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NEUROLOGY

Rivista

Codice:

E117266

ISSN:

0028-3878

Dati Generali

Dati Generali

Pubblicazioni (216)

Ordina Pubblicazioni:

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decrescente

A 5-Year Prospective Assessment of Advanced Parkinson's Disease Patients Treated with Subcutaneous Apomorphine Infusion or Subthalamic Nucleus Deep Brain Stimulation

Abstract

A Widespread Cortical Thinning Characterizes MS Patients Having a Mild Cognitive Impairment.

Articolo

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers

Articolo

A meta-analysis of magnetic resonance spectroscopy in the diagnosis of hepatic encephalopathy

Articolo

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Articolo

A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation

Articolo

A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.

Articolo

A novel laminin α2 isoform in severe laminin α2 deficient congenital muscular dystrophy

Articolo

A novel missense adenine nucleotide translocator-1 gene mutation in a greek adPEO family

Articolo

ALS dysphagia pathophysiology: Differential botulinum toxin response

Articolo

ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

Articolo

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

Articolo

Abnormal Gyrification in Brain of early onset Myotonic Dystrophy patients

Articolo

Acquired stuttering and motor programming

Articolo

Acute myeloid leukemia in Italian patients with multiple sclerosis treated with mitoxantrone

Articolo

Age and sex prevalence estimate of Joubert syndrome in Italy.

Articolo

Amyloid pathology and axonal injury after brain trauma

Articolo

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

Articolo

Association of the Cervical Canal Area With Disability and Progression in People With Multiple Sclerosis

Articolo

Author response: Early hemodynamic predictors of good outcome and reperfusion injury after endovascular treatment

Articolo

Autosomal recessive Bethlem myopathy

Articolo

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations

Articolo

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

Articolo

Benign reversible muscle cytochrome c oxidase deficiency: A second case

Articolo

Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features.

Articolo

CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

Articolo

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy patients.

Articolo

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

Articolo

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

Articolo

Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

Articolo

Carnitine deficiency of skeletal muscle: Report of a treated case

Articolo

Carnitine deficiency, organic acidemias, and reye’s syndrome

Articolo

Carnitine-palmityltransferase deficiency: clinical variability, carrier detection and autosomal recessive inheritance.

Articolo

Central somatosensory and motor conduction time in amyotrophic lateral sclerosis (ALS).

Abstract

Cerebellar ataxia and coenzyme Q10 deficiency

Articolo

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

Articolo

Clinical and Neurophysiological Phenotypes in Neonates With BRAT1 Encephalopathy

Articolo

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Articolo

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Articolo

Clinical heterogeneity in Hyaline body myopathy

Contributo in Atti di convegno

Clinical heterogeneity in limb-girdle muscular dystrophy type 2I

Contributo in Atti di convegno

Cognitive and psychosocial features in childhood and juvenile MS Two-year follow-up

Articolo

Cognitive and psychosocial features of childhood and juvenile MS.

Articolo

Congenital muscular dystrophies with cognitive impairment A population study

Articolo

Congenital muscular dystrophies with defective glycosylation of dystroglycan: apopulation study

Articolo

Correlating phenotype and genotype in the periodic paralyses

Articolo

Cortical lesions in primary progressive multipla sclerosis: a two-year longitudinal MRI study.

Articolo

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

Articolo

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

Articolo

Development of Optimized Assays for Mitochondrial Respiratory Chain Enzymatic Activities in Muscle and Cells

Abstract

Diagnostic challenges in facioscapulohumeral muscular dystrophy

Articolo

Disentangling Neurodegeneration From Aging in Multiple Sclerosis Using Deep Learning

Articolo

Disopyramide-induced neuropathy

Articolo

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies

Articolo

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers

Articolo

Dopaminergic treatment and nonmotor features of Parkinson disease: The horse lives

Articolo

Driving impairment and crash risk in Parkinson disease: A systematic review and meta-analysis

Articolo

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

Articolo

Dystrophinopathy in isolated cases of myopathy in females

Articolo

Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes

Articolo

Effect of Immunomodulatory Agents (IMAs) on Cortical Inflammatory Lesions (CLs) in Patients with Relapsing-Remitting Multiple Sclerosis (RRMS): A 2-Year Longitudinal Comparison Study

Abstract

Electrophysiological, neuro-hormonal and neuropsychological response to immunotherapy in a case of atypical Morvan syndrome with limbic seizures

Abstract

Enormous dystrophin in a patient with becker muscular dystrophy

Articolo

Epileptic phenotypes associated with mitochondrial disorders

Articolo

Evaluation of LRRK2 G2019S penetrance - Relevance for genetic counseling in Parkinson disease

Articolo

Exercise-induced recurrent myoglobinuria: Defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients

Articolo

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Articolo

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.

