A5064046085- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Metabolism and Genetic Disorders
- Autophagy in Disease and Therapy
- Fetal and Pediatric Neurological Disorders
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Hereditary Neurological Disorders
- Neonatal Health and Biochemistry
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- Neurological disorders and treatments
- Peripheral Neuropathies and Disorders
- Neurological Complications and Syndromes
- Moyamoya disease diagnosis and treatment
- Complement system in diseases
- Histone Deacetylase Inhibitors Research
- Ubiquitin and proteasome pathways
- Takotsubo Cardiomyopathy and Associated Phenomena
- Mitochondrial Function and Pathology
- Advanced Neuroimaging Techniques and Applications
- Children's Physical and Motor Development
- Biochemical and Molecular Research
Vita-Salute San Raffaele University
2023-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2024-2025
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2024-2025
Beth Israel Deaconess Medical Center
2020-2024
Harvard University
2020-2024
Ospedale dei Bambini Vittore Buzzi
2021-2024
University of Rochester
2024
IRCCS Ospedale San Raffaele
2023-2024
San Raffaele University of Rome
2023
Hadassah Medical Center
2023
The genetic causes of epilepsies and developmental epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished retrospectively review the clinical, genetic, EEG, neuroimaging, outcome data patients experiencing epilepsy first three years life, diagnosed followed up four Italian centres (Epilepsy Centre San Paolo University Hospital Milan, Child Neurology Psychiatry Unit AUSL-IRCCS...
Abstract Objective We present the cases of two sisters, both harboring same ALDH18A1 gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis ataxia, epileptic encephalopathy, severe psychomotor deficits, and behavioral abnormalities. Methods Case description sisters mutations. Results The older patient, 12‐year‐old girl, exhibited microcephaly, facial dysmorphisms, intellectual disability, an absence verbal language. An electroencephalogram (EEG)...
Introduction: It is unclear which patients with non-traumatic (spontaneous) intracerebral haemorrhage (ICH) are at risk of developing acute symptomatic seizures (provoked occurring within the first week after stroke onset; early seizures, ES) and whether ES predispose to occurrence remote (unprovoked more than 1 stroke; post-stroke epilepsy, PSE) long-term mortality. Patients Methods: In setting Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) we examined they predict PSE...
Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with wide phenotypic presentation, classically grouped into three types (neonatal, type I, and II). We aim to better delineate the pathological spectrum, focusing on electroclinical characteristics differences of patients ADSL deficiency.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with variable phenotypic expressions which has been associated autonomic dysfunction. The cardiovascular system seems to be affected especially in the context of bulbar involvement. We describe four new cases Tako-Tsubo syndrome (TTS) ALS patients an appraisal literature. present late-stage patient prominent involvement that presented TTS during hospitalization. then retrospectively identify three additional ALS–TTS reporting...
Abstract Objectives Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present novel phenotype and review the existing literature on ‐related disorders. Methods We performed EEG recordings, brain MRI MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) family study. Effects variant were established cultured fibroblasts skin punch biopsy. Results The patient...
Premature children are at increased risk of executive functions (EF) deficits and these difficulties persist into adolescence adulthood, potentially undermining their development academic achievements. The aim the present randomized controlled trial (RCT) is to evaluate efficacy Intendu trainer, an adaptive virtual reality platform, ameliorating EF in preterm children.
Peroxisome proliferator‐activated receptor gamma coactivator 1‐alpha (PGC‐1α) is a key regulator of mitochondrial biogenesis and antioxidative defenses, it may play critical role in Parkinson's disease (PD). F‐box/WD repeat domain‐containing protein (FBXW7), an E3 ligase, promotes the degradation substrate proteins through ubiquitin‐proteasome system (UPS) leads to clearance PGC‐1α. Here, we elucidate novel post‐translational mechanism for regulating PGC‐1α levels neurons. We show that...
Abstract Background In the present study we assessed protective effects of a pharmacological approach to stabilize retromer complex in PD mouse model. Missense mutations VPS35 gene are rare cause familial PD. The protein is subunit cargo recognition and has variety functions within neurons, many which potentially relevant for pathophysiology Prior studies have revealed role controlling accumulation clearance α-synuclein aggregates. We previously identified an aminoguanidine hydrazone, 1,3...