Search Results - "Bertini, Enrico"

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases by Sferra, Antonella, Nicita, Francesco, Bertini, Enrico

“…Neurons are particularly susceptible to microtubule (MT) defects and deregulation of the MT cytoskeleton is considered to be a common insult during the…”
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Childhood spinal muscular atrophy: controversies and challenges by Mercuri, Eugenio, Prof, Bertini, Enrico, MD, Iannaccone, Susan T, Prof

“…Summary Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations…”
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Spinal muscular atrophy by D'Amico, Adele, Mercuri, Eugenio, Tiziano, Francesco D, Bertini, Enrico

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord,…”
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Impact of COVID-19 forecast visualizations on pandemic risk perceptions by Padilla, Lace, Hosseinpour, Helia, Fygenson, Racquel, Howell, Jennifer, Chunara, Rumi, Bertini, Enrico

“…People worldwide use SARS-CoV-2 (COVID-19) visualizations to make life and death decisions about pandemic risks. Understanding how these visualizations…”
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The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia by La Rosa, Piergiorgio, Petrillo, Sara, Turchi, Riccardo, Berardinelli, Francesco, Schirinzi, Tommaso, Vasco, Gessica, Lettieri-Barbato, Daniele, Fiorenza, Maria Teresa, Bertini, Enrico S., Aquilano, Katia, Piemonte, Fiorella

“…Ferroptosis is an iron-dependent cell death caused by impaired glutathione metabolism, lipid peroxidation and mitochondrial failure. Emerging evidences report…”
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209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands by Finkel, Richard, Bertini, Enrico, Muntoni, Francesco, Mercuri, Eugenio

“…Highlights • An updated classification for SMA is presented. • The utility and limitations of animal models in SMA is discussed. • Biomarkers that are…”
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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study by De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

“…•NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA.•All infants were ≥25 months old, and alive without permanent…”
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Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons by Zocchi, Riccardo, Compagnucci, Claudia, Bertini, Enrico, Sferra, Antonella

“…Microtubules (MTs) are dynamic components of the cell cytoskeleton involved in several cellular functions, such as structural support, migration and…”
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Systemic activation of Nrf2 pathway in Parkinson's disease by Petrillo, Sara, Schirinzi, Tommaso, Di Lazzaro, Giulia, D'Amico, Jessica, Colona, Vito L., Bertini, Enrico, Pierantozzi, Mariangela, Mari, Luisa, Mercuri, Nicola B., Piemonte, Fiorella, Pisani, Antonio

“…Background Preclinical studies underlined the relevance of Nuclear factor erythroid 2‐related factor 2 (Nrf2) transcription factor pathway in the pathogenesis…”
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Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation by Tonduti, Davide, Mura, Eleonora, Masnada, Silvia, Bertini, Enrico, Aiello, Chiara, Zini, Daniela, Parmeggiani, Lucio, Cantalupo, Gaetano, Talenti, Giacomo, Veggiotti, Pierangelo, Spaccini, Luigina, Iascone, Maria, Parazzini, Cecilia

“…Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination"…”
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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy by Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger

“…Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative…”
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The Potential of iPSCs for the Treatment of Premature Aging Disorders by Compagnucci, Claudia, Bertini, Enrico

“…Premature aging disorders including Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome, are a group of rare monogenic diseases leading to reduced…”
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Editorial: Tubulinopathies: fundamental and clinical challenges by Sferra, Antonella, Bertini, Enrico, Haase, Georg

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Publisher Correction: Impact of COVID-19 forecast visualizations on pandemic risk perceptions by Padilla, Lace, Hosseinpour, Helia, Fygenson, Racquel, Howell, Jennifer, Chunara, Rumi, Bertini, Enrico

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Consensus Statement for Standard of Care in Spinal Muscular Atrophy by Wang, Ching H., Finkel, Richard S., Bertini, Enrico S., Schroth, Mary, Simonds, Anita, Wong, Brenda, Aloysius, Annie, Morrison, Leslie, Main, Marion, Crawford, Thomas O., Trela, Anthony

“…Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular…”
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Induced Pluripotent Stem Cells (iPSCs) and Gene Therapy: A New Era for the Treatment of Neurological Diseases by Paolini Sguazzi, Giulia, Muto, Valentina, Tartaglia, Marco, Bertini, Enrico, Compagnucci, Claudia

“…To date, gene therapy has employed viral vectors to deliver therapeutic genes. However, recent progress in molecular and cell biology has revolutionized the…”
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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias by Garone, Giacomo, Capuano, Alessandro, Travaglini, Lorena, Graziola, Federica, Stregapede, Fabrizia, Zanni, Ginevra, Vigevano, Federico, Bertini, Enrico, Nicita, Francesco

“…Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main…”
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PCDH19‐related epilepsy in two mosaic male patients by Terracciano, Alessandra, Trivisano, Marina, Cusmai, Raffaella, De Palma, Luca, Fusco, Lucia, Compagnucci, Claudia, Bertini, Enrico, Vigevano, Federico, Specchio, Nicola

“…Summary PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. The PCDH19 gene…”
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Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum by Buelow, Markus, Süßmuth, David, Smith, Laurie D, Aryani, Omid, Castiglioni, Claudia, Stenzel, Werner, Bertini, Enrico, Schuelke, Markus, Knierim, Ellen

“…Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive disease caused by homozygous or compound…”
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Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia by Petrillo, Sara, Piermarini, Emanuela, Pastore, Anna, Vasco, Gessica, Schirinzi, Tommaso, Carrozzo, Rosalba, Bertini, Enrico, Piemonte, Fiorella

“…Oxidative stress is actively involved in Friedreich's Ataxia (FA), thus pharmacological targeting of the antioxidant machinery may have therapeutic value…”
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