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1دورية أكاديمية
المؤلفون: Eduardo de la Fuente-Munoz, Ana Van Den Rym, Blanca García-Solis, Juliana Ochoa Grullón, Kissy Guevara-Hoyer, Miguel Fernández-Arquero, Lucía Galán Dávila, Jorge Matías-Guiú, Silvia Sánchez-Ramón, Rebeca Pérez de Diego
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: STIM1, infection, gain of function, myopathy, calcium signalling, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2022.917601/fullTest; https://doaj.org/toc/1664-3224Test
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2دورية أكاديمية
المؤلفون: Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, Alberto Blázquez-Encinar, Gerardo Gutiérrez-Gutiérrez, Laura Martínez-Vicente, Lucía Galán-Dávila, Jorge García-García, Joaquín Arenas, Nuria Muelas, Aurelio Hernández-Laín, Cristina Domínguez-González, Miguel A. Martín
المصدر: Journal of Clinical Medicine; Volume 11; Issue 1; Pages: 22
مصطلحات موضوعية: TWNK gene, mitochondrial dysfunction, mtDNA maintenance defects, progressive external ophthalmoplegia
وصف الملف: application/pdf
العلاقة: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm11010022Test
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المؤلفون: David Adams, Michael Polydefkis, Alejandra González-Duarte, Jonas Wixner, Arnt V Kristen, Hartmut H Schmidt, John L Berk, Inés Asunción Losada López, Angela Dispenzieri, Dianna Quan, Isabel M Conceição, Michel S Slama, Julian D Gillmore, Theodoros Kyriakides, Senda Ajroud-Driss, Márcia Waddington-Cruz, Michelle M Mezei, Violaine Planté-Bordeneuve, Shahram Attarian, Elizabeth Mauricio, Thomas H Brannagan, Mitsuharu Ueda, Emre Aldinc, Jing Jing Wang, Matthew T White, John Vest, Erhan Berber, Marianne T Sweetser, Teresa Coelho, Giuseppe Vita, Vincenzo Rizzo, Massimo Russo, Anna Mazzeo, Luca Gentile, Caitlin Brueckner, Victoria Lazzari, Janice Wiesman, Douglas DeLong, Jennifer Victory, James Dalton, John May, Catherine Gilmore, Saran Diallo, Emilien Delmont, Jean Pouget, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Campana-Salort, Ana Lopes, Filipa Lamas, Carlos Neves, Jose Castro, Pedro Pereira, Isabel Castro, Ana Franco, Miguel Oliveira Santos, Conceição de Azevedo Coutinho, Catarina Falcao de Campos, Antonio Hipólito Reis, Nuno Correia, Javier M Perez, Ana Martins da Silva, Cristina Alves, Marcio Cardoso, Katia Valdrez, Julia R Monte, Bernardete Pessoa, Nadia Guimaraes, Monica Freitas, Joana Ramalho, Natalia Ferreira, Daisuke Kuzume, Celine Tard, Nawal Waucquier, Isabelle Rougeaux, Sylvie Brice, Emmanuelle Kasprzyk, Elise Elrezzi, Sayah Meguig, Eric Hachulla, Clement Gauvain, Maria-Claire Migaud-Chervy, Dominique Deplanque, Elsa Jozefowicz, Loic Lebellec, Line Balaya-Gouraya, Nathalie Jehan Lacour, Halima Bournane, Nathalie Martin, Mongia Elabed, Niamey Sacko, Yasmine Boubrit, Amina Gaouar, Fetra Rakotondratafika, Marie