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1دورية أكاديمية
المؤلفون: Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, Alfredo Iacoangeli, Nancy Y. Yacovzada, Chen Eitan, Eran Hornstein, Eran Ehilak, Petra Celadova, Daniel Bose, Sali Farhan, Simon Fishilevich, Doron Lancet, Karen E. Morrison, Christopher E. Shaw, Ammar Al-Chalabi, Jan H. Veldink, Janine Kirby, Michael P. Snyder, Pamela J. Shaw, Ian Blair, Naomi Wray, Matthew Kiernan, Miguel Mitne Neto, Adriano Chio, Ruben Cauchi, Wim Robberecht, Philip van Damme, Phillippe Corcia, Phillipe Couratier, Orla Hardiman, Russel McLaughlin, Marc Gotkine, Vivan Drory, Nicola Ticozzi, Vincenzo Silani, Jan Veldink, Leonard van den Berg, Mamede de Carvalho, Jesus Mora Pardina, Monica Povedano, Peter Andersen, Markus Wber, Nazli Başak, Christopher Shaw, Pamela Shaw, Karen Morrison, John Landers, Jonathan Glass
المصدر: Cell Reports, Vol 33, Iss 9, Pp 108456- (2020)
مصطلحات موضوعية: amyotrophic lateral sclerosis, whole-genome sequencing, CAV1, CAV2, non-coding DNA, gene enhancers, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124720314455Test; https://doaj.org/toc/2211-1247Test
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2دورية أكاديمية
المؤلفون: Clint Mizzi, Eleni Dalabira, Judit Kumuthini, Nduna Dzimiri, Istvan Balogh, Nazli Başak, Ruwen Böhm, Joseph Borg, Paola Borgiani, Nada Bozina, Henrike Bruckmueller, Beata Burzynska, Angel Carracedo, Ingolf Cascorbi, Constantinos Deltas, Vita Dolzan, Anthony Fenech, Godfrey Grech, Vytautas Kasiulevicius, Ľudevít Kádaši, Vaidutis Kučinskas, Elza Khusnutdinova, Yiannis L Loukas, Milan Macek, Halyna Makukh, Ron Mathijssen, Konstantinos Mitropoulos, Christina Mitropoulou, Giuseppe Novelli, Ioanna Papantoni, Sonja Pavlovic, Giuseppe Saglio, Jadranka Sertić, Maja Stojiljkovic, Andrew P Stubbs, Alessio Squassina, Maria Torres, Marek Turnovec, Ron H van Schaik, Konstantinos Voskarides, Salma M Wakil, Anneke Werk, Maria Del Zompo, Branka Zukic, Theodora Katsila, Ming Ta Michael Lee, Alison Motsinger-Rief, Howard L Mc Leod, Peter J van der Spek, George P Patrinos
المصدر: PLoS ONE, Vol 12, Iss 2, p e0172595 (2017)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC5313168?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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3دورية أكاديمية
المؤلفون: Clint Mizzi, Eleni Dalabira, Judit Kumuthini, Nduna Dzimiri, Istvan Balogh, Nazli Başak, Ruwen Böhm, Joseph Borg, Paola Borgiani, Nada Bozina, Henrike Bruckmueller, Beata Burzynska, Angel Carracedo, Ingolf Cascorbi, Constantinos Deltas, Vita Dolzan, Anthony Fenech, Godfrey Grech, Vytautas Kasiulevicius, Ľudevít Kádaši, Vaidutis Kučinskas, Elza Khusnutdinova, Yiannis L Loukas, Milan Macek, Halyna Makukh, Ron Mathijssen, Konstantinos Mitropoulos, Christina Mitropoulou, Giuseppe Novelli, Ioanna Papantoni, Sonja Pavlovic, Giuseppe Saglio, Jadranka Setric, Maja Stojiljkovic, Andrew P Stubbs, Alessio Squassina, Maria Torres, Marek Turnovec, Ron H van Schaik, Konstantinos Voskarides, Salma M Wakil, Anneke Werk, Maria Del Zompo, Branka Zukic, Theodora Katsila, Ming Ta Michael Lee, Alison Motsinger-Rief, Howard L Mc Leod, Peter J van der Spek, George P Patrinos
المصدر: PLoS ONE, Vol 11, Iss 9, p e0162866 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC5026342?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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4دورية أكاديمية
المؤلفون: Eva‐Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad‐Annuar, Bashayer Al‐Mubarak, Roy N. Alcalay, Victoria Álvarez, Ignacio Amorín, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A. Barker, Melinda Barkhuizen, A. Nazlı Başak, Vincenzo Bonifati, Agnita J.W. Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimón, Mario Cornejo‐Olivas, Leonor Correia Guedes, Jean‐Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patrícia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim J. Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez‐Garre, Haşmet Hanağası, Nobutaka Hattori, Fayçal Hentati, Dorota Hoffman‐Zacharska, С.Н. Иллариошкин, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke J.A. Kievit, Péter Klivényi, Vladimir Kostić, Dariusz Koziorowski, Andrea A. Kühn
