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JOURNAL OF THE NEUROLOGICAL SCIENCES
Rivista
Codice:
E094627
ISSN:
0022-510X
Dati Generali
Dati Generali
Pubblicazioni (74)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification
Articolo
A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis
Articolo
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness
Articolo
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
Articolo
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in anoctogenarian paucisymptomatic patient.
Articolo
AUTOSOMAL DOMINANT BROWN-VIALETTO-VAN LAERE SYNDROME WITH UBQLN1 MUTATION
Articolo
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation
Abstract
Advances in assessing myotonia: Can sensor-engineered glove have a role?
Articolo
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.
Articolo
Analysis of the TMEM230 gene in patients with multiple system atrophy
Articolo
Antioxidant and inflammatory biomarkers for the identification of prodromal Parkinson's disease
Articolo
Association study of two steroid biosynthesis genes (COMT and CYP17) with Alzheimer's disease in the Italian population
Articolo
Atypical clinical and radiological presentation of cryptococcal choroid plexitis in an immunocompetent woman
Articolo
Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation
Articolo
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings.
Articolo
Clinical relevance and molecular mechanisms of the skeletal muscle adaptation to aerobic training in mitochondrial myopathies
Articolo
Comparison of clinical and demographic features between affected pairs of Italian Multiple Sclerosis multiplex families; relation to tumour necrosis factor genomic polymorphisms
Articolo
Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability.
Articolo
DNA-REPAIR MECHANISMS IN NEUROLOGICAL DISEASES - FACTS AND HYPOTHESES
Articolo
Dementia is associated with insulin resistance in patients with Parkinson's disease
Articolo
Dopamine and adenosine receptor interaction as basis for the treatment of Parkinson's disease
Abstract
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice.
Articolo
Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop
Articolo
Essential tremor and cognitive functioning: A clinical and imaging study
Abstract
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments
Articolo
Expression and subcellular localization of FUS protein in fibroblasts of preclinical FUS P525L mutation carriers and patients with sporadic ALS
Abstract
Familial multiple sclerosis is not associated with eIF2B5 gene mutation in Southern Italy.
Abstract
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
Abstract
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
Articolo
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea
Articolo
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease
Abstract
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies
Articolo
Herpes simplex virus type 1 (hsv-1) infection as a risk factor for ad: possible role of neuroinflammation and oxidative stress
Abstract
High resolution proton MR spectroscopy of cerebrospinal fluid in MS patients. Comparison with biochemical changes in demyelinating plaques
Articolo
How can we restore cognitive deficits in patients with cerebellar damages?
Articolo
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2
Articolo
Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids
Articolo
LASER NEPHELOMETRIC EVALUATION OF ALBUMIN, IGG AND ALPHA(2)-MACROGLOBULIN - APPLICATIONS TO THE STUDY OF ALTERATIONS OF THE BLOOD-BRAIN-BARRIER
Articolo
Leukocyte telomere shortening in Huntington's disease.
Articolo
Linkage study in an Italian family with autosomal recessive spastic paraplegia
Abstract
Lymphocyte subsets in multiple sclerosis - A study with two-colour fluorescence analysis
Articolo
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation
Articolo
Mucuna pruriens for Parkinson's disease: Low-cost preparation method, laboratory measures and pharmacokinetics profile
Articolo
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy
Articolo
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
Articolo
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria.
Articolo
NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms.
Articolo
Neuropsychological assessment, quantitative MRI and ApoE gene polymorphismsin a series of MS patients treated with IFN beta-1b
Articolo
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
Articolo
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
Articolo
Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2
Articolo
Non-invasive brain stimulation for patients and healthy subjects: Current challenges and future perspectives
Articolo
Notch3 protein expression in skin fibroblasts from CADASIL patients
Articolo
Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia.
Articolo
Pragmatic abilities in multiple sclerosis: An RS-fMRI study
Abstract
Predictors of non-invasive ventilation tolerance in amyotrophic lateral sclerosis.
Articolo
Preliminary evidences of a NOS2A protective effect from relapsing-remitting multiple sclerosis.
Articolo
Prevalence of GLA gene mutations and polymorphisms in patients with multiple sclerosis: A cross-sectional study
Articolo
Relationship between clinical examination, quality of life, disability and depression in CMT patients: Italian multicenter study.
Articolo
Reply to
Articolo
Risk factors and outcome of subtypes of ischemic stroke. Data from a multicenter multinational hospital-based registry. The European Community Stroke Project.
Articolo
Risk of death over six months in users of conventional and atypical antipsychotic drugs
Abstract
SERUM AND CSF ANTI-GM1 ANTIBODIES IN PATIENTS WITH GUILLAIN-BARRE-SYNDROME AND CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY
Articolo
Selective risk factors profiles and outcomes among patients with stroke and history of prior myocardial infarction
Articolo
Severe breathlessness in Stiff person syndrome (SPS). Looking under the bonnet
Articolo
Somatosensory evoked potentials reflect the upper limb motor performance in multiple sclerosis.
Articolo
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Articolo
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Articolo
Spontaneous obliteration of MRI-silent cerebral angiomatosis revealed by CT angiography in a patient with Sturge-Weber syndrome.
Articolo
The effects of the COVID-19 pandemic and quarantine measures on the lifestyles and mental health of older adults at increased risk of dementia
Abstract
The novel radical scavenger IAC is effective in preventing and protecting against post-ischemic brain damage in Mongolian gerbils
Articolo
Tongue's motor evoked potentials in the diagnosis of Primary Lateral Sclerosis (PLS): Preliminary report.
Articolo
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: Characterization by MRI
Articolo
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI
Articolo
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