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Spinal muscular atrophy—recent therapeutic advances for an old challenge
Author / Creator:Faravelli, Irene ; Nizzardo, Monica ; Comi, Giacomo P. ; Corti, Stefania
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Neurology, 2015-06, Vol.11 (6), p.351-359
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The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease
Author / Creator:Monzio Compagnoni, Giacomo ; Di Fonzo, Alessio ; Corti, Stefania ; Comi, Giacomo P. ; Bresolin, Nereo ; Masliah, Eliezer
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2020-07, Vol.57 (7), p.2959-2980
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Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy
Author / Creator:Govoni, Alessandra ; Gagliardi, Delia ; Comi, Giacomo P. ; Corti, Stefania
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2018-08, Vol.55 (8), p.6307-6318
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Author / Creator:Brogna, Claudia ; Coratti, Giorgia ; Pane, Marika ; Ricotti, Valeria ; Messina, Sonia ; D’Amico, Adele ; Bruno, Claudio ; Vita, Gianluca ; Berardinelli, Angela ; Mazzone, Elena ; Magri, Francesca ; Ricci, Federica ; Mongini, Tiziana ; Battini, Roberta ; Bello, Luca ; Pegoraro, Elena ; Baranello, Giovanni ; Previtali, Stefano C. ; Politano, Luisa ; Comi, Giacomo P. ; Sansone, Valeria A. ; Donati, Alice ; Bertini, Enrico ; Muntoni, Francesco ; Goemans, Nathalie ; Mercuri, Eugenio
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-06, Vol.14 (6), p.e0218683
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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy
Author / Creator:Barp, Andrea ; Bello, Luca ; Politano, Luisa ; Melacini, Paola ; Calore, Chiara ; Polo, Angela ; Vianello, Sara ; Sorarù, Gianni ; Semplicini, Claudio ; Pantic, Boris ; Taglia, Antonella ; Picillo, Ester ; Magri, Francesca ; Gorni, Ksenija ; Messina, Sonia ; Vita, Gian Luca ; Vita, Giuseppe ; Comi, Giacomo P. ; Ermani, Mario ; Calvo, Vincenzo ; Angelini, Corrado ; Hoffman, Eric P. ; Pegoraro, Elena
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-10, Vol.10 (10), p.e0141240-e0141240
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Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
Author / Creator:Bertini, Enrico, Prof ; Dessaud, Eric, PhD ; Mercuri, Eugenio, Prof ; Muntoni, Francesco, Prof ; Kirschner, Janbernd, Prof ; Reid, Carol, PhD ; Lusakowska, Anna, MD ; Comi, Giacomo P, Prof ; Cuisset, Jean-Marie, MD ; Abitbol, Jean-Louis, MD ; Scherrer, Bruno, PhD ; Ducray, Patricia Sanwald, PhD ; Buchbjerg, Jeppe, MSc ; Vianna, Eduardo, PhD ; van der Pol, W Ludo, MD ; Vuillerot, Carole, MD ; Blaettler, Thomas, MD ; Fontoura, Paulo, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2017-07, Vol.16 (7), p.513-522
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SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
Author / Creator:Bitetto, Giacomo ; Lopez, Gianluca ; Ronchi, Dario ; Pittaro, Alessandra ; Melzi, Valentina ; Peverelli, Erika ; Cribiù, Fulvia Milena ; Comi, Giacomo P. ; Mantovani, Giovanna ; Di Fonzo, Alessio
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.152-152, Article 152
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Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights
Author / Creator:Saladini, Matteo ; Nizzardo, Monica ; Govoni, Alessandra ; Taiana, Michela ; Bresolin, Nereo ; Comi, Giacomo P. ; Corti, Stefania
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2020-01, Vol.24 (2), p.1169-1178
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SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
Author / Creator:Tafuri, Francesco ; Ronchi, Dario ; Magri, Francesca ; Comi, Giacomo P. ; Corti, Stefania
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in cellular neuroscience, 2015-08, Vol.9, p.336-336
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MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis
Author / Creator:Gagliardi, Delia ; Comi, Giacomo P. ; Bresolin, Nereo ; Corti, Stefania
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2019-03, Vol.23 (3), p.1647-1656
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Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes
