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1-alkyl-2-acetylglycerophosphocholine esterase - genetics (1) 1
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adult; animals; cos cells; cercopithecus aethiops; child; family; female; genetic predisposition to disease; hela cells; hemiplegia; high-throughput nucleotide sequencing; humans; male; models, biological; pedigree; protein structure, secondary; sodium-potassium-exchanging atpase; mutation; genetics (1) 1
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by Panagiotakaki, Eleni and De Grandis, Elisa and Stagnaro, Michela and Heinzen, Erin L and Fons, Carmen and Sisodiya, Sanjay and De Vries, Boukje and Goubau, Christophe and Weckhuysen, Sarah and Kemlink, David and Scheffer, Ingrid and Lesca, Gaëtan and Rabilloud, Muriel and Klich, Amna and Ramirez-Camacho, Alia and Ulate-Campos, Adriana and Campistol, Jaume and Giannotta, Melania and Moutard, Marie-Laure and Doummar, Diane and Hubsch-Bonneaud, Cecile and Jaffer, Fatima and Cross, Helen and Gurrieri, Fiorella and Tiziano, Danilo and Nevsimalova, Sona and Nicole, Sophie and Neville, Brian and Van Den Maagdenberg, Arn M. J. M and Mikati, Mohamad and Goldstein, David B and Vavassori, Rosaria and Arzimanoglou, Alexis and Bassi, Maria Teresa and Borgatti, Renato and Cernetti, Roberta and Di Rosa, Gabriella and Franchini, Filippo and Gambardella, Antonio and Giacanelli, Manlio and Gobbi, Giuseppe and Granata, Tiziana and Guerrini, Renzo and Incorpora, Gemma and Nardocci, Nardo and Neri, Giovanni and Ragona, Francesca and Santucci, Margherita and Sartori, Stefano and Veneselli, Edvige and Vigevano, Federico and Zucca, Claudio and Aicardi, J and An, I and Arbues, A.S and Arzimanoglou, A and Bahi-Buisson, N and Barthez, M.-A and Billette de Villemeur, T and Bourgeois, M and Bru, M and Chabrol, B and Chaigne, D and Chaunu, M.P and Chaunu, C and Cournelle, A.M and Davoine, C.-S and De St Martin, A and Deny, B and Desguerres, I and Des Portes, V and Doummar, D and Dulac, O and Dusser, A and Gerard, M and Gitiaux, C and Godet Kiesel, I and Gokben, S and Goutieres, F and Guerrin, M.-H and Heron-Longe, B and Hubsch-Bonneaud, C and Hully, M and Husson, M and Husson, Ch and Kaminska, A and Laroche, C and Lazaro, L and Lepine, A and Magy, L and Marchal, C and Michel, J and Milh, M and Motte, J and Moutard, M.L and Napuri, S and Nassogne, M.C and Neau, J.P and Nicole, S and Panagiotakaki, Eleni and ... and IBAHC Consortium and French AHC Consortium and Int AHC Consortium and International AHC Consortium and Italian IBAHC Consortium and The French AHC Consortium and The Italian IBAHC Consortium and The International AHC Consortium
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1, p. 123
Journal Article
Journal Article
by Heinzen, Erin L and Swoboda, Kathryn J and Hitomi, Yuki and Gurrieri, Fiorella and De Vries, Boukje and Tiziano, F. Danilo and Fontaine, Bertrand and Walley, Nicole M and Heavin, Sinéad and Panagiotakaki, Eleni and Fiori, Stefania and Abiusi, Emanuela and Di Pietro, Lorena and Sweney, Matthew T and Newcomb, Tara M and Viollet, Louis and Huff, Chad and Jorde, Lynn B and Reyna, Sandra P and Murphy, Kelley J and Shianna, Kevin V and Gumbs, Curtis E and Little, Latasha and Silver, Kenneth and Ptáček, Louis J and Haan, Joost and Ferrari, Michel D and Bye, Ann M and Herkes, Geoffrey K and Whitelaw, Charlotte M and Webb, David and Lynch, Bryan J and Uldall, Peter and King, Mary D and Scheffer, Ingrid E and Neri, Giovanni and Arzimanoglou, Alexis and Van Den Maagdenberg, Arn M.J.M and Sisodiya, Sanjay M and Mikati, Mohamad A and Goldstein, David B and Koelewijn, Stephany and Kamphorst, Jessica and Geilenkirchen, Marije and Pelzer, Nadine and Ferrari, Michel and Van Den Maagdenberg, Arn and Zucca, Claudio and Franchini, Filippo and Vavassori, Rosaria and Giannotta, Melania and Gobbi, Giuseppe and Granata, Tiziana and Nardocci, Nardo and De Grandis, Elisa and Veneselli, Edvige and Stagnaro, Michela and Vigevano, Federico and Oechsler, Claudia and Nicole, Sophie and Ninan, Miriam and Neville, Brian and Ebinger, Friedrich and Fons, Carmen and Campistol, Jaume and Kemlink, David and Nevsimalova, Sona and Laan, Laura and Peeters-Scholte, Cacha and Casaer, Paul and Casari, Giorgio and Sange, Guenter and Spiel, Georg and Boneschi, Filippo Martinelli and Bassi, Maria Teresa and Schyns, Tsveta and Crawley, Francis and Poncelin, Dominique and European Alternating Hemiplegia and European Network Res Alternating and Biobanca Registro Clinico and European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium and European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium and Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1030 - 1034