Théaudin-Saliou, Cécile Cauquil-Michon, Celine Labeyrie, Adeline Not, Abdallah Al-Salameh, Anne-Lise Lecoq, Maeva Stephant, Andoni Echaniz-Laguna, Laurent Becquemont, Guillemette Beaudonnet, Vincent Algalarrondo, Ludivine Eliahou, Antoine Rousseau, Aissatou Signate, Emeline Berthelot, Jocelyn Inamo, Laetitia Vervoitte, Cecile Focseneanu, Thierry Gendre, Raphaele Arrouasse, Samar S. Ayache, Laura Ernande, Philippe Le Corvoisier, Hayet Salhi, Ariane Choumert, Vincent Ehinger, Julie Ruiz, Cyril Charlin, Thomas Megelin, Thomas H Brannagan III, Raisy Fayerman, Arreum Kim, Allan Paras, Leidy J Gonzalez, Steven Tsang, Fernanda Wajnsztajn, Jeffrey Shije, Christina Ulane, Inna Kleyman, Louis Weimer, Comana Cioroiu, Sakis Lambrianides, Rana Abu-Manneh, Eleni Zamba-Papanicolaou, Petros Agathangelou, Eleni Leonidou, Satoshi Tada, Akemi Fujita, Masahiro Nagai, Rina Ando, Yuko Hosokawa, Yuki Yamanishi, J. Scott Overcash, Elena Giardino, Leslie Boyer, Lien Dang, An Le, Tyler Nguyen, Lien Giang, Peter Sellers, Leyla Tran, Nghi Truong, Maita Vinas, Nicole Hrkman, Sarah Miller, David Nguyen, Ashley Smith, Helen Pu, Steve Li, Thao Vuong, Holly Dioso, Sinikka Green, Kia Lee, Hanh Chu, Michael Waters, Derya J Coskun, Karla A Zepeda, William O'Riordan, Laura Obici, Andrea Cortese, Alessandro Lozza, Giampaolo Merlini, Vittorio Rosti, Mario Sabatelli, Giulia Bisogni, Daniela Bernardo, Marco Luigetti, Andrea Di Paolantonio, Valeria Guglielmino, Angela Romano, Hans Nienhuis, Janita Bulthuis-Kuiper, Olga Gerk, Hannah Ulbricht, Lenka Taylor, Eva Meyle, Natalia Kleinschmidt, David Meyrath, Simone Noe-Schwenn, Ulrike Meng, Ralf Bauer, Fabian aus dem Siepen, Selina Hein, Tetsuya Takahashi, Tomohiko Oshita, Yoko Koujin, Shuichiro Neshige, Tomohisa Nezu, Akiko Segawa, Hiroki Ueno, Hiroyuki Morino, Josep M Campistol, Lida Maria Rodas Marin, Josep Miquel Blasco Pelicano, Lucía Galán Dávila, Marta Palacios, Vanesa Pytel Cordoba, Antonio Guerrero Sola, Alejandro Horga, Julián García Feijoo, Leopoldo Perez de Isla, Wilson Marques Júnior, Mariana Moscardini, Debora Cristina Litcanov, Ana Flavia Viera Lima, Leonardo Rodrigues, Barbara Marques Coutinho, Carolina Lavigne Moreira, Vanessa Daccach Marques, Francisco Munoz Beamud, Álvaro Gragera Martínez, Cristina Borrachero, Eugenia Cisneros Barroso, Adrián Rodríguez Rodríguez, Monica Sanz, Elena Rigo Oliver, Juan González Moreno, Jose M Gamez Martinez, Cristina Descals, Mercedes Uson, Francisco Jose Vega, Antoni Figuerola, Carles Montala, Moises Dias da Silva, Renata Gervais de Santa Rosa, Luiz Felipe Pinto, Marcus Vinicius Pinto, Amanda Cardoso Berensztejn, Fabio Barroso, Andrea Lautre, Lucas G Orellana, Maria Alejandra González-Duarte Briseño, Karla Cárdenas-Soto, Brenda Poled Jiménez López, Sandra Lorena Pérez-Castañeda, Carlos Gerardo Cantú Brito, David Rivera de la Parra, Jose Pablo Hernandez Reyes, Maria del Mar Saniger Alba, Elia