Articolo

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation

Articolo

Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence.

Articolo

Fatal infantile cytochrome c oxidase deficiency: Decrease of immunologically detectable enzyme in muscle

Articolo

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

Articolo

Friedreich’s disease: V. Variant form with vitamin E deficiency and normal fat absorption

Articolo

Fumarase deficiency is an autosornal recessive encephalopathy ffecting both the mitochondrial and the cytosolic enzymes

Articolo

Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy

Articolo

Functional changes in Duchenne muscular dystrophy A 12-month longitudinal cohort study

Articolo

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

Articolo

Gene expression profile of cerebrospinal fluid mononuclear cells in oligoclonal band positive and oligoclonal band negative multiple sclerosis patients at early stage of disease

Contributo in Atti di convegno

Gene expression profiling identifies RNA regulation defects in Amyotrophic lateral sclerosis muscle

Contributo in Atti di convegno

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.

Articolo

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

Articolo

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Articolo

Hemangioblastoma of the obex mimicking anorexia nervosa.

Articolo

High-grade carotid stenosis detected before general surgery: Is endarterectomy indicated?

Articolo

How effective is BCNU in recurrent glioblastoma in the modern era? A phase II trial

Articolo

Hydrocarbon exposure and Parkinson's disease

Articolo

Hypophonia in Parkinson's disease: Neural correlates of voice treatment revealed by PET

Articolo

Imaging distribution and frequency of cortical lesions in patients with multiple sclerosis

Articolo

Immunotheray-reversed compulsive, monoaminergic, circadian rhthm disorder in Morvan Syndrome

Articolo

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.

Articolo

Improved diagnosis of becker muscular dystrophy by dystrophin testing

Articolo

Improving left hemispatial neglect using virtual reality

Articolo

Increased Expression of the Endocannabinoid Receptor 1 in Acute Human Stroke

Abstract

Increased risk of epilepsy in biopsy-verified celiac disease A population-based cohort study

Articolo

Increased risk of epilepsy in biopsy-verified celiac disease: a population-based cohort study.

Articolo

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

Articolo

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition

Articolo

Integrin alpha 7beta1 in muscular dystrophy/myopathy of unknown etiology

Abstract

Interferon beta-1b-neutralizing antibodies 5 years after clinically isolated syndrome

Articolo

Interferon β-1b-neutralizing antibodies 5 years after clinically isolated syndrome.

Articolo

Intracortical lesions Relevance for new MRI diagnostic criteria for multiple sclerosis

Articolo

Is protracted low-dose temozolomide feasible in glioma patients?

Articolo

Jargonaphasia - How Many Entities

Abstract

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

Articolo

LGI1 microdeletion in autosomal dominant lateral temporal epilepsy.

Articolo

LMNA-associated myopathies: the Italian experience in a large cohort of patients

Articolo

Laminin alpha 2 muscular dystrophy: genotype/phenotype study in 22 patients

Articolo

Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

Articolo

Lenalidomide long-term neurotoxicity: clinical and neurophysiological prospective study.

Articolo

Lithium carbonate in amyotrophic lateral sclerosis Lack of efficacy in a dose-finding trial

Articolo

Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant

Articolo

Long-term effect of rituximab in anti-mag polyneuropathy

Articolo

MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission

Articolo

MINI mental multiple sclerosis examination (MINIMUS): neuropsychological screening for MS patients.