Journal Article
Neurology, ISSN 0028-3878, 06/2014, Volume 82, Issue 22, pp. 2037 - 2038
Mutations in the ATP1A3 gene, which encodes the alpha sub(3) subunit of sodium-potassium ATPase, are related to rapid-onset dystonia-parkinsonism (RDP) and,... 
ALTERNATING HEMIPLEGIA | CLINICAL NEUROLOGY | MUTATIONS | Dystonic Disorders - drug therapy | Flunarizine - pharmacology | Dystonic Disorders - genetics | Follow-Up Studies | Chorea - drug therapy | Humans | Adolescent | Chorea - etiology | Female | Treatment Outcome | Chorea - genetics | Dystonic Disorders - complications
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 03/2018, Volume 22, Issue 2, pp. 264 - 271
Journal Article
Brain, ISSN 0006-8950, 10/2015, Volume 138, Issue 10, pp. 2859 - 2874
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 7/2013, Volume 28, Issue 7, pp. 863 - 866
Alternating hemiplegia of childhood is a rare, predominantly sporadic disorder. Diagnosis is clinical, and little is known about genetics. Glucose transporter... 
paroxysmal | movement disorders | alternating hemiplegia | glucose transporter 1 | GLUT1 | GENE | NO MUTATIONS | PEDIATRICS | DEFICIENCY | CLINICAL NEUROLOGY | Humans | Child, Preschool | Male | Mutation - genetics | Young Adult | Glucose Transporter Type 1 - genetics | DNA Mutational Analysis | Hemiplegia - genetics | Adolescent | Adult | Female | Italy | Child
Journal Article
by Alessandrini, Ester Rita and Faustini, Annunziata and Chiusolo, Monica and Stafoggia, Massimo and Gandini, Martina and Demaria, Moreno and Antonelli, Antonello and Arena, Pasquale and Biggeri, Annibale and Canova, Cristina and Casale, Giovanna and Cernigliaro, Achille and Garrone, Elsa and Gherardi, Bianca and Gianicolo, Emilio A.L and Giannini, Simone and Iuzzolino, Claudia and Lauriola, Paolo and Mariottini, Mauro and Pasetti, Paolo and Randi, Giorgia and Ranzi, Andrea and Santoro, Michele and Selle, Vittorio and Serinelli, Maria and Stivanello, Elisa and Tominz, Riccardo and Vigotti, Mariangela and Zauli-Sajani, Stefano and Forastiere, Francesco and Cadum, Ennio and Accetta, Gabriele and Angelini, Paola and Angiuli, Lorenzo and Assennato, Giorgio and Baccini, Michela and Baldacchini, Flavia and Baldacci, Sandra and Baldini, Marco and Baldo, Vincenzo and Ballarino, Giuseppe and Balzi, Daniela and Barban, Ingrid and Barbati, Giulia and Barbone, Fabio and Barchielli, Alessandro and Baroni, Simona and Barontini, Roberta and Bartolacci, Silvia and Bellodi, Sabina and Berico, Massimo and Berti, Giovanna and Bisanti, Luigi and Bonfanti, Marina and Bonomolo, Anna and Bonvicini, Laura and Bovenzi, Matteo and Brescianini, Cecilia and Broccoli, Serena and Bruni, Antonella and Caldara, Salvatore and Calzolari, Roberta and Canossa, Enrica and Caramia, Gianluca and Carreras, Giulia and Casale, Patrizia and Casella, Claudia and Casetta, Anica and Cattani, Giorgio and Cerrai, Sonia and Cervino, Marco and Cestari, Laura and Chellini, Elisabetta and Ciaccia, Giovanni and Cibella, Fabio and Cocchio, Silvia and Crosetto, Laura and Cuccaro, Francesco and Daris, Fulvio and De Donato, Francesca and De Girolamo, Gianfranco and De Togni, Aldo and Di Biagio, Katiuscia and Di Leo, Anna and Di Lonardo, Sara and Dessì, M. Patrizia and Evangelista, Andrea and Faccini, Fabio and Fallani, Gaia and Fruzzetti, Roberto and Galassi, Claudia and Gallo, Giovanni and Gallo, Lorenza and Ganzi, Angela and Gatti, Giulia and Giua, Roberto and Goldoni, Carlo Alberto and Grechi, Daniele and Grosa, Mauro and Guerrini, Nicola and ...