Criollo Mora, Yesim Parman, Kus Jülide Rezzan, Erdi Sahin, Nail G Serbest, Hacer Durmus, Arman Cakar, Nuriye Ilknur Tugal Tutkun, Sacit Karamursel, Ali Elitok, Nermin G Sirin Inan, Emre Altinkurt, Jing Ye, Adriane C Allen, Vinay Chaudhry, Raquel Jarrett, Neil Bressler, Kathleen L Burks, Qingfeng Liu, Mohammad Khoshnoodi, Daniel P Judge, Geno Vista, Syed Mahmood Shah, Hirotoshi Hamaguchi, Junko Oda, Emi Fukase, Ikuko Taniguchi, Tetsuya Oda, Hironobu Endo, Masahiro Shimomura, Kimitaka Katanazaka, Shusuke Koto, Takahiro Nakano, Christof Scheid, Andreas Zueiter, Lars Pester, Doreen Walter, Betül Özdemir, Lukas F Frenzel, Udo Holtick, Jeeyoung Oh, Hee Jin Kim, Hyun Jin Shin, Kyomin Choi, Taro Yamashita, Teruaki Masuda, Yohei Misumi, Akihiko Ueda, Keiichi Nakahara, Akiko Yorita, Seiko Tsuruhisa, Takayuki Taniwaki, Masaya Harada, Taiga Moritaka, Naonori Sakurada, Elizabeth A Mauricio, Amber Baskin, Elliot Dimberg, Amie Fonder, Miriam Hobbs, Stephen J Russell, Peter Dyck, Wilson Gonsalves, Nelson Leung, Thomas E Witzig, Steven R Zeldenrust, Lisa Hwa, Prashant Kapoor, Shaji K Kumar, Yi Lin, John A Lust, Vincent S Rajkumar, David Dingli, Morie A Gertz, Ronald Go, Suzanne R Hayman, Samir Dalia, Esmeralda Carrillo, Peter Gorevic, Garnette Mason, Chi-Chao Chao, Ming-Jen Lee, Jen-Jen Su, Sung-Tsang Hsieh, Li-Kai Tsai, Shin-Joe Yeh, Chih-Chao Yang, Senda Ajroud-Driss Ajroud-Driss, Patricia Casey, Benjamin C Joslin, Miriam Freimer, Alison Sankey, Amanda Kenepp, Sarah Heintzman, Samantha LoRusso, Youichi Hokezu, Byoung-Joon Kim, JuHyeon Kim, Ga Yeon Lee, Eun Bin Cho, Eun-Seok Jeon, Ju-Hong Min, Jin Myoung Seok, Hye Lim Lee, Jae Hong Park, Yoshiki Sekijima, Chinatsu Miyazawa, Nagaaki Kato, Dai Kishida, Akiyo Hineno, Minori Kodaira, Tsuneaki Yoshinaga, Teruyoshi Miyahara, Akira Imai, Kazuhiko Matsumoto, Kon-Ping Lin, Yi-Chung Lee, Malin Falk, Bjorn Pilebro, Ole Suhr, Per Lindqvist, Karin Soderberg, Fatima Pedrosa-Domellöf, Intissar Anan, Erik Nordh, Ivaylo Tournev, Sashka Zhelyazkova-Glaveeva, Zheyna Cherneva, Staiko Sarafov, Teodora Chamova, Sylvia Cherninkova-Gopina, Frauke Friebel, Andree Zibert, Natasa Mihailovic, Friederike Schubert, Elena Vorona, Larissa Lahme, Anna Huesing-Kabar, Matthias Schilling, Iyad Kabar, Ana Martinez-Naharro, Liza Chacko, Oliver Cohen, Steven Law, Tamer Rezk, Helen J Lachmann, Brianna Blume, Stacy Dixon, Soon Chai Low, Soo Looi Chan, He Eng Li Lim, Khean Jin Goh, Deborah Kraus, Kristin Jack, N. Kevin Wade, Glenn Lopate, Brittany Zwijack, Julaine Florence, R. Brian Sommerville, Graeme Stewart, Julie Ryder, Linda Mekhael, Mark Taylor, Daniel Suan, Karen Wells, Paula Stone, Amenze Itoya, Mercy Owusu-Sekyere, Desmond Thai, Ilonah Chahine, Salve Pedrosa, Thi Hoa (Therese) Do
المساهمون: Repositório da Universidade de Lisboa
المصدر: The Lancet Neurology. 20:49-59
