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  1. Pubblicazioni

MOVEMENT DISORDERS

Rivista
Codice:
E113628
ISSN:
0885-3185
  • Dati Generali

Dati Generali

Pubblicazioni (133)

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A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia
Articolo
A novel family with an unusual early-onset generalized dystonia
Articolo
A novel genetic prediction score in myoclonus-dystonia
Abstract
Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases
Articolo
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases.
Articolo
Agrypnia with nocturnal confusional behaviors in dementia with lewy bodies: immediate efficacy of rivastigmine
Articolo
Alpha-Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction
Articolo
Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees
Articolo
Alternate Trains of Postural Muscle Vibration Promote Cyclic Body Displacement in Standing Parkinsonian Patients.
Articolo
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus dystonia: Evidence for genetic heterogeneity
Abstract
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity
Articolo
Analysis of video-polysomnographic sleep findings in dementia with Lewy bodies
Articolo
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
Articolo
Association between the Amplification Parameters of the α‐Synuclein Seed Amplification Assay and Clinical and Genetic Subtypes of Parkinson's Disease
Articolo
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
Articolo
Balance in Parkinson's disease under static and dynamic conditions
Articolo
Botulinum toxin and neuromotor rehabilitation: An integrated approach to idiopathic cervical dystonia.
Articolo
Botulinum toxin and neuromotor rehabilitation: An integrated approach to idiopathic cervical dystonia.
Articolo
Botulinum toxin and neuromotor rehabilitation: An intergrated approach to idiopathic cervical dystonia
Articolo
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia
Abstract
Clinical and Dopamine Transporter Imaging Trajectories in a Cohort of Parkinson's Disease Patients with GBA Mutations
Articolo
Clinical and Molecular Aspects of PINK1-Related Parkinsonism
Abstract
Clinical and molecular aspects of PINK1-related parkinsonism
Abstract
Clinical genetics of primary blepharospasm
Abstract
Complex paroxysmal nocturnal behaviors in Parkinson's disease
Articolo
Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease
Articolo
Contribution of Nutritional, Lifestyle, and Metabolic Risk Factors to Parkinson's Disease
Articolo
Copper deficiency in Wilson's disease: Peripheral neuropathy and myelodysplastic syndrome complicating zinc treatment
Articolo
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition
Abstract
DYT2 screening in early-onset isolated dystonia in Italy
Abstract
Deep brain stimulation in Myoclonus-dystonia syndrome
Articolo
Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria
Articolo
Defining the phenotypic signature of SGCE mutations in myoclonus-dystonia patients
Abstract
Diagnostic and Prognostic Value of External Anal Sphincter EMG Patterns in Multiple System Atrophy
Articolo
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions
Articolo
Dopamine drives binge‐like consumption of a palatable food in experimental Parkinsonism
Articolo
Dynamic changes of anandamide in the cerebrospinal fluid of Parkinson's disease patients
Articolo
Early synaptic dysfunction in Parkinson's disease: Insights from animal models
Articolo
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Articolo
Engineering animal models of dystonia
Articolo
Enhanced mu opioid receptor–dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia
Articolo
European SARA age validation trial in children -Preliminary results-
Abstract
European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Abstract
Evaluation of the genetic contribution of Omi/HtrA2 to Parkinson's disease in an international collaborative study
Abstract
Facilitated temporal summation of pain at spinal level in Parkinson's disease
Articolo
Facilitated temporal summation of pain at spinal level in Parkinson's disease
Articolo
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
Articolo
Fluoxetine-induced movement disorders and deficient CYP2D6 enzyme activity.
Articolo
Four-week trunk-specific rehabilitation treatment improves lateral trunk flexion in Parkinson's disease
Articolo
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
Articolo
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase
Articolo
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
Articolo
GIGYF2 Variants Are Not Associated with Parkinson's Disease in Italy
Articolo
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
Articolo
Genetic susceptibility in cervical dystonia: confirmation of a role for the dopamine D5 receptor gene
Abstract
Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?
Articolo
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine
Articolo
Hemiparkinsonism-hemiatrophy with brain hemihypoplasia.
Articolo
Homeostatic changes of the endocannabinoid system in Parkinson's disease
Articolo
Homozygous 1311G > A PINK1 mutation in a patient with Parkinson disease, psychiatric disorder, and apparently dominant transmission
Abstract
Idiopathic Non-Task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia
Articolo
Impaired Mitochondrial Respiration in REM-Sleep Behavior Disorder: A Biomarker of Parkinson's Disease?
Articolo
Influence of the DYT1 gene polymorphism rs1182 on the risk of spread in patients with primary blepharospasm
Abstract
Intermittent theta‐burst stimulation rescues dopamine‐dependent corticostriatal synaptic plasticity and motor behavior in experimental parkinsonism: Possible role of glial activity
Articolo
