Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Giorgia, Querin"'
Autor:
Lorenzo Blasi, Daniele Sabbatini, Andrea Fortuna, Giorgia Querin, Ilaria Martinelli, Sara Vianello, Cinzia Bertolin, Davide Pareyson, Maria Pennuto, Elena Pegoraro, Luca Bello, Gianni Sorarù
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
Abstract Serum creatinine has been indicated as a potential marker of motor function in SBMA and results form previous longitudinal studies pointed to its decline over time. This is a longitudinal retrospective study investigating creatinine changes
Externí odkaz:
https://doaj.org/article/235f22822deb4df9bceedd58a3147aac
Autor:
Laura Le Gall, William J. Duddy, Cecile Martinat, Virginie Mariot, Owen Connolly, Vanessa Milla, Ekene Anakor, Zamalou G. Ouandaogo, Stephanie Millecamps, Jeanne Lainé, Udaya Geetha Vijayakumar, Susan Knoblach, Cedric Raoul, Olivier Lucas, Jean Philippe Loeffler, Peter Bede, Anthony Behin, Helene Blasco, Gaelle Bruneteau, Maria Del Mar Amador, David Devos, Alexandre Henriques, Adele Hesters, Lucette Lacomblez, Pascal Laforet, Timothee Langlet, Pascal Leblanc, Nadine Le Forestier, Thierry Maisonobe, Vincent Meininger, Laura Robelin, Francois Salachas, Tanya Stojkovic, Giorgia Querin, Julie Dumonceaux, Gillian Butler Browne, Jose‐Luis González De Aguilar, Stephanie Duguez, Pierre Francois Pradat
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1385-1402 (2022)
Abstract Background The cause of the motor neuron (MN) death that drives terminal pathology in amyotrophic lateral sclerosis (ALS) remains unknown, and it is thought that the cellular environment of the MN may play a key role in MN survival. Several
Externí odkaz:
https://doaj.org/article/261a53bffa414819a14cb82060834ea9
Akademický článek
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Autor:
Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede, Claude Desnuelle, on behalf of the French Kennedy’s Disease Writing Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Abstract Background Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objecti
Externí odkaz:
https://doaj.org/article/53385653b6f54dc88c82f8af909bb4bc
Autor:
Vera Bril, Artur Drużdż, Julian Grosskreutz, Ali A Habib, Renato Mantegazza, Sabrina Sacconi, Kimiaki Utsugisawa, John Vissing, Tuan Vu, Marion Boehnlein, Ali Bozorg, Maryam Gayfieva, Bernhard Greve, Franz Woltering, Henry J Kaminski, Angela Genge, Rami Massie, Maxime Berube, Lubna Daniyal, Shabber Mannan, Eduardo Ng, Ritesh Rohan Raghu Raman, Evelyn Sarpong, Monica Alcantara, Annie Dionne, Zaeem Siddiqi, Derrick Blackmore, Faraz Hussain, Genevieve Matte, Stephan Botez, Michaela Tyblova, Michala Jakubikova, Jana Junkerova, Nanna Witting, Sonja Holm-Yildiz, Mads Stemmerik, Henning Andersen, Izabella Obál, Guilhem Solé, Stéphane Mathis, Marie-Hélène Violleau, Christine Tranchant, Sihame Messai, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Arnaud Verloes, Leila Zaidi, Manuela Gambella, Michele Cavalli, Tanya Stojkovic, Sophie Demeret, Loic Le Guennec, Giorgia Querin, Nicolas Weiss, Marion Masingue, Laurent Magy, Karima Ghorab, Ia Rukhadze, Alexander Tsiskaridze, Marina Janelidze, Temur Margania, Florian Then Bergh, Eike Hänsel, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Lars-Malte Teußer, Astrid Unterlauft, Clemens Goedel, Tim Hagenacker, Andreas Totzeck, Benjamin Stolte, Franz Blaes, Christine Bindler, Vasilios Tsoutsikas, Annekathrin Roediger, Christian Geis, Jens Schmidt, Jana Zschüntzsch, Margret Schwarz, Stefanie Meyer, Karsten Kummer, Stefanie Glaubitz, Rachel Zeng, Heinz Wiendl, Luisa Klotz, Anna Lammerskitten, Jan Lünemann, Péter Diószeghy, Lorenzo Maggi, Elena Rinaldi, Matteo Gastaldi, Federico