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Drug-Related Side Effects and Adverse Reactions, 030204 cardiovascular system & hematology, Placebo, Severity of Illness Index, Polyneuropathies, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Internal medicine, Outcome Assessment, Health Care, Severity of illness, medicine, Humans, Prealbumin, RNA, Small Interfering, Infusions, Intravenous, Adverse effect, Aged, Amyloid Neuropathies, Familial, business.industry, Middle Aged, medicine.disease, Interim analysis, amyloidosis, transthyretin, polyneuropathy, patisiran, OLE study, Clinical trial, Female, Neurology (clinical), business, Polyneuropathy, 030217 neurology & neurosurgery, Progressive disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6a19ce91101df4f11e95eb6d009161Test
https://doi.org/10.1016/s1474-4422Test(20)30368-9 -
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المؤلفون: Eduardo de la Fuente-Munoz, Ana Van Den Rym, Blanca García-Solis, Juliana Ochoa Grullón, Kissy Guevara-Hoyer, Miguel Fernández-Arquero, Lucía Galán Dávila, Jorge Matías-Guiú, Silvia Sánchez-Ramón, Rebeca Pérez de Diego
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, STIM1, infection, gain of function, myopathy, calcium signalling
الإتاحة: https://doi.org/10.3389/fimmu.2022.917601.s001Test
https://figshare.com/articles/dataset/DataSheet_1_Case_Report_Novel_STIM1_Gain-of-Function_Mutation_in_a_Patient_With_TAM_STRMK_and_Immunological_Involvement_doc/20138411Test -
5دورية أكاديمية
المؤلفون: Adams, David, Polydefkis, Michael, González-Duarte, Alejandra, Wixner, Jonas, Kristen, Arnt V, Schmidt, Hartmut H, Berk, John L, Losada López, Inés Asunción, Dispenzieri, Angela, Quan, Dianna, Conceição, Isabel M, Slama, Michel S, Gillmore, Julian D, Kyriakides, Theodoros, Ajroud-Driss, Senda, Waddington-Cruz, Márcia, Mezei, Michelle M, Planté-Bordeneuve, Violaine, Attarian, Shahram, Mauricio, Elizabeth, Brannagan, Thomas H, Ueda, Mitsuharu, Aldinc, Emre, Wang, Jing Jing, White, Matthew T, Vest, John, Berber, Erhan, Sweetser, Marianne T, Coelho, Teresa, Giuseppe Vita, Vincenzo Rizzo, Massimo Russo, Anna Mazzeo, Luca Gentile, John L Berk, Caitlin Brueckner, Victoria Lazzari, Janice Wiesman, Douglas DeLong, Jennifer Victory, James Dalton, John May, Catherine Gilmore, Shahram Attarian, Saran Diallo, Emilien Delmont, Jean Pouget, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Campana-Salort, Isabel M Conceição, Ana Lopes, Filipa Lamas, Carlos Neves, Jose Castro, Pedro Pereira, Isabel Castro, Ana Franco, Miguel Oliveira Santos, Conceição de Azevedo Coutinho, Catarina Falcao de Campos, Teresa Coelho, Antonio Hipólito Reis, Nuno Correia, Javier M Perez, Ana Martins da Silva, Cristina Alves, Marcio Cardoso, Katia Valdrez, Julia R Monte, Bernardete Pessoa, Nadia Guimaraes, Monica Freitas, Joana Ramalho, Natalia Ferreira, Daisuke Kuzume, Celine Tard, Nawal Waucquier, Isabelle Rougeaux, Sylvie Brice, Emmanuelle Kasprzyk, Elise Elrezzi, Sayah