Epidemiologia e Prevenzione, ISSN 1120-9763, 2013, Volume 37, Issue 4-5, pp. 220 - 229
Journal Article
by Scarinzi, Cecilia and Alessandrini, Ester Rita and Chiusolo, Monica and Galassi, Claudia and Baldini, Marco and Serinelli, Maria and Pandolfi, Paolo and Bruni, Antonella and Biggeri, Annibale and De Togni, Aldo and Carreras, Giulia and Casella, Claudia and Canova, Cristina and Randi, Giorgia and Ranzi, Andrea and Morassuto, Caterina and Cernigliaro, Achille and Giannini, Simone and Lauriola, Paolo and Minichilli, Fabrizio and Gherardi, Bianca and Zauli-Sajani, Stefano and Stafoggia, Massimo and Casale, Patrizia and Gianicolo, Emilio A.L and Piovesan, Cinzia and Tominz, Riccardo and Porcaro, Loredana and Cadum, Ennio and Accetta, Gabriele and Angelini, Paola and Angiuli, Lorenzo and Antonelli, Antonello and Arena, Pasquale and Assennato, Giorgio and Baccini, Michela and Baldacchini, Flavia and Baldacci, Sandra and Baldo, Vincenzo and Ballarino, Giuseppe and Balzi, Daniela and Barban, Ingrid and Barbati, Giulia and Barbone, Fabio and Barchielli, Alessandro and Baroni, Simona and Barontini, Roberta and Bartolacci, Silvia and Bellodi, Sabina and Berico, Massimo and Berti, Giovanna and Bisanti, Luigi and Bonfanti, Marina and Bonomolo, Anna and Bonvicini, Laura and Bovenzi, Matteo and Brescianini, Cecilia and Broccoli, Serena and Caldara, Salvatore and Calzolari, Roberta and Canossa, Enrica and Caramia, Gianluca and Casale, Giovanna and Casetta, Anica and Cattani, Giorgio and Cerrai, Sonia and Cervino, Marco and Cestari, Laura and Chellini, Elisabetta and Ciaccia, Giovanni and Cibella, Fabio and Cocchio, Silvia and Crosetto, Laura and Cuccaro, Francesco and Daris, Fulvio and De Donato, Francesca and De Girolamo, Gianfranco and Di Biagio, Katiuscia and Di Leo, Anna and Di Lonardo, Sara and Dessì, M. Patrizia and Evangelista, Andrea and Faccini, Fabio and Fallani, Gaia and Faustini, Annunziata and Forastiere, Francesco and Fruzzetti, Roberto and Gallo, Giovanni and Gallo, Lorenza and Gandini, Martina and Ganzi, Angela and Garrone, Elsa and Gatti, Giulia and Giua, Roberto and Goldoni, Carlo Alberto and Grechi, Daniele and Grosa, Mauro and Guerrini, Nicola and Impallomeni, Maurizio and Iuzzolino, Claudia and ...