Abstract

Magnetic Resonance Evidence of the Involvement of the Striatal-Thalamic-Frontal Cortex System in Determining Fatigue in Multiple Sclerosis

Abstract

Mesiobasal versus lateral temporal lobe epilepsy: Metabolic differences in the temporal lobe shown by interictal 18F-FDG positron emission tomography

Articolo

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA

Articolo

Mitochondrial Respiratory Chain Enzymatic Activities and UCP3 Expression in Muscles of Patients with Hereditary and Sporadic Amyotrophic Lateral Sclerosis

Abstract

Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency

Articolo

Molecular diagnosis yield is higher in severe than in milder LGMD phenotypes.

Articolo

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.

Articolo

Multifocal neurological involvement as the only manifestation of IgG4-related disease.

Articolo

Multimodality evoked potentials in subarachnoidal hemorrhage. Neurology

Abstract

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

Articolo

Muscle fiber regeneration in Dystrophies and Neurogenic Atrophies.

Abstract

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Articolo

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: Studies with malonyl-CoA suggest absence of only CPT-II

Articolo

Myosin light chains and muscle pathology

Articolo

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.

Articolo

NDUFA-1 is not a nuclear modifier gene in leber hereditary optic neuropathy

Articolo

NMDA receptor antagonists and pain relief: A meta-analysis of experimental trials

Articolo

Nerve Growth-Factor production by Lymphocytes

Abstract

Nerve Ultrasound and 3D-MR Neurography suggestive of intraneural Perineurioma.

Articolo

Neural substrate of cognitive control: A rTMS study.

Abstract

Neurosonographic monitoring of 105 spontaneous cervical artery dissections: a prospective study.

Articolo

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

Articolo

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1)

Articolo

No MRI evidence of cortical lesions in neuromyelitis optica

Articolo

No evidence of beneficial effects of plasmapheresis in natalizumab-associated PML

Articolo

Novel (ovario) leukodystrophy related to AARS2 mutations

Articolo

Novel sarcoglycan mutations widen the clinical spectrum of limb girdle muscular dystrophy 2C, 2D, 2E, 2F

Abstract

Organophosphate polyneuropathy: pathogenesis and prevention.

Articolo

POLG1 in idiopathic Parkinson disease

Articolo

Parkinson's disease and parkinsonism in a longitudinal study

Articolo

Parkinson's disease and parkinsonism in a longitudinal study: two-fold higher incidence in men. ILSA Working Group. Italian Longitudinal Study on Aging.

Articolo

Pattern of X-chromosome inactivation as a key determinant of the clinicopathologic phenotype of Duchenne muscular dystrophy carriers

Articolo

Peripheral neurotoxicity of pegylated interferon alpha: A prospective study in patients with HCV - Reply

Articolo

Peripheral neurotoxicity of pegylated interferon alpha: a prospective study in patients with HCV.

Articolo

Periventricular Heterotopia in Fragile X Syndrome

Articolo

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Articolo

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.

Articolo

Physical and mental perception of quality of life in patients with myotonic dystrophies: Correlation between objective and functional measures of muscle disability, cognitive, behavioral and educational aspects

Articolo

Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy.

Articolo

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy.

Articolo

Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

Articolo

Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Articolo

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

Articolo

Pregnancy decision-making in women with multiple sclerosis treated with natalizumab I: Fetal risks

Articolo

Pregnancy decision-making in women with multiple sclerosis treated with natalizumab: II: Maternal risks

Articolo

Preoperative and postoperative glucose consumption in mesiobasal and lateral temporal lobe epilepsy

Articolo

Preoperative indicators of clinical outcome following stereotaxic pallidotomy

Articolo

Prevalence and clinical characteristics of postictal psychiatric symptoms in partial epilepsy

Articolo

Prevalence and clinical characteristics of postictal psychiatric symptoms in partial epilepsy [3] (multiple letters)

Articolo

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Articolo

Prevalence of congenital muscular dystrophy in Italy: A population study

Articolo

Prognostic importance of the extent of resection in IDH-wild type grade II astrocytomas according to EGFR amplification and pTERT mutation

Abstract

Progressive multiple sclerosis is not associated with chronic cerebrospinal venous insufficiency

Articolo

Prospective Evaluation of Health Care Provider and Patient Assessments in Chemotherapy Induced Peripheral Neurotoxicity

Articolo

Reader Response: Effect of Levetiracetam Use Duration on Overall Survival of Isocitrate Dehydrogenase Wild-Type Glioblastoma in Adults: An Observational Study

Articolo

Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II

Contributo in Atti di convegno

Reduced striatal dopamine receptors in Alzheimer's disease: single photon emission tomography study with the D2 tracer [123I]-IBZM.

