Search Results - "Meneri, Megi"

Diagnostic and Prognostic Role of Blood and Cerebrospinal Fluid and Blood Neurofilaments in Amyotrophic Lateral Sclerosis: A Review of the Literature by Gagliardi, Delia, Meneri, Megi, Saccomanno, Domenica, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder affecting upper and lower motor neurons (MNs) that still lacks an efficacious…”
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Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 by Maggi, Lorenzo, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Ferraro, Manfredi, Bozzoni, Virginia, Caumo, Luca, Piras, Rachele, Tanel, Raffaella, Saccani, Elena, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, Soraru', Gianni, D'Errico, Eustachio, Tramacere, Irene, Bortolani, Sara, Pavesi, Giovanni, Zanin, Riccardo, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Marrosu, Gianni, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena

“…ObjectiveTo retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy…”
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Advancing Stroke Research on Cerebral Thrombi with Omic Technologies by Costamagna, Gianluca, Bonato, Sara, Corti, Stefania, Meneri, Megi

“…Cerebrovascular diseases represent a leading cause of disability, morbidity, and death worldwide. In the last decade, the advances in endovascular procedures…”
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NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients by Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario

“…Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of…”
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Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients by Faravelli, Irene, Meneri, Megi, Saccomanno, Domenica, Velardo, Daniele, Abati, Elena, Gagliardi, Delia, Parente, Valeria, Petrozzi, Lucia, Ronchi, Dario, Stocchetti, Nino, Calderini, Edoardo, D’Angelo, Grazia, Chidini, Giovanna, Prandi, Edi, Ricci, Giulia, Siciliano, Gabriele, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania, Magri, Francesca, Govoni, Alessandra

“…The antisense oligonucleotide Nusinersen has been recently licensed to treat spinal muscular atrophy (SMA). Since SMA type 3 is characterized by variable…”
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Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study by Gagliardi, Delia, Ripellino, Paolo, Meneri, Megi, Del Bo, Roberto, Antognozzi, Sara, Comi, Giacomo Pietro, Gobbi, Claudio, Ratti, Antonia, Ticozzi, Nicola, Silani, Vincenzo, Ronchi, Dario, Corti, Stefania

“…was the first gene associated with both familial and sporadic forms of amyotrophic lateral sclerosis (ALS) and is the second most mutated gene in Caucasian ALS…”
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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation by Scarcella, Simone, Dell'Arti, Laura, Gagliardi, Delia, Magri, Francesca, Govoni, Alessandra, Velardo, Daniele, Mainetti, Claudia, Minorini, Valeria, Ronchi, Dario, Piga, Daniela, Comi, Giacomo Pietro, Corti, Stefania, Meneri, Megi

“…Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur…”
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The impact of upper motor neuron involvement on clinical features, disease progression and prognosis in amyotrophic lateral sclerosis by Colombo, Eleonora, Gentile, Francesco, Maranzano, Alessio, Doretti, Alberto, Verde, Federico, Olivero, Marco, Gagliardi, Delia, Faré, Matteo, Meneri, Megi, Poletti, Barbara, Maderna, Luca, Corti, Stefania, Corbo, Massimo, Morelli, Claudia, Silani, Vincenzo, Ticozzi, Nicola

“…Objectives In amyotrophic lateral sclerosis (ALS) both upper (UMNs) and lower motor neurons (LMNs) are involved in the process of neurodegeneration, accounting…”
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New Insights into Cerebral Vessel Disease Landscapes at Single-Cell Resolution: Pathogenetic and Therapeutic Perspectives by Meneri, Megi, Bonato, Sara, Gagliardi, Delia, Comi, Giacomo P, Corti, Stefania

“…Cerebrovascular diseases are a leading cause of death and disability globally. The development of new therapeutic targets for cerebrovascular diseases (e.g.,…”
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Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression by Manini, Arianna, Meneri, Megi, Rodolico, Carmelo, Corti, Stefania, Toscano, Antonio, Comi, Giacomo Pietro, Musumeci, Olimpia, Ronchi, Dario