Epidemiologia e Prevenzione, ISSN 1120-9763, 2013, Volume 37, Issue 4-5, pp. 230 - 241
Journal Article
by Baccini, Michela and Biggeri, Annibale and Accetta, Gabriele and Alessandrini, Ester Rita and Angelini, Paola and Angiuli, Lorenzo and Antonelli, Antonello and Arena, Pasquale and Assennato, Giorgio and Baldacchini, Flavia and Baldacci, Sandra and Baldini, Marco and Baldo, Vincenzo and Ballarino, Giuseppe and Balzi, Daniela and Barban, Ingrid and Barbati, Giulia and Barbone, Fabio and Barchielli, Alessandro and Baroni, Simona and Barontini, Roberta and Bartolacci, Silvia and Bellodi, Sabina and Berico, Massimo and Berti, Giovanna and Bisanti, Luigi and Bonfanti, Marina and Bonomolo, Anna and Bonvicini, Laura and Bovenzi, Matteo and Brescianini, Cecilia and Broccoli, Serena and Bruni, Antonella and Cadum, Ennio and Caldara, Salvatore and Calzolari, Roberta and Canossa, Enrica and Canova, Cristina and Caramia, Gianluca and Carreras, Giulia and Casale, Giovanna and Casale, Patrizia and Casella, Claudia and Casetta, Anica and Cattani, Giorgio and Cernigliaro, Achille and Cerrai, Sonia and Cervino, Marco and Cestari, Laura and Chellini, Elisabetta and Chiusolo, Monica and Ciaccia, Giovanni and Cibella, Fabio and Cocchio, Silvia and Crosetto, Laura and Cuccaro, Francesco and Daris, Fulvio and De Donato, Francesca and De Girolamo, Gianfranco and De Togni, Aldo and Di Biagio, Katiuscia and Di Leo, Anna and Di Lonardo, Sara and Dessì, M. Patrizia and Evangelista, Andrea and Faccini, Fabio and Fallani, Gaia and Faustini, Annunziata and Forastiere, Francesco and Fruzzetti, Roberto and Galassi, Claudia and Gallo, Giovanni and Gallo, Lorenza and Gandini, Martina and Ganzi, Angela and Garrone, Elsa and Gatti, Giulia and Gherardi, Bianca and Gianicolo, Emilio A.L and Giannini, Simone and Giua, Roberto and Goldoni, Carlo Alberto and Grechi, Daniele and Grosa, Mauro and Guerrini, Nicola and Impallomeni, Maurizio and Iuzzolino, Claudia and La Torretta, Teresa and Lanzani, Guido and Lauriola, Paolo and Leuci, Paola and Luberto, Fernando and Lupi, Andrea and Madonia, Giuseppe and Maio, Sara and Malaguti, Antonella and Mangia, Cristina and Marchesi, Stefano and Mariottini, Mauro and Mariuz, Marika and ...
Epidemiologia e Prevenzione, ISSN 1120-9763, 2013, Volume 37, Issue 4-5, pp. 252 - 262
Journal Article
by Gandini, Martina and Berti, Giovanna and Cattani, Giorgio and Faustini, Annunziata and Scarinzi, Cecilia and De Donato, Francesca and Accetta, Gabriele and Angiuli, Lorenzo and Caldara, Salvatore and Carreras, Giulia and Casale, Patrizia and Di Biagio, Katiuscia and Giannini, Simone and Iuzzolino, Cinzia and Lanzani, Guido and Lauriola, Paolo and Leuci, Paola and Mariuz, Marika and Marchesi, Stefano and Nocioni, Alessandra and Pistollato, Silvia and Pizzi, Lorenzo and Ranzi, Andrea and Serinelli, Maria and Stagnaro, Emanuele and Vianello, Luisa and Vigotti, Mariangela and Zauli-Sajani, Stefano and Cadum, Ennio and Alessandrini, Ester Rita and Angelini, Paola and Antonelli, Antonello and Arena, Pasquale and Assennato, Giorgio and Baccini, Michela and Baldacchini, Flavia and Baldacci, Sandra and Baldini, Marco and Baldo, Vincenzo and Ballarino, Giuseppe and Balzi, Daniela and Barban, Ingrid and Barbati, Giulia and Barbone, Fabio and Barchielli, Alessandro and Baroni, Simona and Barontini, Roberta and Bartolacci, Silvia and Bellodi, Sabina and Berico, Massimo and Biggeri, Annibale and Bisanti, Luigi and Bonfanti, Marina and Bonomolo, Anna and Bonvicini, Laura and Bovenzi, Matteo and Brescianini, Cecilia and Broccoli, Serena and Bruni, Antonella and Calzolari, Roberta and Canossa, Enrica and Canova, Cristina and Caramia, Gianluca and Casale, Giovanna and Casella, Claudia and Casetta, Anica and Cernigliaro, Achille and Cerrai, Sonia and Cervino, Marco and Cestari, Laura and Chellini, Elisabetta and Chiusolo, Monica and Ciaccia, Giovanni and Cibella, Fabio and Cocchio, Silvia and Crosetto, Laura and Cuccaro, Francesco and Daris, Fulvio and De Girolamo, Gianfranco and De Togni, Aldo and Di Leo, Anna and Di Lonardo, Sara and Dessì, M. Patrizia and Evangelista, Andrea and Faccini, Fabio and Fallani, Gaia and Forastiere, Francesco and Fruzzetti, Roberto and Galassi, Claudia and Gallo, Giovanni and Gallo, Lorenza and Ganzi, Angela and Garrone, Elsa and Gatti, Giulia and Gherardi, Bianca and Gianicolo, Emilio A.L and Giua, Roberto and Goldoni, Carlo Alberto and Grechi, Daniele and Grosa, Mauro and ...