Author / Creator:Pane, Marika ; Mazzone, Elena Stacy ; Sivo, Serena ; Sormani, Maria Pia ; Messina, Sonia ; D′Amico, Adele ; Carlesi, Adelina ; Vita, Gianluca ; Fanelli, Lavinia ; Berardinelli, Angela ; Torrente, Yvan ; Lanzillotta, Valentina ; Viggiano, Emanuela ; D′Ambrosio, Paola ; Cavallaro, Filippo ; Frosini, Silvia ; Barp, Andrea ; Bonfiglio, Serena ; Scalise, Roberta ; De Sanctis, Roberto ; Rolle, Enrica ; Graziano, Alessandra ; Magri, Francesca ; Palermo, Concetta ; Rossi, Francesca ; Donati, Maria Alice ; Sacchini, Michele ; Arnoldi, Maria Teresa ; Baranello, Giovanni ; Mongini, Tiziana ; Pini, Antonella ; Battini, Roberta ; Pegoraro, Elena ; Previtali, Stefano ; Bruno, Claudio ; Politano, Luisa ; Comi, Giacomo P. ; Bertini, Enrico ; Mercuri, Eugenio
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-10, Vol.9 (10), p.e108205-e108205
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ArticlesPeer ReviewedFull Text
Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials
Author / Creator:Zanetta, Chiara, MD ; Nizzardo, Monica, PhD ; Simone, Chiara, PhD ; Monguzzi, Erika, PhD ; Bresolin, Nereo, MD ; Comi, Giacomo P., MD ; Corti, Stefania, MD, PhD
Publisher:Bridgewater, NJ: Elsevier Inc
Journal title:Clinical therapeutics, 2014, Vol.36 (1), p.128-140
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ArticlesPeer ReviewedFull Text
R-Loops in Motor Neuron Diseases
Author / Creator:Perego, Martina G. L. ; Taiana, Michela ; Bresolin, Nereo ; Comi, Giacomo P. ; Corti, Stefania
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2019-04, Vol.56 (4), p.2579-2589
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ArticlesPeer ReviewedFull Text
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Author / Creator:Mercuri, Eugenio ; Vilchez, Juan J ; Boespflug-Tanguy, Odile ; Zaidman, Craig M ; Mah, Jean K ; Goemans, Nathalie ; Müller-Felber, Wolfgang ; Niks, Erik H ; Schara-Schmidt, Ulrike ; Bertini, Enrico ; Comi, Giacomo P ; Mathews, Katherine D ; Servais, Laurent ; Vandenborne, Krista ; Johannsen, Jessika ; Messina, Sonia ; Spinty, Stefan ; McAdam, Laura ; Selby, Kathryn ; Byrne, Barry ; Laverty, Chamindra G ; Carroll, Kevin ; Zardi, Giulia ; Cazzaniga, Sara ; Coceani, Nicoletta ; Bettica, Paolo ; McDonald, Craig M ; Acsadi, Gyula ; Baranello, Giovanni ; Blaschek, Astrid ; Brandsema, John ; Brogna, Claudia ; Bruno, Claudio ; Connolly, Anne ; de Groot, Imelda ; De Waele, Liesbeth ; Finanger, Erika ; Finkel, Richard ; Gidaro, Teresa ; Guglieri, Michaela ; Harper, Amy ; Lopez Lobato, Mercedes ; Madruga Garrido, Marcos ; Magri, Francesca ; Manousakis, Georgios ; Masson, Riccardo ; Monduy, Migvis ; Muelas Gomez, Nuria ; Munell, Francina ; Nascimento, Andres ; Nevo, Yoram ; Pereon, Yann ; Phan, Han ; Sansone, Valeria ; Scoto, Mariacristina ; Vucinic, Dragana ; Willis, Tracey
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2024-04, Vol.23 (4), p.393-403
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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up
Author / Creator:Coratti, Giorgia ; Pane, Marika ; Brogna, Claudia ; Ricotti, Valeria ; Messina, Sonia ; D’Amico, Adele ; Bruno, Claudio ; Vita, Gianluca ; Berardinelli, Angela ; Mazzone, Elena ; Magri, Francesca ; Ricci, Federica ; Mongini, Tiziana ; Battini, Roberta ; Bello, Luca ; Pegoraro, Elena ; Baranello, Giovanni ; Previtali, Stefano C. ; Politano, Luisa ; Comi, Giacomo P. ; Sansone, Valeria A. ; Donati, Alice ; Hogrel, Jean Yves ; Straub, Volker ; De Lucia, Silvana ; Niks, Erik ; Servais, Laurent ; De Groot, Imelda ; Chesshyre, Mary ; Bertini, Enrico ; Goemans, Nathalie ; Muntoni, Francesco ; Mercuri, Eugenio
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2021-06, Vol.16 (6), p.e0253882-e0253882
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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Author / Creator:Kornblum, Cornelia ; Nicholls, Thomas J ; Haack, Tobias B ; Schöler, Susanne ; Peeva, Viktoriya ; Danhauser, Katharina ; Hallmann, Kerstin ; Zsurka, Gábor ; Rorbach, Joanna ; Iuso, Arcangela ; Wieland, Thomas ; Sciacco, Monica ; Ronchi, Dario ; Comi, Giacomo P ; Moggio, Maurizio ; Quinzii, Catarina M ; DiMauro, Salvatore ; Calvo, Sarah E ; Mootha, Vamsi K ; Klopstock, Thomas ; Strom, Tim M ; Meitinger, Thomas ; Minczuk, Michal ; Kunz, Wolfram S ; Prokisch, Holger
