|
| 37399286 | Intronic <i>FGF14</i> GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. | J Neurol Neurosurg Psychiatry | 2024 |
| 37964426 | Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. | Mov Disord | 2024 |
| 37755460 | Update on leukodystrophies and developing trials. | J Neurol | 2024 |
| 37713627 | TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. | Brain | 2024 |
| 37951597 | Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. | Brain | 2024 |
| 38059386 | Central European Group on Genetics of Movement Disorders. | Eur J Neurol | 2024 |
| 38054570 | Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum. | Mov Disord | 2024 |
| 38054405 | Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. | Genet Med | 2024 |
| 37734926 | Leukoencephalopathy caused by a 17p13.3 microdeletion. | J Neurol Neurosurg Psychiatry | 2024 |
| 37772343 | Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts. | Eur J Neurol | 2024 |
| 34994246 | MRI and CT imaging biomarkers of cerebral amyloid angiopathy in lobar intracerebral hemorrhage. | Int J Stroke | 2023 |
| 37963460 | Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. | Am J Hum Genet | 2023 |
| 37633739 | ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview. | Brain Dev | 2023 |
| 37558808 | Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54. | Eur J Hum Genet | 2023 |
| 38076854 | The non-coding <i>GBA1</i> rs3115534 variant is associated with REM sleep behavior disorder in Nigerians. | medRxiv | 2023 |
| 37711075 | Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. | J Inherit Metab Dis | 2023 |
| 37486023 | Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor. | Ann Neurol | 2023 |
| 37705681 | Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. | Brain Commun | 2023 |
| 37553803 | Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. | Ann Clin Transl Neurol | 2023 |
| 37794925 | Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. | Brain Commun | 2023 |
| 37517035 | Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. | Brain | 2023 |
| 37516995 | Neuromuscular disease genetics in under-represented populations: increasing data diversity. | Brain | 2023 |
| 38002249 | Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges. | Biomolecules | 2023 |
| 37892228 | Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions. | Biomolecules | 2023 |
| 37510308 | Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders. | Genes (Basel) | 2023 |
| 37841069 | Genetic influences on disease course and severity, 30 years after a clinically isolated syndrome. | Brain Commun | 2023 |
| 37650884 | Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. | Genet Med | 2023 |
| 37986980 | NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations. | medRxiv | 2023 |
| 37646005 | Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. | Neurol Genet | 2023 |
| 37578488 | White matter abnormalities in 15 subjects with SPG76. | J Neurol | 2023 |
| 37578187 | Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. | Eur J Neurol | 2023 |
| 38031187 | Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. | Genome Med | 2023 |
| 37810464 | Repeat expansions in <i>NOP56</i> are a cause of spinocerebellar ataxia Type 36 in the British population. | Brain Commun | 2023 |
| 37565404 | Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family". | Mov Disord | 2023 |
| 37531792 | Associations of renal function with cerebral small vessel disease and functional outcome in acute intracerebral haemorrhage: A hospital-based prospective cohort study. | J Neurol Sci | 2023 |
| 37531237 | Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. | Hum Mol Genet | 2023 |
| 37461547 | POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS. | medRxiv | 2023 |
| 37425910 | Genome-wide association study identifies a new susceptibility locus in <i>PLA2G4C</i> for Multiple System Atrophy. | medRxiv | 2023 |
| 37425777 | A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus. | bioRxiv | 2023 |
| 37292658 | Endogenous recapitulation of Alzheimer's disease neuropathology through human 3D direct neuronal reprogramming. | bioRxiv | 2023 |
| 37222214 | Molecular basis of FAAH-OUT-associated human pain insensitivity. | Brain | 2023 |
| 36993627 | <i>MAPT</i> allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinson's disease risk and age at onset. | medRxiv | 2023 |
| 37459438 | SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. | Brain | 2023 |
| 37425748 | Microglia produce the amyloidogenic ABri peptide in familial British dementia. | bioRxiv | 2023 |
| 37425688 | Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. | medRxiv | 2023 |
| 37454282 | Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. | Genet Med | 2023 |
| 37186309 | Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family. | Int J Dev Neurosci | 2023 |
| 37119330 | AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. | Acta Neuropathol | 2023 |
| 37450567 | Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis. | Brain | 2023 |
| 37183190 | Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. | Hum Genet | 2023 |