Articolo

Respiratory chain and mitochondrial DNA in muscle and brain in parkinson's disease patients

Articolo

Right-To-Left shunt does not increase white matter lesion load in migraine with aura patients

Articolo

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Articolo

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment

Articolo

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

Articolo

Selective Impairment In Localizing Body Parts - A Case-report

Articolo

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.

Articolo

Severe relapses under fingolimod treatment prescribed after natalizumab.

Articolo

Slow myosin heavy chain isozyme in nemaline myopathy.

Articolo

Spectrum of paraneoplastic disease associated with lymphoma.

Articolo

Spinal subtraction MRI for diagnosis of epidural leakage in SIH

Articolo

Spontaneous ARIA-like Events in Cerebral Amyloid Angiopathy-Related Inflammation: A Multicenter Prospective Longitudinal Cohort Study

Articolo

Striatal dopamine D2 receptors in patients with narcolepsy measured with PET and 11C-raclopride

Articolo

Striatal dopamine D2 receptors in patients with narcolepsy measured with PET and 11C-raclopride

Articolo

Stroke patients: Results of robotic therapy on motor impairment

Abstract

Successful botulinum toxin treatment for cricopharyngeal dysfunction in Parkinson's disease.

Abstract

Teaching NeuroImages: Progressive asymmetric parkinsonism and tendon xanthomas

Articolo

Thalidomide neurotoxicity: prospective study in patients with lupus erythematosus

Articolo

Thalidomide sensory neurotoxicity: a clinical and neurophysiolgical study

Articolo

The HLA-DR13 aplotype is associated with benign multiple sclerosis in North-east Italy

Articolo

The clinical spectrum of CASQ1-related myopathy

Articolo

The clinical spectrum of sarcoglycanopathies

Articolo

The concept of muscular dystrophy in Europe before and after 19th century

Articolo

The cortical damage, early relapses, and onset of the progressive phase in multiple sclerosis

Articolo

The genetic basis of undiagnosed muscular dystrophies and myopathies

Articolo

The incidence and significance of anti-natalizumab antibodies. Results from the AFFIRM and SENTINEL .

Articolo

The metabolic anatomy of Tourette's syndrome

Articolo

The metabolic anatomy of tremor in Parkinson's disease

Articolo

The metabolic topography of essential blepharospasm: A focal dystonia with general implications

Articolo

The predictive value of gray matter atrophy in clinically isolated syndromes

Articolo

Title: Plasticity after obstetrical brachial plexus palsy: A transcranial magnetic stimulation study

Abstract

Transmission ratio distortion in the spinal muscular atrophy locus - Data from 314 prenatal tests

Articolo

Transthyretin: A choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell Award

Articolo

Treatment with d–penicillamine improves dopamine D2-receptor binding and T2 signal intensity in de novo wilson's disease

Articolo

Treatment with interferon beta-1b delays conversion to clinically definite and McDonald MS in patients with clinically isolated syndromes.

Articolo

Vascular risk factors, incidence of MCI, and rates of progression to dementia

Articolo

Vitamin D deficiency predicts cognitive decline in older men and women: The Pro.V.A. Study

Articolo

Volumetric MRI differences in treatment-naive vs chronically treated children with ADHD (vol 67, pg 1023, 2006)

Articolo

Volumetric MRI differences in treatment-naïve vs chronically treated children with ADHD

Articolo

Widespread cortical thinning characterizes patients with MS with mild cognitive impairment

Articolo

[11C](R)-PK11195 PET imaging of microglial activation in multiple system atrophy.

Articolo

[11C]raclopride and positron emission tomography in previously untreated patients with Parkinson’s disease: Influence of L-dopa and lisuride therapy on striatal dopamine D2-receptors

Articolo

[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene

Articolo

[An] enumeration shall be made..

Articolo

[An] enumeration shall be made..

Articolo

No Results Found

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