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-02, Vol.45 (2), p.214-219
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Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability
Author / Creator:Ahmed, Naghia ; Ronchi, Dario ; Comi, Giacomo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2015-08, Vol.16 (8), p.18054-18076
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6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes
Author / Creator:Pane, Marika ; Mazzone, Elena S. ; Sormani, Maria Pia ; Messina, Sonia ; Vita, Gian Luca ; Fanelli, Lavinia ; Berardinelli, Angela ; Torrente, Yvan ; D'Amico, Adele ; Lanzillotta, Valentina ; Viggiano, Emanuela ; D'Ambrosio, Paola ; Cavallaro, Filippo ; Frosini, Silvia ; Bello, Luca ; Bonfiglio, Serena ; Scalise, Roberta ; De Sanctis, Roberto ; Rolle, Enrica ; Bianco, Flaviana ; Van der Haawue, Marlene ; Magri, Francesca ; Palermo, Concetta ; Rossi, Francesca ; Donati, Maria Alice ; Alfonsi, Chiara ; Sacchini, Michele ; Arnoldi, Maria Teresa ; Baranello, Giovanni ; Mongini, Tiziana ; Pini, Antonella ; Battini, Roberta ; Pegoraro, Elena ; Previtali, Stefano C. ; Napolitano, Sara ; Bruno, Claudio ; Politano, Luisa ; Comi, Giacomo P. ; Bertini, Enrico ; Morandi, Lucia ; Gualandi, Francesca ; Ferlini, Alessandra ; Goemans, Nathalie ; Mercuri, Eugenio
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-01, Vol.9 (1), p.e83400-e83400
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Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study
Author / Creator:Gagliardi, Delia ; Faravelli, Irene ; Meneri, Megi ; Saccomanno, Domenica ; Govoni, Alessandra ; Magri, Francesca ; Ricci, Giulia ; Siciliano, Gabriele ; Pietro Comi, Giacomo ; Corti, Stefania
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2021-04, Vol.25 (8), p.3765-3771
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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
Author / Creator:Meneri, Megi ; Abati, Elena ; Gagliardi, Delia ; Faravelli, Irene ; Parente, Valeria ; Ratti, Antonia ; Verde, Federico ; Ticozzi, Nicola ; Comi, Giacomo P. ; Ottoboni, Linda ; Corti, Stefania
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2023-04, Vol.11 (5), p.1254
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Spinal muscular atrophy—recent therapeutic advances for an old challenge

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The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease

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Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy

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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

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Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

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SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome

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Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

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SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

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MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis

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Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

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Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials

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R-Loops in Motor Neuron Diseases

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Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up

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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

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Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

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6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

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Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study

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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

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