Mazzacane, Pietro Businaro, Raffaele Iorio, Giovanni Antonini, Laura Fionda, Rita Rinaldi, Simone Rossi, Francesco Habetswallner, Francesco Tuccillo, Haruna Umehara, Eiko Uenaka, Masanori Takahashi, Keiko Higashi, Makoto Kinoshita, Emika Yoneda, Noriko Nakamura, Saeka Fujita, Tomoya Kubota, Masami Ono, Sana Yamamoto, Taku Hatano, Kazuki Oikoshi, Kazumasa Yokoyama, Yutaka Oji, Yuji Tomizawa, Akiyuki Uzawa, Manato Yasuda, Sachiko Akita, Yukiko Ozawa, Yosuke Onishi, Miki Takaki, Hiromi Yamada, Kanako Minemoto, Miki Sanko, Nanae Izawa, Mayumi Nakayama, Masayuki Masuda, Rune Tsuji, Nobuhiro Ido, Yumi Hyodo, Yoshihiko Okubo, Akiko Minohara, Nana Haraguchi, Makiko Naito, Seiko Yoshida, Yuri Fukushige, Akira Tsujino, Atsushi Nagaoka, Teiichiro Miyazaki, Shunsuke Yoshimura, Takuro Hirayama, Tomoaki Shima, Naoko Okamoto, Riki Matsumoto, Kenji Sekiguchi, Takehiro Ueda, Norio Chihara, Mari Kirimura, Emi Sunagawa, Ayaka Suzuki, Shigeaki Suzuki, Aozora Wada, Kei Ishizuchi, Yasushi Suzuki, Mitsuo Yata, Yuka Komatsu, Kenichi Tsukita, Genya Watanabe, Kazuki Sato, Emiko Kawasaki, Naoki Yamamoto, Hirohiko Ono, Tomoko Tsuda, Shigeki Ohashi, Yuka Fujisawa, Yumiko Yokota, Yuriko Nagane, Kameda Ayumi, Yuka Takematsu, Hiroyuki Naito, Kumiko Kuwada, Konrad Rejdak, Sebastian Szklener, Monika Kitowska, Kandyda Derkacz, Tomasz Berkowicz, Paulina Budzinska, Marek Halas, Leonid Zaslavskiy, Evgeniya Skornyakova, Sergey Kotov, Ekaterina Novikova, Olga Sidorova, Vitalii Goldobin, Tatiana Alekseeva, Patimat Isabekova, Nadezhda Malkova, Denis Korobko, Gordana Djordjevic, Aleksandar Stojanov, Stojan Peric, Dragana Lavrnic, Ivo Bozovic, Aleksa Palibrk, Carlos Casasnovas, Velina Nedkova-Hristova, Nuria Vidal Fernández, Elena Cortés Vicente, Luis Querol Gutiérrez, Maria Salvadó Figueras, Anna Canovas Segura, Raúl Juntas Morales, Daniel Sanchez Tejerina, Albert Saiz, Yolanda Blanco Morgado, Sara Llufriú Durán, María Sepúlveda Gázquez, Eugenia María Martínez Hernández, Gerardo Gutiérrez Gutiérrez, Paqui Iniesta, José Meca Lallana, Yuh-Cherng Guo, Hou-Chang Chiu, Jiann-Horng Yeh, Ya Hui Chen, Mei Fen Lee, Yi-Chung Lee, Kuan Lin Lai, Said Beydoun, Salma Akhter, Lucy Lam, Alisha Thomas, Michael Rivner, Brandy Quarles, Dale Lange, Shara Holzberg, Pantelis Pavlakis, Ashwathy Goutham, Henry Kaminski, Radwa Aly, Lisa Ashworth, Kathryn Bender, Karie Bond, Joanne Buckner, Sara Byerly, James Caress, Jessyca Clemons, Asha Farmer, Catherine Franklin, Summer Harris, Meredith Hiatt, Rachana Gandhi Mehta, Gina Miller, Lynn Smith, Rose Smith, Brian Strittmatter, Tahseen Mozaffar, Isela Hernandez, Kelsey Moulton, Chafic Karam, Pranali Ravikumar, Catherine Lomen-Hoerth, Laura Rosow, Hannah George, Viktoriya Irodenko, Carol Denny, Bart Hanson, Sara Klein, Jennifer Martinez-Thompson, Elie Naddaf, Denny Padgett, Eric Sorenson, Jane L Sultze, Delena Weis, Kourosh Rezania, Jason Thonhoff, Sheetal Shroff, Robert Pascuzzi, Angela Micheels, Cynthia Bodkin, Adam Comer, Gelasio Baras, Renee Wagner, Zabeen Mahuwala, Stephen Ryan, Kai Su, Khema Sharma, Andrew Brown, Kore Liow
Publikováno v:
The Lancet Neurology. 22:383-394
Autor:
Letizia Mazzini, Maurizio Gelati, Daniela Celeste Profico, Gianni Sorarù, Daniela Ferrari, Massimiliano Copetti, Gianmarco Muzi, Claudia Ricciolini, Sandro Carletti, Cesare Giorgi, Cristina Spera, Domenico Frondizi, Stefano Masiero, Alessandro Stecco, Carlo Cisari, Enrica Bersano, Fabiola De Marchi, Maria Francesca Sarnelli, Giorgia Querin, Roberto Cantello, Francesco Petruzzelli, Annamaria Maglione, Cristina Zalfa, Elena Binda, Alberto Visioli, Domenico Trombetta, Barbara Torres, Laura Bernardini, Alessandra Gaiani, Maurilio Massara, Silvia Paolucci, Nicholas M. Boulis, Angelo L. Vescovi, on behalf of the ALS‐NSCs Trial Study Group
