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  1. Pubblicazioni

BRAIN

Rivista
Codice:
E024689
ISSN:
0006-8950
  • Dati Generali

Dati Generali

Pubblicazioni (71)

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
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A new familial disease of saccadic oscillations and limb tremor provides clues to mechanisms of common tremor disorders.
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A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
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ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
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Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
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Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy
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An abnormal periventricular magnetization transfer ratio gradient occurs early in multiple sclerosis
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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
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Arousal responses to noxious stimuli in somatoparaphrenia and anosognosia: clues to body awareness.
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Autism, Asperger syndrome and brain mechanisms for the attribution of mental states to animated shapes.
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Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy
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Better without (lateral) frontal cortex? Insight problems solved by frontal patients
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
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Brain microstructural and metabolic alterations detected in vivo at onset of the first demyelinating event
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CEREBRAL REPRESENTATIONS FOR EGOCENTRIC SPACE: FUNCTIONAL-ANATOMICAL EVIDENCE FROM CALORIC VESTIBULAR STIMULATION AND NECK VIBRATION
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CHD2 variants are a risk factor for photosensitivity in epilepsy
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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
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Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study.
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Corrigendum to: A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
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Cortical involvement determines impairment 30 years after a clinically isolated syndrome
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Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
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Disorders of binocular control of eye movements in patients with cerebellar dysfunction.
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Disorders of cognitive and affective development in cerebellar malformations
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Dissecting out migraine complexity through comprehensive analysis of allodynia
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Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?
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Dopaminergic imaging and clinical predictors for phenoconversion of REM sleep behaviour disorder
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Equilibrium during static and dynamic tasks in blindsubjects: no evidence of cross-modal plasticity
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Erratum: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement (Brain (2021) 144:4 (1197-1213) DOI: 10.1093/brain/awab019)
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Erratum: Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia (Brain (2021) 144:3 (909-923) DOI: 10.1093/brain/awaa465)
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Evidence for early neurodegeneration in the cervical cord of patients with primary progressive multiple sclerosis
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Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia
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Exploring somatosensory hemineglect by vestibular stimulation
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Free and supported stance in parkinson's disease: The EFFECT of POSTURE and 'postural set' ON leg MUSCLE responses TO perturbation, AND its RELATION to THE severity OF the disease
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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
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Grey Matter Leonardo da Vinci: A genius driven to distraction
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Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine
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Intramodal somaesthetic recognition disorders following right and left hemisphere damage
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Investigation of magnetization transfer ratio-derived pial and subpial abnormalities in the multiple sclerosis spinal cord.
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Longitudinal evidence for anterograde trans-synaptic degeneration after optic neuritis
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Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism
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Motor learning and metaplasticity in striatal neurons: relevance for Parkinson’s disease
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Neck proprioception and spatial orientation in cervical dystonia.
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Non-multiple sclerosis recurrent demyelinating disorders: an ongoing debate.
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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
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Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis
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On the mechanisms underlying hypoxia-induced membrane depolarization in striatal neurons
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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
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Post-ischaemic long-term synaptic potentiation in the striatum: a putative mechanism for cell type-specific vulnerability
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Progression of clinical markers in prodromal Parkinson’s disease and dementia with Lewy bodies: a multicentre study
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Progression of regional grey matter atrophy in multiple sclerosis
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Quantitative magnetic resonance imaging towards clinical application in multiple sclerosis
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RFC1 expansions are a common cause of idiopathic sensory neuropathy
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Responses of leg muscles in humans displaced while standing: effects of types of perturbation and of postural set.
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Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: A multicentre study
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
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SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington's disease phenotypes
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Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players
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Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation
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Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia
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Striatal metabotropic glutamate receptor function following experimental parkinsonism and chronic levodopa treatment
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The impact of extensive medial frontal lobe damage on 'Theory of Mind' and cognition
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The multiple faces of TOR1A: Different inheritance, different phenotype
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The role of DYT1 in primary torsion dystonia in Europe
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The role of the right hemisphere in the interpretation of figurative aspects of language a positron emission tomography activation study
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What clinical disorders tell us about the neural control of saccadic eye movements
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What’s left to explain and what’s right to conclude about the neurocognition of deductive reasoning?
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White matter involvement in sporadic Creutzfeldt-Jakob disease.
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
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