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1دورية أكاديمية
المؤلفون: Andrzej Małecki, Janina Skipor-Lahuta, Michal Toborek, N. Joan Abbott, David A. Antonetti, Enming Joe Su, Daniel A. Lawrence, Müge Atış, Uğur Akcan, Canan Uğur Yılmaz, Nurcan Orhan, Poyraz Düzgün, Umut Deniz Ceylan, Nadir Arıcan, Serçin Karahüseyinoğlu, Gizem Nur Şahin, Bülent Ahıshalı, Mehmet Kaya, Sidar Aydin, Armelle Klopstein, Britta Engelhardt, Julia Baumann, Chih-Chieh Tsao, Sheng-Fu Huang, Omolara Ogunshola, Elizaveta B. Boytsova, Andrey V. Morgun, Elena D. Khilazheva, Elena A. Pozhilenkova, Yana V. Gorina, Galina P. Martynova, Alla B. Salmina, David Bueno, Jordi Garcia-Fernàndez, Victor Castro, Marta Skowronska, Matheus Uba Chupel, Luciele Guerra Minuzzi, Edith Filaire, Ana Maria Teixeira, Mariangela Corsi, Romain Versele, Andrea Fuso, Emmanuel Sevin, Cherubino Di Lorenzo, Rita Businaro, Laurence Fenart, Fabien Gosselet, Pietra Candela, Mária A. Deli, Conor Delaney, Eoin O’Keefe, Michael Farrell, Sarah Doyle, Matthew Campbell, Lester R. Drewes, A. Appelt-Menzel, A. Cubukova, M. Metzger, R. Fischer, David M. F. Francisco, Rémy Bruggmann, Alexa Fries, Kinga G. Blecharz, Josephin Wagner, Lars Winkler, Ulf Schneider, Peter Vajkoczy, Mikio Furuse, Lydia Gabbert, Christina Dilling, Dmitri Sisario, Vladimir Soukhoroukov, Malgorzata Burek, S. Guérit, E. Fidan, K. Devraj, C. J. Czupalla, J. Macas, S. Thom, K. H. Plate, H. Gerhardt, S. Liebner, András Harazin, Alexandra Bocsik, Judit Váradi, Ferenc Fenyvesi, Vilmos Tubak, Miklós Vecsernyés, Hans Christian Helms, Helle Sønderby Waagepetersen, Carsten Uhd Nielsen, Birger Brodin, Zsófia Hoyk, Melinda E. Tóth, Nikolett Lénárt, Brigitta Dukay, Ágnes Kittel, Judit Vígh, Szilvia Veszelka, Fruzsina Walter, Ágnes Zvara, László Puskás, Miklós Sántha, Sabrina Engelhardt, Omolara O. Ogunshola, Anna Huber, Alexander Reitner, Samar Osmen, Kathrin Hahn, Neli Bounzina, Anna Gerhartl, Anna Schönegger, Hannes Steinkellner, Franco Laccone, Winfried Neuhaus, Natalie Hudson, Lucia Celkova, Anne Iltzsche, Svetlana Drndarski, David J Begley, Mette Mathiesen Janiurek, Krzysztof Kucharz, Christina Christoffersen, Lars Bo Nielsen, Martin Lauritzen, Rebecca H Johnson, Dan T Kho, Simon J O’Carroll, Catherine E Angel, E. Scott Graham, Jennifer Pereira, Christina Simoglou Karali, Vinton Cheng, Niloufar Zarghami, Manuel Sarmiento Soto, Yvonne Couch, Daniel C. Anthony, Nicola R. Sibson, John Kealy, Richard F. Keep, Lisa J. Routhe, Jianming Xiang, Hong Ye, Ya Hua, Torben Moos, Guohua Xi, M. Kristensen, A. Bach, K. Strømgaard, Nikolay Kutuzov, Melissa A. Lopes-Pinheiro, Jamie Lim, Alwin Kamermans, Jack van Horssen, Wendy W.J. Unger, Ruud Fontijn, Helga E. de Vries, Petra Majerova, Ralph M. Garruto, Luca Marchetti, David Francisco, Isabelle Gruber, Ruth Lyck, Mária Mészáros, Gergő Porkoláb, Lóránd Kiss, Ana-Maria Pilbat, Zsolt Török, Zsolt Bozsó, Lívia Fülöp, Alena Michalicova, Jaroslav Galba, Sandra Mihaljevic, Michal Novak, Andrej