खोज परिणाम - Barbara Castellotti

  • प्रदर्शित 1 - 18 परिणाम 18
परिणाम को परिष्कृत करें
  1. 1
    High frequency of<i>TARDBP</i>gene mutations in Italian patients with amyotrophic lateral sclerosis

    High frequency of<i>TARDBP</i>gene mutations in Italian patients with amyotrophic lateral sclerosis द्वारा Lucia Corrado, Antonia Ratti, Cinzia Gellera, Emanuele Buratti, Barbara Castellotti, Yari Carlomagno, Nicola Ticozzi, Letizia Mazzini, Lucia Testa, Franco Taroni, Francisco E. Baralle, Vincenzo Silani, Sandra D’Alfonso

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  2. 2
    Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

    Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis द्वारा Roberto Del Bo, Cinzia Tiloca, Viviana Pensato, Lucia Corrado, Antonia Ratti, Nicola Ticozzi, Stefania Corti, Barbara Castellotti, Letizia Mazzini, Gianni Sorarù, Cristina Cereda, Sandra D’Alfonso, Cinzia Gellera, Giacomo P. Comi, Vincenzo Silani

    प्रकाशित 2011
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  3. 3
    Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

    Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48 द्वारा Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, José Berciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli, Isabella Moroni, Paola Soliveri, E. Lamperti, Luisa Chiapparini, Daniela Di Bella, Franco Taroni, Caterina Mariotti

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  4. 4
    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene

    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene द्वारा Sara Matricardi, Paola De Liso, Elena Freri, Paola Costa, Barbara Castellotti, Stefania Magri, Cinzia Gellera, Tiziana Granata, Luciana Musante, Gaëtan Lesca, Julie Oertel, Dana Craiu, Trine Bjørg Hammer, Rikke S. Møller, Nina Barišić, Rami Abou Jamra, Tilman Polster, Federico Vigevano, Carla Marini

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  5. 5
    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 द्वारा 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

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  6. 6
    Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

    Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Re... द्वारा Robertino Dilena, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Antonella Giacobbe, Paolo Ambrosino, Ilaria Mosca, María Albina Galli, Sophie Guez, Monica Fumagalli, Francesco Miceli, Dario Cattaneo, Francesca Darra, Elena Di Gennaro, Federico Zara, Pasquale Striano, Barbara Castellotti, Cinzia Gellera, Costanza Varesio, Pierangelo Veggiotti, Maurizio Taglialatela

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

    TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations द्वारा Viviana Pensato, Cinzia Tiloca, Lucia Corrado, Cinzia Bertolin, Valentina Sardone, Roberto Del Bo, Daniela Calini, Jessica Mandrioli, Giuseppe Lauria, Letizia Mazzini, Giorgia Querin, Mauro Ceroni, Roberto Cantello, Stefania Corti, Barbara Castellotti, Giulia Soldà, Stefano Duga, Giacomo P. Comi, Cristina Cereda, Gianni Sorarù, Sandra D’Alfonso, Franco Taroni, Christopher E. Shaw, John E. Landers, Nicola Ticozzi, Antonia Ratti, Cinzia Gellera, Vincenzo Silani

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें
    Carta
    सूची में सहेजें
    में बचाया:
  8. 8
    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 द्वारा 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

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  9. 9
    Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

    Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis द्वारा Isabella Fogh, Kuang Lin, Cinzia Tiloca, James Rooney, Cinzia Gellera, Frank P. Diekstra, Antonia Ratti, Aleksey Shatunov, Michael A. van Es, Petroula Proitsi, Ashley Jones, William Sproviero, Adriano Chió, Russell L. McLaughlin, Gianni Sorarù, Lucia Corrado, Daniel Ståhl, Roberto Del Bo, Cristina Cereda, Barbara Castellotti, Jonathan D. Glass, Steven Newhouse, Richard Dobson, Bradley Smith, Simon Topp, Wouter van Rheenen, Vincent Meininger, Judith Melki, Karen Morrison, Pamela J. Shaw, P. Nigel Leigh, Peter M. Andersen, Giacomo P. Comi, Nicola Ticozzi, Letizia Mazzini, Sandra D’Alfonso, Bryan J. Traynor, Philip Van Damme, Wim Robberecht, Robert H. Brown, John E. Landers, Orla Hardiman, Cathryn M. Lewis, Leonard H. van den Berg, Christopher E. Shaw, Jan H. Veldink, Vincenzo Silani, Ammar Al‐Chalabi, John Powell