مصطلحات موضوعية: Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Autism Spectrum Disorders, Cognitive Neuroscience, Neuroscience, Pathophysiology of Parkinson's Disease, Neurology, Medicine, Health Sciences, Neurodegeneration, Parkinson's Disease, Resource disambiguation, Pace, Biorepository, Disease, Clinical trial, White paper, Inclusion mineral, Bioinformatics, FOS Computer and information sciences, Biobank, Psychology, FOS Psychology, Computer science, Political science, FOS Political science, Geography, Biology
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5دورية أكاديمية
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: Brody Disease, Brody Myopathy, ATP2A1, SERCA1, rare disease, whole-exome sequencing, Genetics, QH426-470
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1289312/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/aa092dad6c8b4eb79a3815d551600d82Test
الإتاحة: https://doi.org/10.3389/fgene.2023.1289312Test
https://doaj.org/article/aa092dad6c8b4eb79a3815d551600d82Test -
6دورية أكاديمية
المؤلفون: Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein
المصدر: PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)
العلاقة: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0292180&type=printableTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/58585cdc8b73494895f8856cace8556bTest
الإتاحة: https://doi.org/10.1371/journal.pone.0292180Test
https://doaj.org/article/58585cdc8b73494895f8856cace8556bTest -
7دورية أكاديمية
المؤلفون: Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal, A. Nazlı Başak
المصدر: Frontiers in Genetics, Vol 14 (2023)
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1208673/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/989a8d64fb9e49da98a4cb39eace1d5eTest
الإتاحة: https://doi.org/10.3389/fgene.2023.1208673Test
https://doaj.org/article/989a8d64fb9e49da98a4cb39eace1d5eTest -
8دورية أكاديمية
المؤلفون: Duygu Aydemir, Selcuk Surucu, Ayse Nazli Basak, Nuriye Nuray Ulusu
المصدر: Cells; Volume 11; Issue 22; Pages: 3569
مصطلحات موضوعية: ALS, serum biochemistry, hematological parameters, early diagnosis, pre-symptomatic, symptomatic
وصف الملف: application/pdf
العلاقة: Cellular Pathology; https://dx.doi.org/10.3390/cells11223569Test
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9دورية أكاديمية
المؤلفون: Belgin Sever, Halilibrahim Ciftci, Hasan DeMirci, Hilal Sever, Firdevs Ocak, Burak Yulug, Hiroshi Tateishi, Takahisa Tateishi, Masami Otsuka, Mikako Fujita, Ayşe Nazlı Başak
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 5; Pages: 2400
مصطلحات موضوعية: amyotrophic lateral sclerosis (ALS), oxidative stress, protein aggregation, glutamate excitotoxicity, apoptosis, neuroinflammation, axonal degeneration, edaravone, riluzole, induced pluripotent stem cells (iPSCs)
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms23052400Test
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10دورية أكاديميةOphthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
المصدر: Türk Nöroloji Dergisi, Vol 28, Iss 1, Pp 57-58 (2022)
مصطلحات موضوعية: electroretinogram, visual evoked potential, spastic ataxia type 8, nkx6-2 gene mutation, Medicine, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-00483Test; https://doaj.org/toc/1309-2545Test; https://doaj.org/article/5485e80c52b64de1bfdcaef3de08b317Test
الإتاحة: https://doi.org/10.4274/tnd.2022.00483Test
https://doaj.org/article/5485e80c52b64de1bfdcaef3de08b317Test