Kovac, Yoichi Morofuji, Takashi Fujimoto, Daisuke Watanabe, Shinsuke Nakagawa, Kenta Ujifuku, Nobutaka Horie, Tsuyoshi Izumo, Takeo Anda, Takayuki Matsuo, Fang Niu, Shilpa Buch, Ádám Nyúl-Tóth, Mihály Kozma, Péter Nagyőszi, Krisztina Nagy, Csilla Fazakas, János Haskó, Kinga Molnár, Attila E. Farkas, Péter Galajda, Imola Wilhelm, István A. Krizbai, Eoin Kelly, Eugene Wallace, Chris Greene, Stephanie Hughes, Niamh Doyle, Marian M. Humphries, Gerald A. Grant, Alon Friedman, Ronel Veksler, Michael G. Molloy, James F. Meaney, Niall Pender, Colin P. Doherty, Minseon Park, Arkadiusz Liskiewicz, Marta Przybyla, Daniela Kasprowska-Liśkiewicz, Marta Nowacka-Chmielewska, Andrzej Malecki, Ana Pombero, Raquel Garcia-Lopez, Marta Martinez-Morga, Salvador Martinez, Ofer Prager, Lyna Solomon-Kamintsky, Karl Schoknecht, Guy Bar-Klein, Dan Milikovsky, Udi Vazana, Dror Rosenbach, Richard Kovács, Zsolt Radak, Sabela Rodríguez-Lorenzo, Remy Bruggmann, Gijs Kooij, Helga E de Vries, Semyachkina-Glushkovskaya Oxana, Bragin Denis, Vodovozova Elena, Alekseeva Anna, Salmina Alla, Salmin Vladimir, Morgun Andrey, Malinovskaya Nataliya, Khilazheva Elena, Boytsova Elizaveta, Shirokov Alexander, Navolokin Nikita, Bucharskaya Alla, Yang Yirong, Abdurashitov Arkady, Gekalyuk Artem, Ulanova Mariya, Shushunova Anastasia, Bodrova Madina, Sagatova Artem, Khorovodov Alexander, Shareef Ali Esmat, Pavlov Valery, Tuchin Artem, Kurths Jürgen, Marcelle Silva de Abreu, Ana C. Calpena, Marta Espina, Maria Luisa García, Ignacio A. Romero, David Male, Steffen Storck, Anika Hartz, Jens Pahnke, Claus U. Surma, M. Surma, Z. Giżejewski, H. Zieliński, Aleksandra Szczepkowska, Marta Kowalewska, Agata Krawczynska, Andrzej P. Herman, Janina Skipor, Nicole Kachappilly, Mike Veenstra, Rosiris Leon Rivera, Dionna W. Williams, Susan Morgello, Joan W. Berman, Ursula Wyneken, Luis Federico Batiz, Arzu Temizyürek, Rouhollah Khodadust, Mutlu Küçük, Candan Gürses, Serkan Emik, Magdalena Zielińska, Marta Obara-Michlewska, Krzysztof Milewski, Edyta Skonieczna, Inez Fręśko, Edward A. Neuwelt, Ana Raquel Santa Maria, Ana Rita Bras, Dóra Lipka, Sándor Valkai, András Kincses, András Dér, Maria A. Deli
المصدر: Fluids and Barriers of the CNS, Vol 14, Iss S2, Pp 1-23 (2017)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12987-017-0071-4Test; https://doaj.org/toc/2045-8118Test
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المؤلفون: Alexander V. Beribisky, Hannes Steinkellner, Sofia Geislberger, Anna Huber, Victoria Sarne, John Christodoulou, Franco Laccone
المصدر: The Protein Journal. 41:345-359
مصطلحات موضوعية: Cell Nucleus, Mice, Methyl-CpG-Binding Protein 2, Mutation, Organic Chemistry, Rett Syndrome, Animals, Humans, Bioengineering, Prospective Studies, Biochemistry, Analytical Chemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a9ecc8c3149252ef087649b1f803608Test
https://doi.org/10.1007/s10930-022-10054-9Test -
