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Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohortsX-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationMotor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergamesSensorimotor recalibration depends on attribution of sensory prediction errors to internal causesThe experience of agency: an interplay between prediction and postdictionThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.I move, therefore I am: a new theoretical framework to investigate agency and ownership.The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationPure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifierFriedreich ataxia: dysarthria profile and clinical data.Association between vestibulo-ocular reflex suppression, balance, gait, and fall risk in ageing and neurodegenerative disease: protocol of a one-year prospective follow-up study.The FARSEEING real-world fall repository: a large-scale collaborative database to collect and share sensor signals from real-world falls.Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration.How physicians allocate scarce resources at the bedside: a systematic review of qualitative studies.Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degenerationAP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegiaAbsence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationDe novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathyFirst de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyAtypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS PatientsMutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val MutationS100B is increased in Parkinson's disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-α pathway.Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.Beyond the comparator model: a multifactorial two-step account of agency.Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening toolsRare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.Stimulating personality: ethical criteria for deep brain stimulation in psychiatric patients and for enhancement purposes.PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.Brain activation in frontotemporal and Alzheimer's dementia: a functional near-infrared spectroscopy studySTUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Towards a common framework of grounded action cognition: Relating motor control, perception and cognition.Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment.
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