Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis by Monica Consonni, Valeria E. Contarino, Eleonora Catricalà, Eleonora Dalla Bella, Viviana Pensato, Cinzia Gellera, Giuseppe Lauria, Stefano F. Cappa

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An optimized method for manufacturing a clinical scale dendritic cell-based vaccine for the treatment of glioblastoma. by Sara Nava, Marta Dossena, Simona Pogliani, Serena Pellegatta, Carlo Antozzi, Fulvio Baggi, Cinzia Gellera, Bianca Pollo, Eugenio A Parati, Gaetano Finocchiaro, Simona Frigerio

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Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene by Serena Santangelo, Patrizia Bossolasco, Stefania Magri, Claudia Colombrita, Sabrina Invernizzi, Cinzia Gellera, Lorenzo Nanetti, Daniela Di Bella, Vincenzo Silani, Franco Taroni, Antonia Ratti

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Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages by Anna Nigri, Lidia Sarro, Lidia Sarro, Alessia Mongelli, Chiara Pinardi, Luca Porcu, Anna Castaldo, Stefania Ferraro, Marina Grisoli, Maria Grazia Bruzzone, Cinzia Gellera, Franco Taroni, Caterina Mariotti, Lorenzo Nanetti

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MiR-146a in ALS: Contribution to Early Peripheral Nerve Degeneration and Relevance as Disease Biomarker by Eleonora Giagnorio, Claudia Malacarne, Paola Cavalcante, Letizia Scandiffio, Marco Cattaneo, Viviana Pensato, Cinzia Gellera, Nilo Riva, Angelo Quattrini, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Silvia Bonanno, Stefania Marcuzzo

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Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes by Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci

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Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis by Monica Consonni, Eleonora Dalla Bella, Anna Nigri, Chiara Pinardi, Greta Demichelis, Luca Porcu, Cinzia Gellera, Viviana Pensato, Stefano F. Cappa, Stefano F. Cappa, Maria Grazia Bruzzone, Giuseppe Lauria, Giuseppe Lauria, Stefania Ferraro

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Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a <i>Drosophila</i> Model for Huntington’s Dis... by Luisa Vernizzi, Chiara Paiardi, Giusimaria Licata, Teresa Vitali, Stefania Santarelli, Martino Raneli, Vera Manelli, Manuela Rizzetto, Mariarosa Gioria, Maria E. Pasini, Daniela Grifoni, Maria A. Vanoni, Cinzia Gellera, Franco Taroni, Paola Bellosta

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Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients by Silvia Bonanno, Stefania Marcuzzo, Claudia Malacarne, Eleonora Giagnorio, Riccardo Masson, Riccardo Zanin, Maria Teresa Arnoldi, Francesca Andreetta, Ornella Simoncini, Anna Venerando, Cinzia Gellera, Chiara Pantaleoni, Renato Mantegazza, Pia Bernasconi, Giovanni Baranello, Lorenzo Maggi

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Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes by Ilaria Mosca, Ilaria Rivolta, Audrey Labalme, Paolo Ambrosino, Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Elena Freri, Anna Binda, Gaetan Lesca, Jacopo C. DiFrancesco, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela

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Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy by Ilaria Mosca, Elena Freri, Paolo Ambrosino, Giorgio Belperio, Tiziana Granata, Laura Canafoglia, Francesca Ragona, Roberta Solazzi, Ilaria Filareto, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela

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Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy. by Marta Dossena, Gloria Bedini, Paola Rusmini, Elisa Giorgetti, Alessandra Canazza, Valentina Tosetti, Ettore Salsano, Anna Sagnelli, Caterina Mariotti, Cinzia Gellera, Stefania Elena Navone, Giovanni Marfia, Giulio Alessandri, Fabio Corsi, Eugenio Agostino Parati, Davide Pareyson, Angelo Poletti

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Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment by Silvia Bonanno, Paola Cavalcante, Erika Salvi, Eleonora Giagnorio, Claudia Malacarne, Claudia Malacarne, Marco Cattaneo, Francesca Andreetta, Anna Venerando, Viviana Pensato, Cinzia Gellera, Riccardo Zanin, Maria Teresa Arnoldi, Claudia Dosi, Renato Mantegazza, Riccardo Masson, Lorenzo Maggi, Stefania Marcuzzo

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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy by Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini

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A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability by Mattia Bonzanni, Jacopo C. DiFrancesco, Raffaella Milanesi, Giulia Campostrini, Barbara Castellotti, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Ilaria Rivolta, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco

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The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced l... by Stefano Camnasio, Alessia Delli Carri, Angelo Lombardo, Iwona Grad, Caterina Mariotti, Alessia Castucci, Björn Rozell, Pietro Lo Riso, Valentina Castiglioni, Chiara Zuccato, Christelle Rochon, Yasuhiro Takashima, Giuseppe Diaferia, Ida Biunno, Cinzia Gellera, Marisa Jaconi, Austin Smith, Outi Hovatta, Luigi Naldini, Stefano Di Donato, Anis Feki, Elena Cattaneo

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Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects by Alberto Brusati, Alberto Brusati, Antonia Ratti, Antonia Ratti, Viviana Pensato, Silvia Peverelli, Davide Gentilini, Davide Gentilini, Eleonora Dalla Bella, Marta Nice Sorce, Megi Meneri, Megi Meneri, Delia Gagliardi, Stefania Corti, Stefania Corti, Cinzia Gellera, Giuseppe Lauria Pinter, Giuseppe Lauria Pinter, Nicola Ticozzi, Nicola Ticozzi, Vincenzo Silani, Vincenzo Silani

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A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability by Giulia Campostrini, Jacopo C. DiFrancesco, Jacopo C. DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco

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Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients by Claudia Malacarne, Mariarita Galbiati, Eleonora Giagnorio, Paola Cavalcante, Franco Salerno, Francesca Andreetta, Cinza Cagnoli, Michela Taiana, Monica Nizzardo, Stefania Corti, Viviana Pensato, Anna Venerando, Cinzia Gellera, Silvia Fenu, Davide Pareyson, Riccardo Masson, Lorenzo Maggi, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Pia Bernasconi, Angelo Poletti, Silvia Bonanno, Stefania Marcuzzo

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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia by Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair

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