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis द्वारा Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, María Landqvist Waldö, Per Johansson, Christer Nilsson, Adelani Adeleye, Luisa Benussi, Giuliano Binetti, Daniel Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Ali Torkamani, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Jason Kost, Neil Kowal, Kevin P. Kenna, Jack W. Miller, Jean Paul Vonsattel, Caroline Vance, Huw R. Morris, Raffaele Ferrari, Claudia Colombrita, Daniela Galimberti, J. Raphael Gibbs, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Camille Alba, Dagmar Bačíková, Anneloor L.M.A. ten Asbroek, Elisa McGrath Martinez, Merit Cudkowicz, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Zorica Stević, Sandra D’Alfonso, Kevin P. Kenna, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Kevin P. Kenna, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Khrista Boylan, Safa Al‐Sarraj, Stefano Duga, Andrew King, Cristina Cereda, Hannah A. Pliner, Barbara Castellotti, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Neil W. Kowall, Orla Hardiman, Meraida Polak, Jan H. Veldink, Leonard H. van den Berg, José Luís Muñoz-Blanco, Hardev Pall, Stephen A. Goutman, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Russell L. McLaughlin, Antonia Ratti, Robert H. Brown

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  11. 11
    <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 द्वारा 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

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  12. 12
    Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

    Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS द्वारा Bradley Smith, Nicola Ticozzi, Claudia Fallini, Soragia Athina Gkazi, Simon Topp, Kevin P. Kenna, Emma L. Scotter, Jason Kost, Pamela Keagle, Jack W. Miller, Daniela Calini, Caroline Vance, Eric Danielson, Claire Troakes, Cinzia Tiloca, Safa Al‐Sarraj, Elizabeth Lewis, Andrew King, Claudia Colombrita, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Michael A. Simpson, Wouter van Rheenen, Frank P. Diekstra, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Karen Morrison, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Patrick A. Dion, Claire S. Leblond, Guy A. Rouleau, Orla Hardiman, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Jonathan D. Glass, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Vincenzo Silani, Christopher E. Shaw, John E. Landers, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  13. 13
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study द्वारा Stefan Groeneweg, van Geest FS, Ayhan Abacı, Alberto Alcantud, Ambegaonkar GP, Armour CM, Parkash A. Bakhtiani, Diana Bârcă, Bertini ES, van Beynum Im, Nicola Brunetti‐Pierri, Massimiliano Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Carlotta Castiglioni, Krishnarpan Chatterjee, de Coo IFM, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Koray Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Dremmen MHG, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Biju George, Gevers EF, Annette Hackenberg, Zita Halász, B. Heinrich, Thao Huynh, Anna Kłosowska, van der Knaap, van der Knoop, Daniel Konrad, Koolen DA, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Lorea CF, Lourenco CM, RJ Lunsing, G Lyons, Jana Malíková, Mancilla EE, Aaron McGowan, Verónica Mericq, Lora FM, Cassandra Moran, Muller Ke, Isabelle Oliver‐Petit, Laura Paone, Paul PG, Michel Polak, Francesco Porta, Poswar FO, Christina Reinauer, Klára Roženková, Menevse TS, Peter Simm, András Simon, Yogesh Preet Singh, Marco Spada, van der Spek J, Stals MAM, Athanasia Stoupa, Subramanian GM, Davide Tonduti, Serkan Turan, den Uil CA, Joel A. Vanderniet, van der Walt A, Wémeau Jl, Jolanta Wierzba, de Wit MY, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, Visser WE

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  14. 14
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study द्वारा Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, Alberto Alcantud, Gautam Ambegaonkar, Christine M. Armour, Priyanka Bakhtiani, Diana Bârcă, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Marianna Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, I.F.M. de Coo, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Belinda George, Evelien Gevers, Annette Hackenberg, Zita Halász, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Marjo S. van der Knaap, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klára Roženková, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Jet van der Spek, Milou A.M. Stals, Athanasia Stoupa, Gopinath M. Subramanian, Davide Tonduti, Serap Turan, Corstiaan A. den Uil, Joel A. Vanderniet, Adri van der Walt, Jean‐Louis Wémeau, Jolante Wierzba, Marie‐Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, W. Edward Visser

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  15. 15
    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis द्वारा Isabella Fogh, Antonia Ratti, Cinzia Gellera, K. Lin, Cinzia Tiloca, Valentina Moskvina, Lucia Corrado, Gianni Sorarù, Cristina Cereda, Stefania Corti, Davide Gentilini, Daniela Calini, Barbara Castellotti, Letizia Mazzini, Giorgia Querin, Stella Gagliardi, Roberto Del Bo, F. L. Conforti, Gabriele Siciliano, Maurizio Inghilleri, Francesco Saccà, Paolo Bongioanni, Silvana Penco, Massimo Corbo, Sandro Sorbi, Massimiliano Filosto, Alessandra Ferlini, Anna Maria Di Blasio, Stefano Signorini, Aleksey Shatunov, Ashley Jones, Pamela J. Shaw, Karen Morrison, Anne Farmer, Philip Van Damme, Wim Robberecht, Adriano Chió, Bryan J. Traynor, Michael Sendtner, Judith Melki, Vincent Meininger, Orla Hardiman, Peter M. Andersen, Nigel P. Leigh, Jonathan D. Glass, Daniel J. Overste, Frank P. Diekstra, Jan H. Veldink, Michael A. van Es, Christopher E. Shaw, Michael E. Weale, Cathryn M. Lewis, Julie Williams, Robert H. Brown, John E. Landers, Nicola Ticozzi, Mauro Ceroni, Elena Pegoraro, Giacomo P. Comi, Sandra D’Alfonso, Leonard H. van den Berg, Franco Taroni, Ammar Al‐Chalabi, John Powell, Vincenzo Silani, Vincenzo Brescia Morra, Alessandro Filla, Massimo Falconi, Angela Marsili, P. Viviana, Giorgia Puorro, Vincenzo La Bella, Giancarlo Logroscino, Maria Rosaria Monsurrò, Aldo Quattrone, Isabella Laura Simone, Kreshnik Ahmeti, Senda Ajroud‐Driss, Jennifer A. Armstrong, A. Birve, Hylke M. Blauw, Lucie Bruijn, W. Chen, Mary C. Comeau, Simon Cronin, Ghasemi Soraya, Josh D Grab, Ewout J. N. Groen, Jonathan L. Haines, Sandra Heller, Jie Huang, W.‐Y. Hung, ITALSGEN Consortium, James Jaworski, Humaira Majeed Khan, Carl D. Langefeld, Miranda C. Marion, Russell L. McLaughlin, Jack W. Miller, Gabriele Mora