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المؤلفون: Hannes Steinkellner, Prakasha Kempaiah, Alexander V. Beribisky, Sandra Pferschy, Julia Etzler, Anna Huber, Victoria Sarne, Winfried Neuhaus, Mario Kuttke, Jan Bauer, Jayamuruga P. Arunachalam, John Christodoulou, Ralf Dressel, Alexander Mildner, Marco Prinz, Franco Laccone
المصدر: International journal of biological macromolecules. 209
مصطلحات موضوعية: Disease Models, Animal, Mice, Phenotype, Structural Biology, Methyl-CpG-Binding Protein 2, Gene Products, tat, Mutation, Rett Syndrome, Animals, Humans, General Medicine, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4020cc67cbf55de8e9a68f6ba490c1abTest
https://pubmed.ncbi.nlm.nih.gov/35460749Test -
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المؤلفون: Barbara Scheiber-Mojdehkar, Anna Huber, Victoria Sarne, John Christodoulou, Alexander V. Beribisky, Philip Mausberg, Franco Laccone, Hannes Steinkellner
المصدر: Journal of visualized experiments : JoVE. (159)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, General Chemical Engineering, Endogeny, Brain tissue, General Biochemistry, Genetics and Molecular Biology, law.invention, Transduction (genetics), Mice, Protein replacement therapy, law, mental disorders, Electrochemistry, Electrochemiluminescence, Animals, General Immunology and Microbiology, Chemistry, General Neuroscience, Brain, MeCP2 Protein, Fibroblasts, nervous system diseases, Transport protein, Protein Transport, Biochemistry, Luminescent Measurements, Recombinant DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70c2be29272006fd2ae73861e71da3f9Test
https://pubmed.ncbi.nlm.nih.gov/32510486Test -
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المؤلفون: Rajeswari R. Moganty, Hans Goldenberg, Barbara Scheiber-Mojdehkar, Hannes Steinkellner, Himanshu Narayan Singh, Brigitte Sturm, Martina U. Muckenthaler
المصدر: Gene. 621:5-11
مصطلحات موضوعية: 0301 basic medicine, Ataxia, Iron, Protoporphyrins, Heme, Hemoglobins, 03 medical and health sciences, chemistry.chemical_compound, Iron-Binding Proteins, Genetics, medicine, Humans, Erythropoiesis, Cells, Cultured, Erythroid Precursor Cells, Protoporphyrin IX, biology, Microarray analysis techniques, General Medicine, Ferrochelatase, Molecular biology, Oxidative Stress, 030104 developmental biology, chemistry, Friedreich Ataxia, Case-Control Studies, Frataxin, biology.protein, Hemoglobin, medicine.symptom, Stem cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c007e3b402949190beb967932bcd18aTest
https://doi.org/10.1016/j.gene.2017.04.014Test -
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المؤلفون: Galina P. Martynova, Anna Gerhartl, Arkadiusz Liskiewicz, Candan Gürses, David Bueno, Jens Pahnke, Mie Kristensen, Andrzej Małecki, Claus U. Surma, Edward A. Neuwelt, Lars Bo Nielsen, Sándor Valkai, László Puskás, Gerald A. Grant, Petra Majerova, Fruzsina R. Walter, Wendy W.J. Unger, Sercin Karahuseyinoglu, Matheus Uba Chupel, Inez Fręśko, Semyachkina-Glushkovskaya Oxana, Marta Martinez-Morga, Shinsuke