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
Articolo
Italian family with cranial cervical dystonia: Clinical and genetic study
Articolo
KMT2B: A new twist in dystonia genetics
Articolo
LRP10: A novel disease gene bridging Parkinson's disease and dementia with Lewy body
Articolo
Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients
Articolo
Lack of trigemino-cervical reflexes in progressive supranuclear palsy
Articolo
Lack of trigemino-cervical reflexes in progressive supranuclear palsy.
Articolo
Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study
Articolo
Mental rotation of body parts in DYT1 carriers
Abstract
Mild mitochondrial impairment promotes corticostriatal synaptic plasticity alterations in PINK1 heterozygous knockout mice
Abstract
Monitoring late complications of zinc treatment in Wilson's disease. Reply to the letter: Copper deficiency in Wilson's disease: An avoidable complication of treatment: Monitoring Late Complications of Zinc Treatment in Wilson's Disease
Articolo
Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements
Articolo
Muscle relaxation in Parkinson's disease
Articolo
Mutation Screening of the DYT6/THAP1 Gene in Italy
Articolo
Mutations in TMEM230 are not a common cause of Parkinson's disease
Articolo
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
Articolo
Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia
Articolo
Novel parkin mutations detected in patients with early-onset Parkinson's disease
Articolo
Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations
Articolo
Olfactory function in parkinsonism caused by PINK1 mutations
Abstract
Opioid binding in DYT1 primary torsion dystonia: An C-11-diprenorphine PET Study
Articolo
PINK1 Heterozygous Mutations Induce Subtle Alterations in Dopamine-Dependent Synaptic Plasticity
Articolo
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism
Articolo
PRRT2 gene mutations in a large family with paroxysmal kinesigenic dyskinesia and co-segregation with migraine with aura
Abstract
Paraneoplastic "rubral" tremor: a case report.
Articolo
Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease
Articolo
Phenotypic Variability of PINK1 Expression: 12 Years' Clinical Follow-up of Two Italian Families
Articolo
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families
Articolo
Phenotypic characterization of DYT13 primary torsion dystonia
Articolo
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia?
Articolo
Pisa syndrome in Parkinson's disease: clinical, electromyographic, and radiological characterization.
Articolo
Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
Articolo
Postural responses to continuous unilateral neck muscle vibration in standing patients with cervical dystonia.
Articolo
Preexisting Bipolar Disorder Influences the Subsequent Phenotype of Parkinson's Disease
Articolo
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells
Articolo
Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
Abstract
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report
Articolo
Quantitative comparison of barbiturates in essential hand and head tremor
Articolo
Quantitative study of mitochondrial complex I in platelets of parkinsonian patients
Articolo
Quieting Cholinergic Neurons in Dystonia
Articolo
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria
Articolo
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy
Articolo
Relationship Between Hallucinations, Delusions, and Rapid EyeMovement Sleep Behavior Disorder in Parkinson’s Disease
Articolo
Reply to: Comment on De Giorgis et al. “Randomized Phase 3 Study of Triheptanoin for Glut1 Deficiency Syndrome–Associated Paroxysmal Movement Disorders”
Articolo
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts
Articolo
Reply to: “Increased alpha-Synuclein Level in CD45+ Blood Cells in Asymptomatic Carriers of GBA Mutations”
Articolo
Reply to: “Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort”
Articolo
Rhythmic movement disorder and cyclic alternating pattern during sleep: a video-polysomnographic study in a 9-year-old boy
Articolo
Rhythmic movements in idiopathic REM sleep behavior disorder
Articolo
Rich phenotype in a family with alpha-synuclein gene duplication
Abstract
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Articolo
Striatal synaptic plasticity: implications for motor learning and Parkinson's disease
Articolo
Systemic activation of Nrf2 pathway in Parkinson's disease
Articolo
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation
Articolo
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene
Abstract
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
Articolo
The PRIAMO study: A multicenter assessment of nonmotor symptoms and their impact on quality of life in Parkinson's disease
Articolo
The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm
Articolo
The syndrome of deafness-dystonia - A case series of 11 patients
Abstract
The syndrome of deafness-dystonia: Clinical and genetic heterogeneity
Articolo
The use of NMDA antagonist memantine in drug-resistant dyskinesias resulting from L-dopa
Articolo
Transcranial direct current stimulation for treatment of freezing of gait: a cross-over study
Articolo
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study
Articolo
Twenty years on: Myoclonus-dystonia and ε-sarcoglycan — neurodevelopment, channel, and signaling dysfunction
Articolo
Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp
Articolo
Update on dystonia
Abstract
Vesicular Acetylcholine Transporter Alters Cholinergic Tone and Synaptic Plasticity in DYT1 Dystonia
Articolo
Walking along circular trajectories in Parkinson's disease
Articolo
X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity
Articolo
No Results Found
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