Epidemiologia e Prevenzione, ISSN 1120-9763, 2013, Volume 37, Issue 4-5, pp. 209 - 219
Journal Article
by Di Lonardo, Sara and Nuvolone, Daniela and Forastiere, Francesco and Cadum, Ennio and Barchielli, Alessandro and Accetta, Gabriele and Alessandrini, Ester Rita and Angelini, Paola and Angiuli, Lorenzo and Antonelli, Antonello and Arena, Pasquale and Assennato, Giorgio and Baccini, Michela and Baldacchini, Flavia and Baldacci, Sandra and Baldini, Marco and Baldo, Vincenzo and Ballarino, Giuseppe and Balzi, Daniela and Barban, Ingrid and Barbati, Giulia and Barbone, Fabio and Baroni, Simona and Barontini, Roberta and Bartolacci, Silvia and Bellodi, Sabina and Berico, Massimo and Berti, Giovanna and Biggeri, Annibale and Bisanti, Luigi and Bonfanti, Marina and Bonomolo, Anna and Bonvicini, Laura and Bovenzi, Matteo and Brescianini, Cecilia and Broccoli, Serena and Bruni, Antonella and Caldara, Salvatore and Calzolari, Roberta and Canossa, Enrica and Canova, Cristina and Caramia, Gianluca and Carreras, Giulia and Casale, Giovanna and Casale, Patrizia and Casella, Claudia and Casetta, Anica and Cattani, Giorgio and Cernigliaro, Achille and Cerrai, Sonia and Cervino, Marco and Cestari, Laura and Chellini, Elisabetta and Chiusolo, Monica and Ciaccia, Giovanni and Cibella, Fabio and Cocchio, Silvia and Crosetto, Laura and Cuccaro, Francesco and Daris, Fulvio and De Donato, Francesca and De Girolamo, Gianfranco and De Togni, Aldo and Di Biagio, Katiuscia and Di Leo, Anna and Dessì, M. Patrizia and Evangelista, Andrea and Faccini, Fabio and Fallani, Gaia and Faustini, Annunziata and Fruzzetti, Roberto and Galassi, Claudia and Gallo, Giovanni and Gallo, Lorenza and Gandini, Martina and Ganzi, Angela and Garrone, Elsa and Gatti, Giulia and Gherardi, Bianca and Gianicolo, Emilio A.L and Giannini, Simone and Giua, Roberto and Goldoni, Carlo Alberto and Grechi, Daniele and Grosa, Mauro and Guerrini, Nicola and Impallomeni, Maurizio and Iuzzolino, Claudia and La Torretta, Teresa and Lanzani, Guido and Lauriola, Paolo and Leuci, Paola and Luberto, Fernando and Lupi, Andrea and Madonia, Giuseppe and Maio, Sara and Malaguti, Antonella and Mangia, Cristina and Marchesi, Stefano and Mariottini, Mauro and ...
Epidemiologia e Prevenzione, ISSN 1120-9763, 2013, Volume 37, Issue 4-5, pp. 242 - 251
Journal Article
Cuadernos de antropología social, ISSN 1850-275X, 12/2003, Issue 18, pp. 15 - 34
Journal Article
Cuadernos de antropología social, ISSN 1850-275X, 12/2003, Issue 18, pp. 87 - 105
Los cambios científicos y tecnológicos producidos en el campo académico e industrial desde fines del siglo XX plantean un desafío para la antropología, en... 
ANTHROPOLOGY
Journal Article