Publikováno v:
Stem Cells Translational Medicine, Vol 8, Iss 9, Pp 887-897 (2019)
Abstract The main objective of this phase I trial was to assess the feasibility and safety of microtransplanting human neural stem cell (hNSC) lines into the spinal cord of patients with amyotrophic lateral sclerosis (ALS). Eighteen patients with a d
Externí odkaz:
https://doaj.org/article/1b266c15eb0b4c92a1cb1b70a47533cf
Autor:
Andrew L Mammen, Anthony A Amato, Mazen M Dimachkie, Hector Chinoy, Yessar Hussain, James B Lilleker, Iago Pinal-Fernandez, Yves Allenbach, Babak Boroojerdi, Mark Vanderkelen, Eumorphia Maria Delicha, Harold Koendgen, Ramin Farzaneh-Far, Petra W Duda, Camil Sayegh, Olivier Benveniste, Anthony A. Amato, Suur Biliciler, Mazen M. Dimachkie, Christyn Edmundson, Miriam Freimer, Anthony Geraci, Pedro Machado, Andrew L. Mammen, Tahseen Mozaffar, Payam Soltanzadeh, Niraja Suresh, Anneke van der Kooi, Matthew Appleby, Richard J Barohn, Nicolas Champtiaux, Christopher Doughty, Jerrica Farias, Constantine Farmakidis, Ali A. Habib, Chafic Karam, James Lilleker, Samantha Lorusso, Mamatha Pasnoor, Giorgia Querin, Joost Raaphorst, George Ransley, Sami Saba, Kazim Sheikh, Andrew Snedden, Jeffrey Statland, Tuan Vu
Publikováno v:
The Lancet Rheumatology, 5(2), e67-e76. Lancet Publishing Group
Background: Immune-mediated necrotising myopathy is an autoimmune myopathy characterised by proximal muscle weakness, high creatine kinase concentrations, and autoantibodies recognising 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) or the s
Autor:
Rabab Debs, Jean-Yves Hogrel, Gaëlle Bruneteau, Nadine Le Forestier, Peter Bede, Pascal Laforêt, Sophie Blancho, Anthony Behin, Timothée Lenglet, Véronique Marchand-Pauvert, François Salachas, Giorgia Querin, Pierre-François Pradat, Tanya Stojkovic, Maria del Mar Amador
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1792-1802. ⟨10.1007/s00415-020-10332-5⟩
Journal of Neurology, 2021, 268 (5), pp.1792-1802. ⟨10.1007/s00415-020-10332-5⟩
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1792-1802. ⟨10.1007/s00415-020-10332-5⟩
Journal of Neurology, 2021, 268 (5), pp.1792-1802. ⟨10.1007/s00415-020-10332-5⟩
International audience; Objective: The aim of this study was the comprehensive characterisation of longitudinal clinical, electrophysiological and neuroimaging measures in type III and IV adult spinal muscular atrophy (SMA) with a view to propose obj
Autor:
Francesca Trojsi, Mattia Siciliano, Cinzia Femiano, Gabriella Santangelo, Christian Lunetta, Andrea Calvo, Cristina Moglia, Kalliopi Marinou, Nicola Ticozzi, Christian Ferro, Carlo Scialò, Gianni Sorarù, Amelia Conte, Yuri M. Falzone, Rosanna Tortelli, Massimo Russo, Valeria Ada Sansone, Adriano Chiò, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Mario Sabatelli, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Jessica Mandrioli
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
We investigated whether the C9orf72 repeat expansion is associated with specific clinical features, comorbidities, and prognosis in patients with amyotrophic lateral sclerosis (ALS). A cohort of 1417 ALS patients, diagnosed between January 1, 2009 an
Externí odkaz:
https://doaj.org/article/187eb7f439f54cc7a5f8a7fe0c6dd03f
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Amyotrophic lateral sclerosis (ALS) is the most common adult onset motor neuron disease with no effective disease modifying therapies at present. Spinal cord degeneration is a hallmark feature of ALS, highlighted in the earliest descriptions of the d
Externí odkaz:
https://doaj.org/article/d81b2994aa354e1b9462f67c46d95889