المؤلفون: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: autosomal recessive, copy number variant, ELOVL4, neuro‐ichthyosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999dfTest

المؤلفون: Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1345-1358 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/e661a9bb4241478abb777acab28ee5c0Test

المؤلفون: Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)

مصطلحات موضوعية: Gene classification, Gene curation, Gene-disease association, Gene-disease relationship, Gene-validity, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423008427Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2Test

المؤلفون: Erin Janssen, Zachary Peters, Mohammed F. Alosaimi, Emma Smith, Elena Milin, Kelsey Stafstrom, Jacqueline G. Wallace, Craig D. Platt, Janet Chou, Yasmeen S. El Ansari, Tariq Al Farsi, Najim Ameziane, Ruslan Al-Ali, Maria Calvo, Maria Eugenia Rocha, Peter Bauer, Nouriya Abbas Al-Sannaa, Nashat Faud Al Sukaiti, Abdullah A. Alangari, Aida M. Bertoli-Avella, Raif S. Geha

المصدر: The Journal of Clinical Investigation, Vol 132, Iss 20 (2022)

مصطلحات موضوعية: Immunology, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1558-8238Test

الوصول الحر: https://doaj.org/article/39932b8ac161497cb818bcd607e93a5cTest

المؤلفون: Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schröder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Galloway-Mowat syndrome, steroid-resistant nephrotic syndrome, GAMOS, proteomic, KEOPS complex, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.806190/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/8db6644c11c4473ea480bba4e547fa50Test

المؤلفون: Lior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Annick Raas-Rothschild, Elon Pras, Michal Berkenstadt

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: whole-exome sequencing (WES), prenatal diagnosis, ultrasound abnormalities, clinical genetics, congenital anomalies, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.00425/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/a7bd0eff5ffc4ff1adbd0a70c057662fTest

المؤلفون: Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin, Maha S. Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stéphanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A. Normand, Sabine Rudnik‐Schöneborn, Ulrich A. Schatz, Marc P. Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Péter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A. Abdul–Majeed

مصطلحات موضوعية: Peroxisome Proliferator-Activated Receptors, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Ubiquitin-Proteasome Proteolytic Pathway, Endoplasmic Reticulum Stress and Unfolded Protein Response, Cell Biology, Protein Folding, Dystonia, Microcephaly, Movement disorders, Ataxia, Biology, Hypotonia, Neuroscience, Genetics, FOS Biological sciences, Medicine, Internal medicine, Disease

العلاقة: https://dx.doi.org/10.60692/61d6g-2w638Test

الإتاحة: https://doi.org/10.60692/nm4nh-8aw4210.60692/61d6g-2w638Test

المؤلفون: Ghada M.H. Abdel‐Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit Budde, Mohammad R. Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel‐Hamid, Ibrahim Hegazy, Ahmed Osman, Dominik T. Schneider, Aida M. Bertoli‐Avella, Péter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz

مصطلحات موضوعية: Chromatin Remodeling in Cancer and Development, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genomic Landscape of Cancer and Mutational Signatures, Cancer Research, Regulation and Function of Microtubules in Cell Division, Cell Biology, Mitotic Checkpoint, Biology, Aneuploidy, Cancer research, Microcephaly, Nonsense mutation, Genetics, FOS Biological sciences, Mutation, Missense mutation, Cell biology, Chromosome, Gene

العلاقة: https://dx.doi.org/10.60692/g8j2k-z1c46Test

الإتاحة: https://doi.org/10.60692/jbvj3-axc1310.60692/g8j2k-z1c46Test

المؤلفون: Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Anett Kaune, Alice Urzì, Tania C. L. S. Spohr, Nikenza Viceconte, Sebastian Oppermann, Mohammed Alasel, Saeedeh Ebadat, Sadaf Iftikhar, Eresha Jasinge, Solaf M. Elsayed, Hoda Tomoum, Iman Marzouk, Anil Jalan, Agnė Čerkauskaitė, Rimantė Čerkauskienė, Tinatin Tkemaladze, Anjum Muhammad Nadeem, Iman Gamal El Din Mahmoud, Fawzia Amer Mossad, M. Kamel, Laila Selim, Huma Arshad Cheema, Omid Paknia, Claudia Cozma, Carlos Juaristi-Manrique, Pilar Guatibonza-Moreno, Tobias Böttcher, Florian Vogel, Jorge Pinto‐Basto, Aida M. Bertoli‐Avella, Péter Bauer

مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Standards and Guidelines for Genetic Variant Interpretation, Genetics, Biochemistry, Genetics and Molecular Biology, Life Sciences, Nucleotide Metabolism and Enzyme Regulation, Molecular Biology, Pathogenicity Prediction, Genetic testing, Disease, Cohort, Exome sequencing, Medical genetics, Genetic diagnosis, Bioinformatics, FOS Computer and information sciences, Biology, Gene, Internal medicine, Phenotype

العلاقة: https://dx.doi.org/10.60692/jx1nj-hpx64Test

الإتاحة: https://doi.org/10.60692/gs7bk-6nz1410.60692/jx1nj-hpx64Test

المؤلفون: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

المساهمون: Clinical Genetics, Neurology, Internal Medicine

المصدر: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9Test
Acta Neuropathologica. Springer-Verlag

مصطلحات موضوعية: Cellular and Molecular Neuroscience, AMFR, Zebrafish disease modeling, Neurology, Whole genome sequencing, Precision medicine, Genetics, Hereditary spastic paraplegia, Cholesterol metabolism, Statin, Neurology (clinical), Pathology and Forensic Medicine

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238Test
https://doi.org/10.1007/s00401-023-02579-9Test