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  1. Pubblicazioni

ANNALS OF NEUROLOGY

Rivista
Codice:
E009444
ISSN:
0364-5134
  • Dati Generali

Dati Generali

Pubblicazioni (47)

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: UCHL1 is a Parkinson's disease susceptibility gene.
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A de novo LGl1 mutation in sporadic partial epilepsy with auditory features
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Activation of the motor cortex during phasic rapid eye movement sleep
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Age-related disability in multiple sclerosis.
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Association of early onset Alzeimer's disease with an interleukin 1 alpha gene polymorphism
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Atypical dementia associated with a novel presenilin-2 mutation.
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Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
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CEREBROSPINAL FLUID CONTENT OF DIAZEPAM BINDING INHIBITOR IN CHRONIC HEPATIC ENCEPHALOPATHY
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DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
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DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy
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DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset.
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DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset
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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy,
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FUS Gene Analysis in Amyotrophic Lateral Sclerosis Patients in South Italy
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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
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Functional correlates of pallidal stimulation for Parkinson's disease.
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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
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Gain of glycosylation: a new pathomechanism of myelin protein zero mutations
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Glucose metabolism and serotonin receptors in the frontotemporal lobe degeneration
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High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
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Impaired sequence learning in carries of the DYT1 dystonia mutation
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Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
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MRI detects acute degeneration of the nigrostriatal dopamine system after MPTP exposure in hemiparkinsonian monkeys
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Mesenchymal stem cells effectively modulate pathogenic immune response in experimental autoimmune encephalomyelitis.
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Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
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Multiple Sclerosis in Twins from Continental Italy and Sardinia: A Nationwide Study
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Murine succinate semialdehyde dehydrogenase deficiency
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Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy
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Myeloid microvesicles are a marker and therapeutic target for neuroinflammation
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Pesticide exposure might be a strong risk factor for Parkinson's disease.
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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
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Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.
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Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1
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Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism.
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SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
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SLC25A22 is a novel gene for migrating partial seizures in infancy
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Seeding variability of different alpha synuclein strains in synucleinopathies
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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
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Spinal Muscular Atrophy due to an Isolated deletion of Exon 8 of the Telomeric Survival Motor Neuron Gene
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Spinal muscolar atropy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene .
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The subacute levodopa test for evaluating long-duration response in Parkinson's disease.
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Using global team science to identify genetic parkinson's disease worldwide
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Very late onset in ataxia oculomotor apraxia type I.
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Vitamin E deficiency due to Chylomicron Retention Disease in Marinesco-Sjogren Syndrome
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Vitamin E deficiency due to chylomicron retention disease in Marinesco- Sjogren syndrome
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X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
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molecular probes for diagnosis ad genetic counseling of facioscapulohumeral Muscular Dystrophy
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