Meguig, Eric Hachulla, Clement Gauvain, Maria-Claire Migaud-Chervy, Dominique Deplanque, Elsa Jozefowicz, Loic Lebellec, David Adams, Line Balaya-Gouraya, Nathalie Jehan Lacour, Halima Bournane, Nathalie Martin, Mongia Elabed, Niamey Sacko, Yasmine Boubrit, Amina Gaouar, Fetra Rakotondratafika, Marie Théaudin-Saliou, Cécile Cauquil-Michon, Celine Labeyrie, Adeline Not, Abdallah Al-Salameh, Anne-Lise Lecoq, Maeva Stephant, Andoni Echaniz-Laguna, Laurent Becquemont, Guillemette Beaudonnet, Vincent Algalarrondo, Ludivine Eliahou, Michel S Slama, Aissatou Signate, Emeline Berthelot, Jocelyn Inamo, Violaine Planté-Bordeneuve, Laetitia Vervoitte, Cecile Focseneanu, Thierry Gendre, Raphaele Arrouasse, Samar S Ayache, Laura Ernande, Philippe Le Corvoisier, Hayet Salhi, Ariane Choumert, Vincent Ehinger, Julie Ruiz, Cyril Charlin, Thomas Megelin, Thomas H Brannagan Iii, Raisy Fayerman, Arreum Kim, Allan Paras, Leidy J Gonzalez, Steven Tsang, Fernanda Wajnsztajn, Jeffrey Shije, Christina Ulane, Inna Kleyman, Louis Weimer, Comana Cioroiu, Sakis Lambrianides, Rana Abu-Manneh, Eleni Zamba-Papanicolaou, Petros Agathangelou, Eleni Leonidou, Theodoros Kyriakides, Satoshi Tada, Akemi Fujita, Masahiro Nagai, Rina Ando, Yuko Hosokawa, Yuki Yamanishi, J Scott Overcash, Elena Giardino, Leslie Boyer, Lien Dang, An Le, Tyler Nguyen, Lien Giang, Peter Sellers, Leyla Tran, Nghi Truong, Maita Vinas, Nicole Hrkman, Sarah Miller, David Nguyen, Ashley Smith, Helen Pu, Steve Li, Thao Vuong, Holly Dioso, Sinikka Green, Kia Lee, Hanh Chu, Michael Waters, Derya J Coskun, Karla A Zepeda, William O'Riordan, Laura Obici, Andrea Cortese, Alessandro Lozza, Giampaolo Merlini, Vittorio Rosti, Mario Sabatelli, Giulia Bisogni, Daniela Bernardo, Marco Luigetti, Andrea Di Paolantonio, Valeria Guglielmino, Angela Romano, Hans Nienhuis, Janita Bulthuis-Kuiper, Arnt V Kristen, Olga Gerk, Hannah Ulbricht, Lenka Taylor, Eva Meyle, Natalia Kleinschmidt, David Meyrath, Simone Noe-Schwenn, Ulrike Meng, Ralf Bauer, Fabian Aus dem Siepen, Selina Hein, Tetsuya Takahashi, Tomohiko Oshita, Yoko Koujin, Shuichiro Neshige, Tomohisa Nezu, Akiko Segawa, Hiroki Ueno, Hiroyuki Morino, Josep M Campistol, Lida Maria Rodas Marin, Josep Miquel Blasco Pelicano, Lucía Galán Dávila, Marta Palacios, Vanesa Pytel Cordoba, Antonio Guerrero Sola, Alejandro Horga, Julián García Feijoo, Leopoldo Perez de Isla, Wilson Marques Júnior, Mariana Moscardini, Debora Cristina Litcanov, Ana Flavia Viera Lima, Leonardo Rodrigues, Barbara Marques Coutinho, Carolina Lavigne Moreira, Vanessa Daccach Marques, Francisco Munoz Beamud, Álvaro Gragera Martínez, Cristina Borrachero, Inés Asunción Losada López, Eugenia Cisneros Barroso, Adrián Rodríguez Rodríguez, Monica Sanz, Elena Rigo Oliver, Juan González Moreno, Jose M Gamez Martinez, Cristina Descals, Mercedes Uson, Francisco Jose Vega, Antoni Figuerola, Carles Montala, Márcia