Zoekresultaten - Patrizia D’Adamo
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1
Critical importance of RAB proteins for synaptic function door Maria Lidia Mignogna, Patrizia D’Adamo
Gepubliceerd in 2017Revisão -
2
A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males door Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D’Adamo, Koenraad Denvriendt, Jean‐Pierre Fryns, Daniela Toniolo, Alessandra Renieri
Gepubliceerd in 2000Artigo -
3
Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia door Alan Zanardi, Antonio Conti, M. Cremonesi, Patrizia D’Adamo, Enrica Gilberti, Pietro Apostoli, Carlo Vittorio Cannistraci, Alberto Piperno, Samuel David, Massimo Alessio
Gepubliceerd in 2017Artigo -
4
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder door Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea, Patrizia D’Adamo, Elena Bonora, Piero Parchi, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini
Gepubliceerd in 2014Artigo -
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6
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility door Fabrizia Claudia Guarnieri, Davide Pozzi, Andrea Raimondi, Riccardo Fesce, Marco Valente, Vincenza S Delvecchio, Hilde Van Esch, Michela Matteoli, Fabio Benfenati, Patrizia D’Adamo, Flavia Valtorta
Gepubliceerd in 2017Artigo -
7
Niacin‐mediated Tace activation ameliorates <scp>CMT</scp> neuropathies with focal hypermyelination door Alessandra Bolino, Françoise Piguet, Valeria Alberizzi, Marta Pellegatta, Cristina Rivellini, Marta Guerrero‐Valero, Roberta Noseda, Chiara Brombin, Alessandro Nonis, Patrizia D’Adamo, Carla Taveggia, Stefano C. Previtali
Gepubliceerd in 2016Artigo -
8
Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome door Nicholas Valassina, Simone Brusco, Alessia Salamone, Linda Serra, Mirko Luoni, Serena Giannelli, Simone Bido, Luca Massimino, Federica Ungaro, Pietro Giuseppe Mazzara, Patrizia D’Adamo, Gabriele Lignani, Vania Broccoli, Gaia Colasante
Gepubliceerd in 2022Artigo -
9
Reactive astrocytes and Wnt/β-catenin signaling link nigrostriatal injury to repair in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model of Parkinson's disease door Francesca L’Episcopo, Cataldo Tirolo, Nunzio Testa, Salvatore Caniglia, Maria C. Morale, Chiara Cossetti, Patrizia D’Adamo, Elisabetta Zardini, Laura Andreoni, Adaoha Ihekwaba, Pier Andrea Serra, Diego Franciotta, Gianvito Martino, Stefano Pluchino, Bianca Marchetti
Gepubliceerd in 2010Artigo -
10
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition door Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, Francesca Fanelli, Francesco Raimondi, Lisa Mapelli, Silvia Bassani, Huaqiang Fang, Eelco van Anken, Massimo Alessio, Maria Passafaro, Silvia Gatti, José A. Esteban, Richard L. Huganir, Patrizia D’Adamo
Gepubliceerd in 2015Artigo -
11
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice door Patrizia D’Adamo, Hans Welzl, Stavros Papadimitriou, Marina Raffaele di Barletta, Cecilia Tiveron, Laura Tatangelo, Laura Pozzi, Paul F. Chapman, Simon G. Knevett, Mark Ramsay, Flavia Valtorta, Chiara Leoni, Andrea Menegon, David P Wolfer, Hans Lipp, Daniela Toniolo
Gepubliceerd in 2002Artigo -
12
The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies door Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon, Emiel A. M. Janssen, Silvia Bione, Pieter A. Bolhuis, P. G. Barth, Meredith Wilson, Eric Haan, Karen Helen Örstavik, Michael A. Patton, Andrew Green, Enrico Zammarchi, Maria Alice Donati, Daniela Toniolo
Gepubliceerd in 1997Artigo -
13