“…The nuclear gene encodes the mitochondrial thymidine kinase, an enzyme involved in the phosphorylation of deoxycytidine and deoxythymidine nucleosides…”
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Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions by Manini, Arianna, Caporali, Leonardo, Meneri, Megi, Zanotti, Simona, Piga, Daniela, Arena, Ignazio Giuseppe, Corti, Stefania, Toscano, Antonio, Comi, Giacomo Pietro, Musumeci, Olimpia, Carelli, Valerio, Ronchi, Dario

“…Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions…”
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Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects by Brusati, Alberto, Ratti, Antonia, Pensato, Viviana, Peverelli, Silvia, Gentilini, Davide, Dalla Bella, Eleonora, Sorce, Marta Nice, Meneri, Megi, Gagliardi, Delia, Corti, Stefania, Gellera, Cinzia, Lauria Pinter, Giuseppe, Ticozzi, Nicola, Silani, Vincenzo

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and/or lower motor neurons and characterized by complex etiology. Familial…”
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Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets by Gagliardi, Delia, Pagliari, Elisa, Meneri, Megi, Melzi, Valentina, Rizzo, Federica, Comi, Giacomo Pietro, Corti, Stefania, Taiana, Michela, Nizzardo, Monica

“…Motor neuron diseases (MNDs) are a group of fatal, neurodegenerative disorders with different etiology, clinical course and presentation, caused by the loss of…”
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Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples by Meneri, Megi, Abati, Elena, Gagliardi, Delia, Faravelli, Irene, Parente, Valeria, Ratti, Antonia, Verde, Federico, Ticozzi, Nicola, Comi, Giacomo P, Ottoboni, Linda, Corti, Stefania

“…Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations or deletions in that lead to progressive death of alpha motor neurons,…”
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TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis by Ronchi, Dario, Caporali, Leonardo, Manenti, Giulia Francesca, Meneri, Megi, Mohamed, Susan, Bordoni, Andreina, Tagliavini, Francesca, Contin, Manuela, Piga, Daniela, Sciacco, Monica, Saetti, Cristina, Carelli, Valerio, Comi, Giacomo Pietro

“…Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and…”
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Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis by Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Scaglione, Cesa, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario

“…HTT full‐penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal…”
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Newly Diagnosed Hepatic Encephalopathy Presenting as Non-convulsive Status Epilepticus: A Case Report and Literature Review by Olivero, Marco, Gagliardi, Delia, Costamagna, Gianluca, Velardo, Daniele, Magri, Francesca, Triulzi, Fabio, Conte, Giorgio, Comi, Giacomo P, Corti, Stefania, Meneri, Megi

“…Hepatic encephalopathy is characterized by psychiatric and neurological abnormalities, including epileptic seizure and non-convulsive and convulsive status…”
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Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature by Gagliardi, Delia, Mauri, Eleonora, Magri, Francesca, Velardo, Daniele, Meneri, Megi, Abati, Elena, Brusa, Roberta, Faravelli, Irene, Piga, Daniela, Ronchi, Dario, Triulzi, Fabio, Peverelli, Lorenzo, Sciacco, Monica, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania, Govoni, Alessandra

“…Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most…”
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Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the Field by Furciniti, Gioconda, Casalino, Giuseppe, Lo Russo, Francesco M., Bolli, Niccolò, Meneri, Megi, Comi, Giacomo P., Corti, Stefania P., Velardo, Daniele

“…POEMS syndrome—characterized by polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes—is an uncommon and complex paraneoplastic disorder…”
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Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions by Nasca, Alessia, Legati, Andrea, Meneri, Megi, Ermert, Melisa Emel, Frascarelli, Chiara, Zanetti, Nadia, Garbellini, Manuela, Comi, Giacomo Pietro, Catania, Alessia, Lamperti, Costanza, Ronchi, Dario, Ghezzi, Daniele

“…Endonuclease G (ENDOG) is a nuclear-encoded mitochondrial-localized nuclease. Although its precise biological function remains unclear, its proximity to…”
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