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  16. 16
    GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

    GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture द्वारा Remi Stevelink, Ciarán Campbell, Siwei Chen, Bassel Abou‐Khalil, Oluyomi M. Adesoji, Zaid Afawi, Elisabetta Amadori, Alison Anderson, Joseph Anderson, Danielle M. Andrade, Grazia Annesi, Pauls Auce, Andreja Avberšek, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Carmen Barba, Karen Barboza, Fabrice Bartoloméi, Thomas Bast, Larry Baum, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Albert J. Becker, Felicitas Becker, Caitlin A. Bennett, Bianca Berghuis, Samuel F. Berkovic, Ahmad Beydoun, Claudia Bianchini, Francesca Bisulli, Ilan Blatt, Dheeraj Reddy Bobbili, Ingo Borggraefe, Christian M. Boßelmann, Vera Braatz, Jonathan P. Bradfield, Knut Brockmann, Lawrence C. Brody, Russell J. Buono, Robyn M. Busch, Hande Çağlayan, Ellen Campbell, Laura Canafoglia, Christina Canavati, Gregory D. Cascino, Barbara Castellotti, Claudia B. Catarino, Gianpiero L. Cavalleri, Felecia Cerrato, Francine Chassoux, Stacey S. Cherny, Ching‐Lung Cheung, Krishna Chinthapalli, I-Jun Chou, Seo‐Kyung Chung, Tracy Air, Peggy O. Clark, Andrew J. Cole, Alastair Compston, Antonietta Coppola, Mahgenn Cosico, Patrick Cossette, John Craig, Caroline Cusick, Mark J. Daly, Lea K. Davis, Gerrit‐Jan de Haan, Norman Delanty, Chantal Depondt, Philippe Derambure, Orrin Devinsky, Lidia Di Vito, Dennis Dlugos, Viola Doccini, Colin P. Doherty, Hany El‐Naggar, Christian E. Elger, Colin A. Ellis, Johan G. Eriksson, Annika Faucon, Yen‐Chen Anne Feng, Lisa Ferguson, Thomas N. Ferraro, Lorenzo Ferri, Martha Feucht, Mark P. Fitzgerald, Beata Fonferko‐Shadrach, Francesco Fortunato, Silvana Franceschetti, Andre Franke, Jacqueline A. French, Elena Freri, Monica Gagliardi, Antonio Gambardella, Eric B. Geller, Tania Giangregorio, Leif Gjerstad

    प्रकाशित 2023
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  17. 17
    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis द्वारा Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson‐Stone, John B. Kwok, Emily Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen Morrison, Pamela J. Shaw, Ammar Al‐Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chió, Thomas O. Crawford, Bradley Smith, Bryan J. Traynor, Bradley Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L.M.A. ten Asbroek, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Rosa Rademakers, Marka van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  18. 18
    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration द्वारा Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina‐Gómez, Rosalie Sterenborg, Hao Wang, Anna Dolcetta‐Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abacı, Erica L T van den Akker, Gautam Ambegaonkar, Christine M. Armour, I. Bacos, Priyanka Bakhtiani, Diana Bârcă, Andrew J. Bauer, Sjoerd A.A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet van der Spek, I.F.M. de Coo, R. Coutant, Dana Craiu, Patricia Crock, Christian de Goede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna Hurst, Tony Huynh, Amber Isaza, Anna Kłosowska, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen LaFranchi, Amy Lawson‐Yuen, Jan Lebl, Selmar Leeuwenburgh, M Linder-Lucht, Amelia Martí, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Kenneth McCormick, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Lindsey Nicol, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano de Oliveira Poswar, Christina Reinauer, Klára Roženková, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A.M. Stals, Merel T Stegenga, Athanasia Stoupa

    प्रकाशित 2025
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:

खोज साधन: