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Novel mutations in the L1CAM gene support the complexity of L1 syndrome. [electronic resource] by
- Bertolin, Cinzia
- Boaretto, Francesca
- Barbon, Giovanni
- Salviati, Leonardo
- Lapi, Elisabetta
- Divizia, Maria Teresa
- Garavelli, Livia
- Occhi, Gianluca
- Vazza, Giovanni
- Mostacciuolo, Maria Luisa
Producer: 20101021
In:
Journal of the neurological sciences vol. 294
Availability: No items available.
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5.
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Multiple acyl-COA dehydrogenase deficiency in elderly carriers. [electronic resource] by
- Macchione, Francesco
- Salviati, Leonardo
- Bordugo, Andrea
- Vincenzi, Monica
- Camilot, Marta
- Teofoli, Francesca
- Pancheri, Elia
- Zordan, Roberta
- Bertolin, Cinzia
- Rossi, Silvia
- Vattemi, Gaetano
- Tonin, Paola
Producer: 20210208
In:
Journal of neurology vol. 267
Availability: No items available.
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6.
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Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease. [electronic resource] by
- Spinelli, Edoardo G
- Agosta, Federica
- Ferraro, Pilar M
- Querin, Giorgia
- Riva, Nilo
- Bertolin, Cinzia
- Martinelli, Ilaria
- Lunetta, Christian
- Fontana, Andrea
- Sorarù, Gianni
- Filippi, Massimo
Producer: 20200330
In:
Human brain mapping vol. 40
Availability: No items available.
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7.
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Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants. [electronic resource] by
- Bertolin, Cinzia
- D'Ascenzo, Carla
- Querin, Giorgia
- Gaiani, Alessandra
- Boaretto, Francesca
- Salvoro, Cecilia
- Vazza, Giovanni
- Angelini, Corrado
- Cagnin, Annachiara
- Pegoraro, Elena
- Sorarù, Gianni
- Mostacciuolo, Maria Luisa
Producer: 20141006
In:
Neurobiology of aging vol. 35
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8.
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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. [electronic resource] by
- Semplicini, Claudio
- Vissing, John
- Dahlqvist, Julia R
- Stojkovic, Tanya
- Bello, Luca
- Witting, Nanna
- Duno, Morten
- Leturcq, France
- Bertolin, Cinzia
- D'Ambrosio, Paola
- Eymard, Bruno
- Angelini, Corrado
- Politano, Luisa
- Laforêt, Pascal
- Pegoraro, Elena
Producer: 20150706
In:
Neurology vol. 84
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9.
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Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy. [electronic resource] by
- Lombardi, Vittoria
- Querin, Giorgia
- Ziff, Oliver J
- Zampedri, Luca
- Martinelli, Ilaria
- Heller, Carolin
- Foiani, Martha
- Bertolin, Cinzia
- Lu, Ching-Hua
- Malik, Bilal
- Allen, Kezia
- Rinaldi, Carlo
- Zetterberg, Henrik
- Heslegrave, Amanda
- Greensmith, Linda
- Hanna, Michael
- Soraru, Gianni
- Malaspina, Andrea
- Fratta, Pietro
Producer: 20191211
In:
Neurology vol. 92
Availability: No items available.
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10.
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The clinical spectrum of [electronic resource] by
- Semplicini, Claudio
- Bertolin, Cinzia
- Bello, Luca
- Pantic, Boris
- Guidolin, Francesca
- Vianello, Sara
- Catapano, Francesco
- Colombo, Irene
- Moggio, Maurizio
- Gavassini, Bruno F
- Cenacchi, Giovanna
- Papa, Valentina
- Previtero, Marco
- Calore, Chiara
- Sorarù, Gianni
- Minervini, Giovanni
- Tosatto, Silvio C E
- Stramare, Roberto
- Pegoraro, Elena
Producer: 20190827
In:
Neurology vol. 91
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11.
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Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis. [electronic resource] by
- Calini, Daniela
- Corrado, Lucia
- Del Bo, Roberto
- Gagliardi, Stella
- Pensato, Viviana
- Verde, Federico
- Corti, Stefania
- Mazzini, Letizia
- Milani, Pamela
- Castellotti, Barbara
- Bertolin, Cinzia
- Sorarù, Gianni
- Cereda, Cristina
- Comi, Giacomo P
- D'Alfonso, Sandra
- Gellera, Cinzia
- Ticozzi, Nicola
- Landers, John E
- Ratti, Antonia
- Silani, Vincenzo
Producer: 20140305
In:
Neurobiology of aging vol. 34
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12.
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Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. [electronic resource] by
- Querin, Giorgia
- Bertolin, Cinzia
- Da Re, Elisa
- Volpe, Marco
- Zara, Gabriella
- Pegoraro, Elena
- Caretta, Nicola
- Foresta, Carlo
- Silvano, Maria
- Corrado, Domenico
- Iafrate, Massimo
- Angelini, Lorenzo
- Sartori, Leonardo
- Pennuto, Maria
- Gaiani, Alessandra
- Bello, Luca
- Semplicini, Claudio
- Pareyson, Davide
- Silani, Vincenzo
- Ermani, Mario
- Ferlin, Alberto
- Sorarù, Gianni
Producer: 20170525
In:
Journal of neurology, neurosurgery, and psychiatry vol. 87
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13.
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Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. [electronic resource] by
- Devoy, Anny
- Kalmar, Bernadett
- Stewart, Michelle
- Park, Heesoon
- Burke, Beverley
- Noy, Suzanna J
- Redhead, Yushi
- Humphrey, Jack
- Lo, Kitty
- Jaeger, Julian
- Mejia Maza, Alan
- Sivakumar, Prasanth
- Bertolin, Cinzia
- Soraru, Gianni
- Plagnol, Vincent
- Greensmith, Linda
- Acevedo Arozena, Abraham
- Isaacs, Adrian M
- Davies, Benjamin
- Fratta, Pietro
- Fisher, Elizabeth M C
Producer: 20171107
In:
Brain : a journal of neurology vol. 140
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14.
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TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations. [electronic resource] by
- Pensato, Viviana
- Tiloca, Cinzia
- Corrado, Lucia
- Bertolin, Cinzia
- Sardone, Valentina
- Del Bo, Roberto
- Calini, Daniela
- Mandrioli, Jessica
- Lauria, Giuseppe
- Mazzini, Letizia
- Querin, Giorgia
- Ceroni, Mauro
- Cantello, Roberto
- Corti, Stefania
- Castellotti, Barbara
- Soldà, Giulia
- Duga, Stefano
- Comi, Giacomo P
- Cereda, Cristina
- Sorarù, Gianni
- D'Alfonso, Sandra
- Taroni, Franco
- Shaw, Christopher E
- Landers, John E
- Ticozzi, Nicola
- Ratti, Antonia
- Gellera, Cinzia
- Silani, Vincenzo
Producer: 20160314
In:
Journal of neurology vol. 262
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15.
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Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. [electronic resource] by
- Tiloca, Cinzia
- Ticozzi, Nicola
- Pensato, Viviana
- Corrado, Lucia
- Del Bo, Roberto
- Bertolin, Cinzia
- Fenoglio, Chiara
- Gagliardi, Stella
- Calini, Daniela
- Lauria, Giuseppe
- Castellotti, Barbara
- Bagarotti, Alessandra
- Corti, Stefania
- Galimberti, Daniela
- Cagnin, Annachiara
- Gabelli, Carlo
- Ranieri, Michela
- Ceroni, Mauro
- Siciliano, Gabriele
- Mazzini, Letizia
- Cereda, Cristina
- Scarpini, Elio
- Sorarù, Gianni
- Comi, Giacomo P
- D'Alfonso, Sandra
- Gellera, Cinzia
- Ratti, Antonia
- Landers, John E
- Silani, Vincenzo
Producer: 20130813
In:
Neurobiology of aging vol. 34
Availability: No items available.
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16.
