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1دورية أكاديمية
المؤلفون: Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)
مصطلحات موضوعية: Autosomal recessive cerebellar ataxia, Ataxia, Hereditary cerebellar ataxia, Spinocerebellar ataxia, Iranian population, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
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2دورية أكاديميةSNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
المؤلفون: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية أكاديمية
المؤلفون: Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy, Stephan Zuchner, Mario Saporta
المصدر: Stem Cell Research, Vol 78, Iss , Pp 103449- (2024)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik
المصدر: EBioMedicine, Vol 102, Iss , Pp 105076- (2024)
مصطلحات موضوعية: SCA27B, GAA-FGF14 ataxia, Downbeat nystagmus, 4-Aminopyridine, Treatment, Trial, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Riwei Ouyang, Linlin Wan, David Pellerin, Zhe Long, Jian Hu, Qian Jiang, Chunrong Wang, Linliu Peng, Huirong Peng, Lang He, Rong Qiu, Junling Wang, Jifeng Guo, Lu Shen, Bernard Brais, Matt C. Danzi, Stephan Zuchner, Beisha Tang, Zhao Chen, Hong Jiang
المصدر: EBioMedicine, Vol 102, Iss , Pp 105077- (2024)
مصطلحات موضوعية: GAA-FGF14 ataxia, GAA-impure expansion, Co-occurrence, Long-read sequencing, Biallelic (GAA)n allele, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais
المصدر: Clinical and Translational Medicine, Vol 14, Iss 1, Pp n/a-n/a (2024)
مصطلحات موضوعية: 4‐aminopyridine, cerebellar ataxia, FGF14, GAA‐FGF14 ataxia, genetics, repeat expansion disorder, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2001-1326
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7دورية أكاديمية
المؤلفون: Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101018- (2024)
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101352- (2024)
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renaud
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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10دورية أكاديمية
المؤلفون: Shashwat Deepali Nagar, Priscilla Pemu, Jun Qian, Eric Boerwinkle, Mine Cicek, Cheryl R. Clark, Elizabeth Cohn, Kelly Gebo, Roxana Loperena, Kelsey Mayo, Stephen Mockrin, Lucila Ohno-Machado, Andrea H. Ramirez, Sheri Schully, Ashley Able, Ashley Green, Stephan Zuchner, SEEC Consortium, I. King Jordan, Robert Meller
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322