Synaptic dysfunction, memory deficits and hippocampal atrophy due to ablation of mitochondrial fission in adult forebrain neurons door Bjoern Oettinghaus, Jan M. Schulz, Lisa Michelle Restelli, Maria Licci, Claudia Savoia, Alexander Schmidt, Karen Schmitt, Amandine Grimm, Lorenzo Morè, Juergen Hench, Markus Tolnay, Anne Eckert, Patrizia D’Adamo, Paul Franken, Naotada Ishihara, K. Mihara, Josef Bischofberger, Luca Scorrano, Stephan Frank
Gepubliceerd in 2015Artigo -
14
Subventricular zone neural progenitors protect striatal neurons from glutamatergic excitotoxicity door Erica Butti, Marco Bacigaluppi, Silvia Rossi, Marco Cambiaghi, Monica Bari, Arantxa Cebrián‐Silla, Elena Brambilla, Alessandra Musella, Roberta De Ceglia, Luis Teneud, Valentina De Chiara, Patrizia D’Adamo, José Manuel García‐Verdugo, Gıancarlo Comı, Luca Muzio, Angelo Quattrini, Letizia Leocani, Mauro Maccarrone, Diego Centonze, Gianvito Martino
Gepubliceerd in 2012Artigo -
15
Administration of aerosolized SARS-CoV-2 to K18-hACE2 mice uncouples respiratory infection from fatal neuroinvasion door Valeria Fumagalli, Micol Ravà, Davide Marotta, Pietro Di Lucia, Chiara Laura, Eleonora Sala, Marta Grillo, Elisa Bono, Leonardo Giustini, Chiara Perucchini, Marta Mainetti, Alessandro Sessa, José Manuel García-Manteiga, Lorena Donnici, Lara Manganaro, Serena Delbue, Vania Broccoli, Raffaele De Francesco, Patrizia D’Adamo, Mirela Kuka, Luca G. Guidotti, Matteo Iannacone
Gepubliceerd in 2022Artigo -
16
Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly door Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, A. Sirri, Salvatore Carrabino, Errico D’Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans‐Hilger Ropers, Andreas Tzschach, Vera M. Kalscheuer, Barbara Oehl‐Jaschkowitz, Cindy Skinner, Charles E. Schwartz, Jozef Gécz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, Arjan P.M. de Brouwer, Daniela Toniolo, Patrizia D’Adamo
Gepubliceerd in 2010Artigo -
17
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients door Aisha V. Sauer, Raisa Jofra Hernández, Francesca Fumagalli, Veronica Bianchi, Pietro Luigi Poliani, Chiara Dallatomasina, Elisa Riboni, Letterio S. Politi, Antonella Tabucchi, Filippo Carlucci, Miriam Casiraghi, Nicola Carriglio, Manuela Cominelli, Carlo Alberto Forcellini, Federica Barzaghi, Francesca Ferrua, Fabio Minicucci, S. Medaglini, Letizia Leocani, Giancarlo la Marca, Lucia Dora Notarangelo, Chiara Azzari, Cristoforo Comi, Cristina Baldoli, Sabrina Canale, Maria Sessa, Patrizia D’Adamo, Alessandro Aiuti
Gepubliceerd in 2017Artigo -
18
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology door Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope, Kirk J. Hogan, Ronald G. Gregg, Catherine J. Bromhead, David S. Wargowski, Christopher Lawrence, Paul A. James, Andrew Churchyard, Yujing Gao, Dean Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley P.L. Marsh, Maria Lidia Mignogna, Susan J. Hayflick, Richard J. Leventer, Martin B. Delatycki, George D. Mellick, Vera M. Kalscheuer, Patrizia D’Adamo, Melanie Bahlo, David J. Amor, Paul J. Lockhart
Gepubliceerd in 2014Artigo
Zoekinstrumenten:
Gerelateerde Onderwerpen
Biology
Medicine
Gene
Neuroscience
Genetics
Cell biology
Biochemistry
Mutation
Disease
Internal medicine
Central nervous system
GTPase
Phenotype
Rab
Missense mutation
Pathology
Receptor
Chemistry
Endocrinology
Endoplasmic reticulum
Forebrain
Glutamate receptor
Golgi apparatus
Hippocampal formation
Immunology
Membrane
Neurodevelopmental disorder
Neurotransmission
Parkinson's disease
Pathogenesis