30890781 | A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice. | Eur J Hum Genet | 2019 |
| 29705557 | Alterations in the metabolic and cardiorespiratory response to exercise in Huntington's Disease. | Parkinsonism Relat Disord | 2018 |
| 29891078 | Recessive ataxias. | Handb Clin Neurol | 2018 |
| 30249303 | Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. | Acta Neuropathol Commun | 2018 |
| 30346491 | Dysfunctional effort-based decision-making underlies apathy in genetic cerebral small vessel disease. | Brain | 2018 |
| 29712974 | Author Correction: Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6. | Sci Rep | 2018 |
| 28017370 | De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. | Am J Hum Genet | 2017 |
| 28985497 | Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. | Am J Hum Genet | 2017 |
| 29100096 | Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. | Am J Hum Genet | 2017 |
| 28886343 | Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. | Am J Hum Genet | 2017 |
| 28729369 | Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA<sup>Lys</sup> (m.8340G>A) gene variant. | Br J Ophthalmol | 2017 |
| 28539669 | Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6. | Sci Rep | 2017 |
| 27108798 | A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. | Am J Hum Genet | 2016 |
| 30838261 | Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa. | Mov Disord Clin Pract | 2016 |
| 26297558 | ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. | Brain | 2016 |
| 27618137 | Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation. | Neuromuscul Disord | 2016 |
| 26872967 | Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. | Ophthalmology | 2016 |
| 25142278 | Exercise testing and training in people with Huntington's disease. | Clin Rehabil | 2015 |
| 26168012 | Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. | Nat Genet | 2015 |
| 25972378 | Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. | Hum Mol Genet | 2015 |
| 25985138 | Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. | Nat Genet | 2015 |
| 25981959 | De novo point mutations in patients diagnosed with ataxic cerebral palsy. | Brain | 2015 |
| 25681447 | SPG7 mutations are a common cause of undiagnosed ataxia. | Neurology | 2015 |