Nakagawa, Marian M. Humphries, Niamh Doyle, Shareef Ali Esmat, A. Cubukova, Sabela Rodríguez-Lorenzo, Pietra Candela, James F. Meaney, Dóra V Lipka, Ruud D Fontijn, Malinovskaya Nataliya, Salmina Alla, H. Zieliński, Chih-Chieh Tsao, Svetlana Drndarski, Raquel Garcia-Lopez, Alon Friedman, Pavlov Valery, David A. Antonetti, Kinga G. Blecharz, Nobutaka Horie, Anna Huber, Ana Raquel Santa Maria, Mária Mészáros, Marco Metzger, Sonja Thom, Ronel Veksler, Vilmos Tubak, Emmanuel Sevin, Magdalena Zielińska, Holger Gerhardt, Samar Osmen, Bucharskaya Alla, Nadir Arican, Zsolt Török, Bragin Denis, David J. Begley, Szilvia Veszelka, Marta Kowalewska, Torben Moos, Takayuki Matsuo, Cathrin J. Czupalla, Vladimir Soukhoroukov, Alena Michalicova, Krzysztof Milewski, Chris H. Greene, Jianming Xiang, Alla B. Salmina, Mike Veenstra, Andrea Fuso, Lester R. Drewes, Peter Galajda, Udi Vazana, Christina Dilling, Gizem Nur Sahin, Guohua Xi, N. Joan Abbott, Conor Delaney, Natalie Hudson, Malgorzata Burek, Lisa Juul Routhe, Sabrina Engelhardt, Janina Skipor, Enming Joe Su, Simon J. O'Carroll, István A. Krizbai, Gergő Porkoláb, Tsuyoshi Izumo, Romain Versele, Poyraz Düzgün, Kenta Ujifuku, Mariangela Corsi, Dan Z. Milikovsky, Ana-Maria Pilbat, Muge Atis, Nurcan Orhan, Agata Krawczynska, Mária A. Deli, Dmitri Sisario, Isabelle Gruber, Andrej Kovac, Manuel Sarmiento Soto, Anna Schönegger, E. Scott Graham, Marta Skowrońska, Yana V. Gorina, Hans Christian Cederberg Helms, Minseon Park, András Kincses, Niloufar Zarghami, Judit Váradi, Michael G. Molloy, Michal Toborek, Anne Iltzsche, Anika M.S. Hartz, Sarah L. Doyle, Yoichi Morofuji, Zsolt Bozsó, Joan W. Berman, Morgun Andrey, Elizaveta B. Boytsova, Nicole Kachappilly, Susan Morgello, Ursula Wyneken, Gekalyuk Artem, Sheng-Fu Huang, Miklós Vecsernyés, David Male, John Kealy, Khorovodov Alexander, Victor Castro, Shushunova Anastasia, Bodrova Madina, Jaroslav Galba, Luciele Guerra Minuzzi, Karl-Heinz Plate, Helle S. Waagepetersen, Nicola R. Sibson, Janina Skipor-Lahuta, Khilazheva Elena, Ferenc Fenyvesi, Alwin Kamermans, Marta Nowacka-Chmielewska, Fang Niu, Rouhollah Khodadust, Josephin Wagner, Loránd Kiss, Lyna Solomon-Kamintsky, Peter Vajkoczy, Daniel A. Lawrence, Alexander Reitner, Niall Pender, Lucia Celkova, Sidar Aydin, Mikio Furuse, Kavi Devraj, Christina Simoglou Karali, Andrey V. Morgun, Aleksandra Szczepkowska, Guy Bar-Klein, Krzysztof Kucharz, Ádám Nyúl-Tóth, Lívia Fülöp, Martin Lauritzen, Yvonne Couch, Rémy Bruggmann, Mihály Kozma, Marta Obara-Michlewska, Julia Baumann, Franco Laccone, Hannes Steinkellner, A. Appelt-Menzel, Catherine E. Angel, Colin P. Doherty, Dan T Kho, Attila Farkas, Kathrin Hahn, Omolara Ogunshola, Arzu Temizyurek, Roman Fischer, Melissa A. Lopes-Pinheiro, Armelle Klopstein, Vodovozova Elena, Zsolt Radak, Sylvaine Guérit, Mehmet Kaya, Dror Rosenbach, Nikolay Kutuzov, M. Surma, Carsten Uhd Nielsen, Takeo Anda, Rita Businaro, Navolokin Nikita, Jennifer Pereira, András Dér, Alekseeva