Waddington-Cruz, Moises Dias da Silva, Renata Gervais de Santa Rosa, Luiz Felipe Pinto, Marcus Vinicius Pinto, Amanda Cardoso Berensztejn, Fabio Barroso, Andrea Lautre, Lucas G Orellana, Maria Alejandra González-Duarte Briseño, Karla Cárdenas-Soto, Brenda Poled Jiménez López, Sandra Lorena Pérez-Castañeda, Carlos Gerardo Cantú Brito, David Rivera de la Parra, Jose Pablo Hernandez Reyes, Maria Del Mar Saniger Alba, Elia Criollo Mora, Yesim Parman, Kus Jülide Rezzan, Erdi Sahin, Nail G Serbest, Hacer Durmus, Arman Cakar, Nuriye Ilknur Tugal Tutkun, Sacit Karamursel, Ali Elitok, Nermin G Sirin Inan, Emre Altinkurt, Michael Polydefkis, Jing Ye, Adriane C Allen, Vinay Chaudhry, Raquel Jarrett, Neil Bressler, Kathleen L Burks, Qingfeng Liu, Mohammad Khoshnoodi, Daniel P Judge, Geno Vista, Syed Mahmood Shah, Hirotoshi Hamaguchi, Junko Oda, Emi Fukase, Ikuko Taniguchi, Tetsuya Oda, Hironobu Endo, Masahiro Shimomura, Kimitaka Katanazaka, Shusuke Koto, Takahiro Nakano, Christof Scheid, Andreas Zueiter, Lars Pester, Doreen Walter, Betül Özdemir, Lukas F Frenzel, Udo Holtick, Jeeyoung Oh, Hee Jin Kim, Hyun Jin Shin, Kyomin Choi, Taro Yamashita, Mitsuharu Ueda, Teruaki Masuda, Yohei Misumi, Akihiko Ueda, Keiichi Nakahara, Akiko Yorita, Seiko Tsuruhisa, Takayuki Taniwaki, Masaya Harada, Taiga Moritaka, Naonori Sakurada, Elizabeth A Mauricio, Amber Baskin, Elliot Dimberg, Angela Dispenzieri, Amie Fonder, Miriam Hobbs, Stephen J Russell, Peter Dyck, Wilson Gonsalves, Nelson Leung, Thomas E Witzig, Steven R Zeldenrust, Lisa Hwa, Prashant Kapoor, Shaji K Kumar, Yi Lin, John A Lust, Vincent S Rajkumar, David Dingli, Morie A Gertz, Ronald Go, Suzanne R Hayman, Samir Dalia, Esmeralda Carrillo, Peter Gorevic, Garnette Mason, Chi-Chao Chao, Ming-Jen Lee, Jen-Jen Su, Sung-Tsang Hsieh, Li-Kai Tsai, Shin-Joe Yeh, Chih-Chao Yang, Senda Ajroud-Driss Ajroud-Driss, Patricia Casey, Benjamin C Joslin, Miriam Freimer, Alison Sankey, Amanda Kenepp, Sarah Heintzman, Samantha LoRusso, Youichi Hokezu, Byoung-Joon Kim, JuHyeon Kim, Ga Yeon Lee, Eun Bin Cho, Eun-Seok Jeon, Ju-Hong Min, Jin Myoung Seok, Hye Lim Lee, Jae Hong Park, Yoshiki Sekijima, Chinatsu Miyazawa, Nagaaki Kato, Dai Kishida, Akiyo Hineno, Minori Kodaira, Tsuneaki Yoshinaga, Teruyoshi Miyahara, Akira Imai, Kazuhiko Matsumoto, Kon-Ping Lin, Yi-Chung Lee, Jonas Wixner, Malin Falk, Bjorn Pilebro, Ole Suhr, Per Lindqvist, Karin Soderberg, Fatima Pedrosa-Domellöf, Intissar Anan, Erik Nordh, Ivaylo Tournev, Sashka Zhelyazkova-Glaveeva, Zheyna Cherneva, Staiko Sarafov, Teodora Chamova, Sylvia Cherninkova-Gopina, Hartmut H Schmidt, Frauke Friebel, Andree Zibert, Natasa Mihailovic, Friederike Schubert, Elena Vorona, Larissa Lahme, Anna Huesing-Kabar, Matthias Schilling, Iyad Kabar, Julian D Gillmore, Ana Martinez-Naharro, Liza Chacko, Oliver Cohen, Steven Law, Tamer Rezk, Helen J Lachmann, Dianna Quan, Brianna Blume, Stacy Dixon, Soon Chai Low, Soo Looi Chan, He Eng Li Lim, Khean Jin Goh, Michelle M Mezei, Deborah Kraus, Kristin Jack, Glenn Lopate, Brittany Zwijack, Julaine Florence, R Brian Sommerville, Graeme Stewart, Julie Ryder, Linda Mekhael, Mark Taylor, Daniel Suan, Karen Wells, Paula Stone, Amenze Itoya, Mercy Owusu-Sekyere, Desmond Thai, Ilonah Chahine, Salve Pedrosa, Thi Hoa Therese Do
