Resultados de búsqueda - Laura Canafoglia

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  1. 1
    Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

    Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation por Laura Canafoglia, Michela Morbin, V. Scaioli, Davide Pareyson, Ludovico D’Incerti, Valeria Fugnanesi, Fabrizio Tagliavini, Samuel F. Berkovic, Silvana Franceschetti

    Publicado 2014
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  2. 2
    Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by<i>SCARB2</i>mutations

    Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by<i>SCARB2</i>mutations por Guido Rubboli, Silvana Franceschetti, Samuel F. Berkovic, Laura Canafoglia, Antonio Gambardella, Leanne M. Dibbens, P. Riguzzi, C. Campieri, Adriana Magaudda, C. A. Tassinari, Roberto Michelucci

    Publicado 2011
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  3. 3
    Focal epilepsies in adult patients attending two epilepsy centers: Classification of drug‐resistance, assessment of risk factors, and usefulness of “new” antiepileptic drugs

    Focal epilepsies in adult patients attending two epilepsy centers: Classification of drug‐resistance, assessment of risk factors, and usefulness of “new” antiepileptic drugs por Isabella Gilioli, Aglaia Vignoli, Elisa Visani, Marina Casazza, Laura Canafoglia, Valentina Chiesa, Elena Gardella, Francesca La Briola, Ferruccio Panzica, G. Avanzini, Maria Paola Canevini, Silvana Franceschetti, S. Binelli

    Publicado 2012
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  4. 4
    Treatment with metformin in twelve patients with Lafora disease

    Treatment with metformin in twelve patients with Lafora disease por Francesca Bisulli, Lorenzo Muccioli, G. D’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, P. Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper

    Publicado 2019
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  5. 5
    Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations

    Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations por Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, S. Binelli, V. Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F. Berkovic, Silvana Franceschetti

    Publicado 2015
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  6. 6
    Cystatin B is essential for proliferation and interneuron migration in individuals with <scp>EPM</scp> 1 epilepsy

    Cystatin B is essential for proliferation and interneuron migration in individuals with <scp>EPM</scp> 1 epilepsy por Francesco Di Matteo, Fabrizia Pipicelli, Christina Kyrousi, Isabella Tovecci, Eduardo Penna, Marianna Crispino, Angela Chambery, Rosita Russo, Ane Cristina Ayo-Martin, Martina Giordano, Anke Hoffmann, Emilio Ciusani, Laura Canafoglia, Magdalena Götz, Rossella Di Giaimo, Silvia Cappello

    Publicado 2020
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  7. 7
    Progressive myoclonic epilepsies

    Progressive myoclonic epilepsies por Silvana Franceschetti, Roberto Michelucci, Laura Canafoglia, Pasquale Striano, Antonio Gambardella, Adriana Magaudda, Paolo Tinuper, Angela La Neve, Edoardo Ferlazzo, Giuseppe Gobbi, Anna Teresa Giallonardo, Giuseppe Capovilla, Elisa Visani, Ferruccio Panzica, G. Avanzini, C. A. Tassinari, Amedeo Bianchi, Federico Zara

    Publicado 2014
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  8. 8
    Myoclonus: Differential diagnosis and current management

    Myoclonus: Differential diagnosis and current management por Antonella Riva, Gianluca D’Onofrio, Edoardo Ferlazzo, Angelo Pascarella, Elena Pasini, Silvana Franceschetti, Ferruccio Panzica, Laura Canafoglia, Aglaia Vignoli, Antonietta Coppola, Valeria Badioni, Francesca Beccaria, Angelo Labate, Antonio Gambardella, Antonino Romeo, Giuseppe Capovilla, Roberto Michelucci, Pasquale Striano, Vincenzo Belcastro

    Publicado 2024
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  9. 9
    Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

    Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease por Silvana Franceschetti, Antonio Gambardella, Laura Canafoglia, Pasquale Striano, Hannes Lohi, Elena Di Gennaro, Leonarda Ianzano, Pierangelo Veggiotti, Vito Sofia, Roberto Biondi, Salvatore Striano, Cinzia Gellera, Grazia Annesi, Francesca Madia, Donatella Civitelli, Francesca E. Rocca, Aldo Quattrone, G. Avanzini, Berge A. Minassian, Federico Zara

    Publicado 2006
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  10. 10
    Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

    Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage por Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara Mole, John F. Staropoli, Katherine B. Sims, Jada Lewis, Wen-Lang Lin, Dennis W. Dickson, Hans‐Henrik M. Dahl, Melanie Bahlo, Samuel F. Berkovic

    Publicado 2012
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  11. 11
    A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

    A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability por 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

    Publicado 2018
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  12. 12
    Early-onset phenotype of bi-allelic <i>GRN</i> mutations

    Early-onset phenotype of bi-allelic <i>GRN</i> mutations por Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. França, Birgit Assmann, Matias Wagner, Laura Canafoglia, Silvana Franceschetti, Giacomina Rossi, Isabel Santana, Carmo Macário, Maria Rosário Almeida, Mahesh Kamate, Sumit Parikh, Houda Zghal Elloumi, David Murphy, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden

    Publicado 2020
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  13. 13
    Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

    Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 por Todor Arsov, Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul A. Mullen, Frédérick Andermann, Sara Mole, Melanie Bahlo, Samuel F. Berkovic

    Publicado 2011
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  14. 14
    Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

    Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis por Katherine R. Smith, H H Dahl, Laura Canafoglia, E. Andermann, John A. Damiano, Michela Morbin, Amalia C. Bruni, Giorgio Giaccone, Patrick Cossette, Paul Säftig, Joachim Grötzinger, Michael Schwake, Frédérick Andermann, John F. Staropoli, Katherine B. Sims, Sara Mole, Silvana Franceschetti, Nora Alexander, Jonathan D. Cooper, Harold A. Chapman, Stirling Carpenter, Samuel F. Berkovic, Melanie Bahlo

    Publicado 2013
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  15. 15
    Adjunctive cenobamate in people with focal onset seizures: Insights from the Italian Expanded Access Program

    Adjunctive cenobamate in people with focal onset seizures: Insights from the Italian Expanded Access Program por Roberta Roberti, Giovanni Assenza, Francesca Bisulli, Giovanni Boero, Laura Canafoglia, Valentina Chiesa, Carlo Di Bonaventura, Giancarlo Di Gennaro, Maurizio Elia, Edoardo Ferlazzo, Alfonso Giordano, Angela La Neve, Claudio Liguori, Stefano Meletti, Francesca Felicia Operto, Nicola Pietrafusa, Monica Puligheddu, Patrizia Pulitano, Eleonora Rosati, Ilaria Sammarra, Elena Tartara, Giampaolo Vatti, Flavio Villani, Emilio Russo, Simona Lattanzi

    Publicado 2024
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  16. 16
    Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

    Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) por Samuel F. Berkovic, John F. Staropoli, Stirling Carpenter, Karen Oliver, Stanislav Kmoch, Glenn Anderson, John A. Damiano, Michael S. Hildebrand, Katherine B. Sims, Susan L. Cotman, Melanie Bahlo, Katherine R. Smith, Maxime Cadieux‐Dion, Patrick Cossette, Ivana Jedličková, Anna Přistoupilová, Sara Mole, Umberto Aguglia, Danielle M Andrade, Francesca Bisulli, Sylvia Boesch, Laura Canafoglia, Hans‐Henrik M. Dahl, Rainer Ehling, Silvana Franceschetti, Antonio Gambardella, Michael Gonzales, Renate Kalnins, Anthony E. Lang, Eliza Lewandowska, Laura Licchetta, Tiago Mestre, Michela Morbin, Chantal F. Morel, Klary E. Niezen‐Koning, Filippo M. Santorelli, Alessandro Simonati, Paolo Tinuper

    Publicado 2016
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  17. 17
    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes por Carolina Courage, Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betül Baykan, Christian Brandt, Carlo Di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, P. Riguzzi, Angelo Labate, Alessandro Filla, Anna Teresa Giallonardo, Géza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos D. Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna‐Elina Lehesjoki

    Publicado 2021
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  18. 18
    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy por Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Brice Kauffmann, Michael Duchowny, Rikke S. Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben‐Zeev, Kaitlin E. Samocha, Mark J. Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki

    Publicado 2014
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  19. 19
    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond por Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta, Daniel Bauer, Renske Oegema, Caroline Nava, Elena Parrini, Davide Mei, Catherine Mercer, Radhika Dhamija, Chelsea Chambers, Christine Coubes, Julien Thévenon, Paul Kuentz, Sophie Julia, Laurent Pasquier, Christèle Dubourg, Wilfrid Carré, Anna Rosati, Federico Melani, Tiziana Pisano, Maria Giardino, A. Micheil Innes, Yves Alembik, Sophie Scheidecker, Manuela M. Santos, Sónia Figueiroa, Cristina Garrido, Carlo Fusco, Daniele Frattini, Carlotta Spagnoli, Anna Binda, Tiziana Granata, Francesca Ragona, Elena Freri, Silvana Franceschetti, Laura Canafoglia, Barbara Castellotti, Cinzia Gellera, Raffaella Milanesi, Maria Margherita Mancardi, Damien R Clark, Fernando Kok, Katherine L. Helbig, Shoji Ichikawa, Laurie S. Sadler, Jana Neupauerová, Petra Laššuthová, Katalin Štěrbová, Annick Laridon, Eva H. Brilstra, Bobby P.C. Koeleman, Johannes R. Lemke, Federico Zara, Pasquale Striano, Julie Soblet, Guillaume Smits, Nicolas Deconinck, Andrea Barbuti, Dario DiFrancesco, Eric LeGuern, Renzo Guerrini, Bina Santoro, Kay Hamacher, Gerhard Thiel, Anna Moroni, Jacopo C. DiFrancesco, Christel Depienne

    Publicado 2018
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  20. 20
    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 por Mark Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel T. Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron M. Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid M. Regan, Douglas E. Crompton, Anne‐Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin A. Smith, Alfredo Berardelli, Renée Carroll, Alison Gardner, Kathryn Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Édouard Hirsch, Eric LeGuern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A.J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gécz

    Publicado 2019
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