Anna, Kurths Jürgen, Richard F. Keep, Dionna W. Williams, Stefan Liebner, Nikolett Lénárt, Melinda E. Tóth, Edith Filaire, Boytsova Elizaveta, Elena D. Khilazheva, Ana Rita Bras, Péter Nagyőszi, Alexa Fries, Edyta Skonieczna, Bulent Ahishali, Daniel C. Anthony, Mutlu Küçük, Lydia Gabbert, Shirokov Alexander, Canan Yilmaz, Lars Winkler, A. Bach, Ulanova Mariya, Eoin Kelly, Rosiris Leon Rivera, Luca Marchetti, Hong Ye, Tuchin Artem, Jamie Lim, Helga E. de Vries, Salvador Martinez, Ágnes Kittel, Ágnes Zvara, Imola Wilhelm, Steffen E. Storck, Ana Pombero, Matthew Campbell, Luis Federico Bátiz, Sandra Mihaljevic, Laurence Fenart, Jordi Garcia-Fernàndez, Ignacio A. Romero, Birger Brodin, Daniela Kasprowska-Liśkiewicz, Brigitta Dukay, David M. F. Francisco, Karl Schoknecht, Ana C. Calpena, Neli Bounzina, Eugene Wallace, Ofer Prager, Jack van Horssen, Abdurashitov Arkady, Kinga Molnár, Michael Farrell, Miklós Sántha, Shilpa Buch, Marta Espina, Salmin Vladimir, Ya Hua, Serkan Emik, Ulf C. Schneider, Elena A. Pozhilenkova, Omolara O. Ogunshola, Eoin O’Keefe, Judit P. Vigh, David Francisco, Gijs Kooij, Takashi Fujimoto, Britta Engelhardt, Daisuke Watanabe, Z. Giżejewski, Alexandra Bocsik, Csilla Fazakas, Zsófia Hoyk, Marcelle Silva de Abreu, Stephanie Hughes, Vinton W.T. Cheng, Rebecca Johnson, Andrzej P. Herman, János Haskó, András Harazin, E. Fidan, Richard Kovács, Yang Yirong, Cherubino Di Lorenzo, Ana Maria Teixeira, Mette Mathiesen Janiurek, Krisztina Nagy, Umut Deniz Ceylan, Winfried Neuhaus, Uğur Akcan, Jadranka Macas, Kristian Strømgaard, Sagatova Artem, Christina Christoffersen, Ralph M. Garruto, Marta Przybyła, Maria Luisa García, Fabien Gosselet, Ruth Lyck, Michal Novak
المصدر: Fluids and Barriers of the CNS
Fluids and Barriers of the CNS, Vol 14, Iss S2, Pp 1-23 (2017)مصطلحات موضوعية: 0301 basic medicine, business.industry, General Medicine, Meeting Abstracts, lcsh:RC346-429, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Developmental Neuroscience, Neurology, Medicine, Signal transduction, business, Neuroscience, lcsh:Neurology. Diseases of the nervous system, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ea04b25802f5b7e0c1e504100860daTest
https://doi.org/10.1186/s12987-017-0071-4Test -
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المؤلفون: Hannes Steinkellner, Franco Laccone, Eva Stifter, Oliver Brandau, Julia Etzler, Jürgen Neesen, Laura Gogoll
المساهمون: University of Zurich, Laccone, Franco
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: 2716 Genetics (clinical), Glycosylation, Genotype, 10039 Institute of Medical Genetics, In silico, Molecular Sequence Data, Mutant, Mutation, Missense, Gene Expression, 610 Medicine & health, Biology, Endoplasmic Reticulum, medicine.disease_cause, Article, Young Adult, ADAMTS Proteins, 1311 Genetics, Mutant protein, Genetics, medicine, Humans, Missense mutation, Computer Simulation, Amino Acid Sequence, Gene, Genetics (clinical), Mutation, Base Sequence, Homozygote, Brachydactyly, Sequence Analysis, DNA, medicine.disease, Molecular biology, eye diseases, Weill–Marchesani syndrome, Pedigree, ADAM Proteins, Protein Transport, Weill-Marchesani Syndrome, HEK293 Cells, Phenotype, 570 Life sciences, biology, Female