المساهمون: David, Adam, Michael, Polydefki, Alejandra, González-Duarte, Jonas, Wixner, Arnt V, Kristen, Hartmut H, Schmidt, John L, Berk, Inés Asunción, Losada López, Angela, Dispenzieri, Dianna, Quan, Isabel M, Conceição, Michel S, Slama, Julian D, Gillmore, Theodoros, Kyriakide, Senda, Ajroud-Dri, Márcia, Waddington-Cruz, Michelle M, Mezei, Violaine, Planté-Bordeneuve, Shahram, Attarian, Elizabeth, Mauricio, Thomas H, Brannagan, Mitsuharu, Ueda, Emre, Aldinc, Jing Jing, Wang, Matthew T, White, John, Vest, Erhan, Berber, Marianne T, Sweetser, Teresa, Coelho, Vita, Giuseppe, Rizzo, Vincenzo, Russo, Massimo, Mazzeo, Anna, Gentile, Luca, L Berk, John, Brueckner, Caitlin, Lazzari, Victoria, Wiesman, Janice, DeLong, Dougla, Victory, Jennifer, Dalton, Jame, May, John, Gilmore, Catherine, Attarian, Shahram, Diallo, Saran, Delmont, Emilien, Pouget, Jean, Verschueren, Annie, Grapperon, Aude-Marie, Campana-Salort, Emmanuelle, M Conceição, Isabel, Lopes, Ana, Lamas, Filipa, Neves, Carlo, Castro, Jose, Pereira, Pedro, Castro, Isabel, Franco, Ana, Oliveira Santos, Miguel, de Azevedo Coutinho, Conceição, Falcao de Campos, Catarina, Coelho, Teresa, Hipólito Reis, Antonio, Correia, Nuno, M Perez, Javier, Martins da Silva, Ana, Alves, Cristina, Cardoso, Marcio, Valdrez, Katia, R Monte, Julia, Pessoa, Bernardete, Guimaraes, Nadia, Freitas, Monica, Ramalho, Joana, Ferreira, Natalia, Kuzume, Daisuke, Tard, Celine, Waucquier, Nawal, Rougeaux, Isabelle, Brice, Sylvie, Kasprzyk, Emmanuelle, Elrezzi, Elise, Meguig, Sayah, Hachulla, Eric, Gauvain, Clement, Migaud-Chervy, Maria-Claire, Deplanque, Dominique, Jozefowicz, Elsa, Lebellec, Loic, Adams, David, Balaya-Gouraya, Line, Jehan Lacour, Nathalie, Bournane, Halima, Martin, Nathalie, Elabed, Mongia, Sacko, Niamey, Boubrit, Yasmine, Gaouar, Amina, Rakotondratafika, Fetra, Théaudin-Saliou, Marie
مصطلحات موضوعية: amyloidosis, transthyretin, polyneuropathy, patisiran, OLE study
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33212063; info:eu-repo/semantics/altIdentifier/wos/WOS:000600831400023; volume:20; issue:1; firstpage:49; lastpage:59; numberofpages:11; journal:LANCET NEUROLOGY; http://hdl.handle.net/11570/3181060Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097405151; https://www.sciencedirect.com/science/article/pii/S1474442220303689?via=ihubTest
الإتاحة: https://doi.org/10.1016/S1474-4422Test(20)30368-9
http://hdl.handle.net/11570/3181060Test
https://www.sciencedirect.com/science/article/pii/S1474442220303689?via=ihubTest -
