Roberta Telese
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View article: Effects of <i>GBA1</i> Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation‐Wide, Multicenter, Longitudinal, “Real‐World” Study. The <scp>EPIC</scp> Study
Effects of <i>GBA1</i> Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation‐Wide, Multicenter, Longitudinal, “Real‐World” Study. The <span>EPIC</span> Study Open
Background The outcome of levodopa/carbidopa intestinal gel (LCIG) in Parkinson's disease carriers of GBA1 mutations (GBA‐PD) remains uncertain. Objective To evaluate the safety and efficacy of LCIG in a large PD cohort, focusing on GBA1 v…
View article: Genetic Etiology Influences the Low‐Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia
Genetic Etiology Influences the Low‐Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia Open
Background Elevated low‐frequency activity (4–12 Hz) within the globus pallidus internus (GPi) has been consistently associated with dystonia. However, the impacts of the genetic etiology of dystonia on low‐frequency GPi activity remain un…
View article: Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes Open
Objective Genetic dystonia is a complex movement disorder with diverse clinical manifestations resulting from pathogenic mutations in associated genes. A recent paradigm shift emphasizes the functional convergence among dystonia genes, hin…
View article: Magnetic Resonance–Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse
Magnetic Resonance–Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse Open
Background Magnetic resonance–guided focused ultrasound (MRgFUS) thalamotomy of ventral intermediate (Vim) nucleus is useful to treat drug‐resistant tremor‐dominant Parkinson's disease (TdPD), but tremor relapse may occur. Predictors of re…
View article: Integrated management of atypical parkinsonism: a home-based patient-centered healthcare delivery based on telenursing—the IMPACT study protocol
Integrated management of atypical parkinsonism: a home-based patient-centered healthcare delivery based on telenursing—the IMPACT study protocol Open
Background: People with atypical parkinsonism, such as multiple system atrophy and progressive supranuclear palsy, experience a wide range of motor and non-motor symptoms associated with the increasing complexity of care delivery and the i…
View article: Causative Role of the <scp><i>SLC6A1</i></scp> p.<scp>Asp451Gly</scp> Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder
Causative Role of the <span><i>SLC6A1</i></span> p.<span>Asp451Gly</span> Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder Open
View article: Focused ultrasound therapy in movement disorders: management roadmap toward optimal pathway organization
Focused ultrasound therapy in movement disorders: management roadmap toward optimal pathway organization Open
MRI-guided focused ultrasound (MRgFUS) lesioning is an innovative, safe and effective treatment which provides an innovative development in the field of minimally invasive stereotactic neurosurgery. Based on the application of focused ultr…
View article: Aceruloplasminemia: Unique Clinical and <scp>MRI</scp> Findings in a Patient with a Novel Frameshift Mutation
Aceruloplasminemia: Unique Clinical and <span>MRI</span> Findings in a Patient with a Novel Frameshift Mutation Open
Aceruloplasminemia (ACP; OMIM #604290) is a rare disorder caused by biallelic mutations of the ceruloplasmin (CP) gene, resulting in the absence of serum CP.1 CP inactivation leads to iron metabolism abnormalities with subsequent cellular …
View article: The Optimal Targeting for Focused Ultrasound Thalamotomy Differs between Dystonic and Essential Tremor: A 12‐Month Prospective Pilot Study
The Optimal Targeting for Focused Ultrasound Thalamotomy Differs between Dystonic and Essential Tremor: A 12‐Month Prospective Pilot Study Open
Background Magnetic resonance‐guided focused ultrasound (MRgFUS) thalamotomy is increasingly used to treat drug‐resistant essential tremor (ET). Data on MRgFUS thalamotomy in dystonic tremor (DT) are anecdotal. Objectives To investigate ef…
View article: Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) Open
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The …
View article: A Critical Review of Alien Limb-Related Phenomena and Implications for Functional Magnetic Resonance Imaging Studies
A Critical Review of Alien Limb-Related Phenomena and Implications for Functional Magnetic Resonance Imaging Studies Open
Consensus criteria on corticobasal degeneration (CBD) include alien limb (AL) phenomena. However, the gist of the behavioral features of AL is still “a matter of debate.” CBD-related AL has so far included the description of involuntary mo…
View article: Primary Angiitis of the Central Nervous System (PACNS): A Commentary on a Proposed Screening Algorithm and an Update on Diagnosis and Treatment
Primary Angiitis of the Central Nervous System (PACNS): A Commentary on a Proposed Screening Algorithm and an Update on Diagnosis and Treatment Open
View article: Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis Open
View article: Correction to: “When should primary angiitis of the central nervous system (PACNS) be suspected?”: literature review and proposal of a preliminary screening algorithm
Correction to: “When should primary angiitis of the central nervous system (PACNS) be suspected?”: literature review and proposal of a preliminary screening algorithm Open
View article: “When should primary angiitis of the central nervous system (PACNS) be suspected?”: literature review and proposal of a preliminary screening algorithm
“When should primary angiitis of the central nervous system (PACNS) be suspected?”: literature review and proposal of a preliminary screening algorithm Open
View article: <i>MYH2</i> myopathy, a new case expands the clinical and pathological spectrum of the recessive form
<i>MYH2</i> myopathy, a new case expands the clinical and pathological spectrum of the recessive form Open
Background Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers.…
View article: Does the Degree of Trunk Bending Predict Patient Disability, Motor Impairment, Falls, and Back Pain in Parkinson's Disease?
Does the Degree of Trunk Bending Predict Patient Disability, Motor Impairment, Falls, and Back Pain in Parkinson's Disease? Open
Background: Postural abnormalities in Parkinson's disease (PD) form a spectrum of functional trunk misalignment, ranging from a "typical" parkinsonian stooped posture to progressively greater degrees of spine deviation. Objective…
View article: Inflammatory polyradiculoneuropathies: Clinical and immunological aspects, current therapies, and future perspectives
Inflammatory polyradiculoneuropathies: Clinical and immunological aspects, current therapies, and future perspectives Open
Inflammatory polyradiculoneuropathies are heterogeneous disorders characterized by immune-mediated leukocyte infiltration of peripheral nerves and nerve roots leading to demyelination or axonal degeneration or both. Inflammatory polyradicu…
View article: Brainstem evoked potentials and magnetic resonance imaging abnormalities in differential diagnosis of intracranial hypotension
Brainstem evoked potentials and magnetic resonance imaging abnormalities in differential diagnosis of intracranial hypotension Open