Search Results - "Rini, Augusto"
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Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
Published in Clinical parkinsonism & related disorders (01-01-2023)“…We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic…”
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Neurological Involvement in the Course of Scleromyxedema: A Case Report
Published in Journal of stroke and cerebrovascular diseases (01-09-2016)“…Scleromyxedema is a rare disease of unknown etiology primarily affecting the skin, characterized by generalized papular eruption, dermal fibroblast…”
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The Choice of Leg During Pull Test in Parkinson's Disease: Not Mere Chance
Published in Frontiers in neurology (06-05-2020)“…Background: Parkinson's disease (PD) starts asymmetrically and it maintains a certain degree of asymmetry throughout its course. Once functional disability…”
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Migraine associated with facial ecchymoses ipsilateral to the symptomatic side
Published in Journal of headache and pain (01-12-2004)“…The following is the case of a 55-year-old woman showing palpebral ecchymoses ipsilateral to the symptomatic side during migraine episodes. The lesions are not…”
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When flying can cause stroke: a case of cerebral air embolism requiring craniectomy
Published in Acta neurologica Belgica (01-04-2024)Get full text
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Dystonia and parkinsonism as presenting CADASIL features: a case report
Published in Neurological sciences (01-11-2021)Get full text
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Severe thrombocytopenia during Natalizumab therapy: A case report
Published in Journal of the neurological sciences (15-02-2020)Get full text
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Risk of Persistent Disability in Patients With Pediatric-Onset Multiple Sclerosis
Published in JAMA neurology (01-06-2021)“…Availability of new disease-modifying therapies (DMTs) and changes of therapeutic paradigms have led to a general improvement of multiple sclerosis (MS)…”
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VPS13C-associated Parkinson's disease: Two novel cases and review of the literature
Published in Parkinsonism & related disorders (01-01-2022)“…VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound…”
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Multiple Sclerosis Progression and Relapse Activity in Children
Published in JAMA neurology (01-01-2024)“…Although up to 20% of patients with multiple sclerosis (MS) experience onset before 18 years of age, it has been suggested that people with pediatric-onset MS…”
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Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant
Published in Parkinsonism & related disorders (01-11-2022)Get full text
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Baseline Patient and Caregiver Characteristics From a Prospective, Noninterventional, Real-World Study (REALITY) on the Effect of Alemtuzumab on Fatigue and Other Patient- and Caregiver-Reported Quality-of-Life Outcomes in Patients With RRMS (143)
Published in Neurology (14-04-2020)“…Abstract only…”
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Evaluation of drivers of treatment switch in relapsing multiple sclerosis: a study from the Italian MS Registry
Published in Journal of neurology (01-03-2024)“…Background Active relapsing–remitting (RR) and secondary progressive (SP) multiple sclerosis (MS) are currently defined as “relapsing MS” (RMS). The aim of…”
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Continuous subcutaneous apomorphine infusion allowing awake deep brain stimulation in a Parkinson's disease patient
Published in Journal of Clinical Movement Disorders (Online) (09-04-2021)“…Subthalamic Deep Brain Stimulation (DBS) have demonstrated in the last decades to determine an important clinical improvement in advanced and selected…”
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Visuospatial Deficits Are Associated with Pisa Syndrome and not Camptocormia in Parkinson's Disease
Published in Movement disorders clinical practice (Hoboken, N.J.) (01-01-2023)“…ABSTRACT Background Pisa syndrome (PS) and camptocormia (CC) are postural abnormalities frequently associated with Parkinson's disease (PD). Their…”
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When flying can cause stroke: a case of cerebral air embolism requiring craniectomy
Published in Acta neurologica Belgica (01-04-2024)Get full text
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