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المؤلفون: Ángel Aledo Serrano, Rainiero Ávila Polo, Ana Camacho Salas, Francisco Javier Carod Artal, Íñigo Corral Corral, María Luz Cuadrado Pérez, Jéssica Fernández Domínguez, Mario Fernández Ruiz, Lucía Forero Díaz, Emilio Franco Macías, Antonia Galán Dávila, Lucía Galán Dávila, Juan Carlos García Moncó, Raquel García Rodríguez, Ángel Luis Guerrero Peral, Luis Javier López del Val, Carlos Majós Torró, Raluca Marasescu, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Valentín Mateos Marcos, Leonor Meana Carballo, Lorenzo Morlán Gracia, Sergio Muñiz Castrillo, María Isabel Pedraza Hueso, David A. Pérez Martínez, Ángel Pérez Sempere, Jesús Porta Etessam, Ana I. Puente Muñoz, Carmen Quereda Rodríguez-Navarro, Eloy Rivas Infante, Azucena Rodríguez Guardado, Íñigo Rojas-Marcos, Sonia Santos Lasaosa, José M.ª Torres Campa-Santamarina, Alberto Villarejo Galende
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::73e7cd9dafe7fb87a083361cfb4434c9Test
https://doi.org/10.1016/b978-84-9022-484-7.00020-3Test -
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المؤلفون: Juan Fortea, Ricard Rojas-García, Lucía Galán-Dávila, Jesús Esteban-Pérez, Pau Pastor, Marc Suárez-Calvet, Jesus S. Mora, Aura Capdevila, Alberto García-Redondo, Anna Antonell, Aina Noguera, Francisco Javier Rodriguez de Rivera, Alberto Lleó, Jordi Clarimón, Albert Lladó, Guillermo Amer, Isabel Hernández, José Luis Muñoz-Blanco, Oriol Dols-Icardo, Estrella Gómez-Tortosa, Sara Ortega-Cubero, Rafael Blesa, Daniel Alcolea, Sofía Antón-Aguirre, Raquel Sánchez-Valle
المصدر: HUMAN MOLECULAR GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Male, Heterozygote, Biology, C9orf72, Genetics, medicine, Humans, Amyotrophic lateral sclerosis, Molecular Biology, Genetics (clinical), DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Proteins, Heterozygote advantage, Twins, Monozygotic, General Medicine, Middle Aged, medicine.disease, Blotting, Southern, Frontotemporal Dementia, Mutation, Female, Age of onset, Trinucleotide repeat expansion, Frontotemporal dementia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97959c34ab83aed926e327e4d7a6d4f5Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9012Test -
9
المؤلفون: Lucía Galán Dávila
المصدر: Revista de Neurología. 42:641
مصطلحات موضوعية: Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::28ddded51085573b8272c5ce17e78822Test
https://doi.org/10.33588/rn.4211.2006202Test -
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المؤلفون: Rosa Ana Saiz Díaz, Jesús Porta Etessam, Carlos I. Gómez Escalonilla, Guillermo Parrilla, José Antonio Molina Arjona, Irene García Morales, Lucía Galán Dávila
المصدر: Revista de Neurología. 29:1346
مصطلحات موضوعية: Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::11e577a7150f81508a3dabac3e834b7eTest
https://doi.org/10.33588/rn.2912.99413Test