وصف الملف: ejhg2014264.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e6121c2d47e87e6fd6e50d0cdffda4bTest
https://doi.org/10.5167/uzh-192673Test -
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المؤلفون: Markus Reindl, Wolfgang Nachbauer, Andreas Eigentler, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Werner Poewe, Sylvia Boesch, Julia Wanschitz, Hannes Steinkellner, Kurt Hufler
المصدر: Movement Disorders. 26:1935-1938
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Time Factors, Ataxia, Biopsy, Statistics as Topic, Peripheral blood mononuclear cell, Disability Evaluation, Iron-Binding Proteins, Internal medicine, medicine, Humans, Muscle, Skeletal, Erythropoietin, Mitochondrial protein, biology, business.industry, Skeletal muscle, Middle Aged, Peripheral blood, Endocrinology, medicine.anatomical_structure, Neurology, Friedreich Ataxia, Cancer research, Frataxin, biology.protein, Biomarker (medicine), Female, Neurology (clinical), medicine.symptom, business, Biomarkers, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a0c13ed1f3e51c43ff352480b5d200Test
https://doi.org/10.1002/mds.23789Test -
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المؤلفون: Sascha Hering, Brigitte Sturm, Guenter Weiss, Alexander Strasak, Markus Seifert, Hannes Steinkellner, Barbara Scheiber-Mojdehkar, Wolfgang Nachbauer, Sylvia Boesch, Werner Poewe, Markus Reindl
المصدر: The Cerebellum. 10:763-769
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ataxia, Pilot Projects, Neuroprotection, Drug Administration Schedule, Downregulation and upregulation, Iron-Binding Proteins, Internal medicine, medicine, Humans, Erythropoietin, Dose-Response Relationship, Drug, biology, Middle Aged, Recombinant Proteins, Mitochondria, Ferritin, Endocrinology, Neurology, Biochemistry, Friedreich Ataxia, Frataxin, biology.protein, Female, Neurology (clinical), NAD+ kinase, medicine.symptom, Function (biology), medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ffaa5fb4eaf282daedc7b8e2f508dcTest
https://doi.org/10.1007/s12311-011-0287-9Test -
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المؤلفون: Sylvia Boesch, Barbara Scheiber-Mojdehkar, Werner Poewe, Wolfgang Nachbauer, Rainer Schneider, Sascha Hering, Brigitte Sturm, Hannes Steinkellner
المصدر: The Open Drug Discovery Journal. 2:18-24
مصطلحات موضوعية: Ataxia, Growth factor, medicine.medical_treatment, Oxidative phosphorylation, Mitochondrion, Biology, Pharmacology, Neuroprotection, Haematopoiesis, Biochemistry, Erythropoietin, Drug Discovery, Frataxin, biology.protein, medicine, medicine.symptom, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9cb5c36a557f8b01eb12992d7e4d547Test
https://doi.org/10.2174/1877381801002010018Test