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. [electronic resource] by
- van Rheenen, Wouter
- Shatunov, Aleksey
- Dekker, Annelot M
- McLaughlin, Russell L
- Diekstra, Frank P
- Pulit, Sara L
- van der Spek, Rick A A
- Võsa, Urmo
- de Jong, Simone
- Robinson, Matthew R
- Yang, Jian
- Fogh, Isabella
- van Doormaal, Perry Tc
- Tazelaar, Gijs H P
- Koppers, Max
- Blokhuis, Anna M
- Sproviero, William
- Jones, Ashley R
- Kenna, Kevin P
- van Eijk, Kristel R
- Harschnitz, Oliver
- Schellevis, Raymond D
- Brands, William J
- Medic, Jelena
- Menelaou, Androniki
- Vajda, Alice
- Ticozzi, Nicola
- Lin, Kuang
- Rogelj, Boris
- Vrabec, Katarina
- Ravnik-Glavač, Metka
- Koritnik, Blaž
- Zidar, Janez
- Leonardis, Lea
- Grošelj, Leja Dolenc
- Millecamps, Stéphanie
- Salachas, François
- Meininger, Vincent
- de Carvalho, Mamede
- Pinto, Susana
- Mora, Jesus S
- Rojas-García, Ricardo
- Polak, Meraida
- Chandran, Siddharthan
- Colville, Shuna
- Swingler, Robert
- Morrison, Karen E
- Shaw, Pamela J
- Hardy, John
- Orrell, Richard W
- Pittman, Alan
- Sidle, Katie
- Fratta, Pietro
- Malaspina, Andrea
- Topp, Simon
- Petri, Susanne
- Abdulla, Susanne
- Drepper, Carsten
- Sendtner, Michael
- Meyer, Thomas
- Ophoff, Roel A
- Staats, Kim A
- Wiedau-Pazos, Martina
- Lomen-Hoerth, Catherine
- Van Deerlin, Vivianna M
- Trojanowski, John Q
- Elman, Lauren
- McCluskey, Leo
- Basak, A Nazli
- Tunca, Ceren
- Hamzeiy, Hamid
- Parman, Yesim
- Meitinger, Thomas
- Lichtner, Peter
- Radivojkov-Blagojevic, Milena
- Andres, Christian R
- Maurel, Cindy
- Bensimon, Gilbert
- Landwehrmeyer, Bernhard
- Brice, Alexis
- Payan, Christine A M
- Saker-Delye, Safaa
- Dürr, Alexandra
- Wood, Nicholas W
- Tittmann, Lukas
- Lieb, Wolfgang
- Franke, Andre
- Rietschel, Marcella
- Cichon, Sven
- Nöthen, Markus M
- Amouyel, Philippe
- Tzourio, Christophe
- Dartigues, Jean-François
- Uitterlinden, Andre G
- Rivadeneira, Fernando
- Estrada, Karol
- Hofman, Albert
- Curtis, Charles
- Blauw, Hylke M
- van der Kooi, Anneke J
- de Visser, Marianne
- Goris, An
- Weber, Markus
- Shaw, Christopher E
- Smith, Bradley N
- Pansarasa, Orietta
- Cereda, Cristina
- Del Bo, Roberto
- Comi, Giacomo P
- D'Alfonso, Sandra
- Bertolin, Cinzia
- Sorarù, Gianni
- Mazzini, Letizia
- Pensato, Viviana
- Gellera, Cinzia
- Tiloca, Cinzia
- Ratti, Antonia
- Calvo, Andrea
- Moglia, Cristina
- Brunetti, Maura
- Arcuti, Simona
- Capozzo, Rosa
- Zecca, Chiara
- Lunetta, Christian
- Penco, Silvana
- Riva, Nilo
- Padovani, Alessandro
- Filosto, Massimiliano
- Muller, Bernard
- Stuit, Robbert Jan
- Blair, Ian
- Zhang, Katharine
- McCann, Emily P
- Fifita, Jennifer A
- Nicholson, Garth A
- Rowe, Dominic B
- Pamphlett, Roger
- Kiernan, Matthew C
- Grosskreutz, Julian
- Witte, Otto W
- Ringer, Thomas
- Prell, Tino
- Stubendorff, Beatrice
- Kurth, Ingo
- Hübner, Christian A
- Leigh, P Nigel
- Casale, Federico
- Chio, Adriano
- Beghi, Ettore
- Pupillo, Elisabetta
- Tortelli, Rosanna
- Logroscino, Giancarlo
- Powell, John
- Ludolph, Albert C
- Weishaupt, Jochen H
- Robberecht, Wim
- Van Damme, Philip
- Franke, Lude
- Pers, Tune H
- Brown, Robert H
- Glass, Jonathan D
- Landers, John E
- Hardiman, Orla
- Andersen, Peter M
- Corcia, Philippe
- Vourc'h, Patrick
- Silani, Vincenzo
- Wray, Naomi R
- Visscher, Peter M
- de Bakker, Paul I W
- van Es, Michael A
- Pasterkamp, R Jeroen
- Lewis, Cathryn M
- Breen, Gerome
- Al-Chalabi, Ammar
- van den Berg, Leonard H
- Veldink, Jan H
Producer: 20170907
In:
Nature genetics vol. 48
Availability: No items available.
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