المؤلفون: Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Alzira Alves de Siqueira Carvalho, Hasan Orhan Akman, Paulo Victor Sgobbi de Souza

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: inborn errors of metabolism, neurogenetics, inherited metabolic diseases, inherited neurometabolic disorders, next-generation sequencing, metabolomics, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1255513/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/a5f49d73d2fc412896b18f25e9af8e39

المؤلفون: Trang T. T. Nguyen, Enyuan Shang, Chang Shu, Sungsoo Kim, Angeliki Mela, Nelson Humala, Aayushi Mahajan, Hee Won Yang, Hasan Orhan Akman, Catarina M. Quinzii, Guoan Zhang, Mike-Andrew Westhoff, Georg Karpel-Massler, Jeffrey N. Bruce, Peter Canoll, Markus D. Siegelin

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f4ce109d7c6840f1a279ca28a9499ce7

المؤلفون: Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil

المصدر: EMBO Molecular Medicine, Vol 13, Iss 10, Pp n/a-n/a (2021)

مصطلحات موضوعية: adult polyglucosan body disease, autophagy, glycogen, lysosomes, polyglucosan, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/1a148de87c5d456f843b17754edc0627

المؤلفون: Guomei Tang, Puri Gutierrez Rios, Sheng-Han Kuo, Hasan Orhan Akman, Gorazd Rosoklija, Kurenai Tanji, Andrew Dwork, Eric A. Schon, Salvatore DiMauro, James Goldman, David Sulzer

المصدر: Neurobiology of Disease, Vol 54, Iss , Pp 349-361 (2013)

مصطلحات موضوعية: Autism, Mitochondria, Temporal cortex, Development, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996113000302; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/e9a049697aaf46e6b6c974cd1841675b

المؤلفون: Markus D. Siegelin, Georg Karpel-Massler, Mike-Andrew Westhoff, Joshua E. Allen, Varun V. Prabhu, Hasan Orhan Akman, Chang Shu, Consuelo Torrini, Salveena Schiffgens, Enyuan Shang, Trang T.T. Nguyen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab5484a8c37e8dc01f67fc65c6d43ca
https://doi.org/10.1158/1078-0432.22482102.v1

المؤلفون: Markus D. Siegelin, Georg Karpel-Massler, Mike-Andrew Westhoff, Joshua E. Allen, Varun V. Prabhu, Hasan Orhan Akman, Chang Shu, Consuelo Torrini, Salveena Schiffgens, Enyuan Shang, Trang T.T. Nguyen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3b6c6a44a2c49842334d5fe11b40b9
https://doi.org/10.1158/1078-0432.c.6530823

المؤلفون: Paul Theo Zebhauser, Isabell Cordts, Holger Hengel, Bernhard Haslinger, Paul Lingor, Hasan Orhan Akman, Tobias B. Haack, Marcus Deschauer

المصدر: Journal of Neurology. 269:2854-2861

مصطلحات موضوعية: Neurology, Mutation, Missense, Humans, Cognitive Dysfunction, Neurology (clinical), Nervous System Diseases, Glycogen Storage Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81c0213d003b5250578e88e5318f63ad
https://doi.org/10.1007/s00415-022-10960-z

المؤلفون: Trang T.T. Nguyen, Enyuan Shang, Salveena Schiffgens, Consuelo Torrini, Chang Shu, Hasan Orhan Akman, Varun V. Prabhu, Joshua E. Allen, Mike-Andrew Westhoff, Georg Karpel-Massler, Markus D. Siegelin

المصدر: Clin Cancer Res

مصطلحات موضوعية: Cancer Research, Apoptosis, Histone Deacetylase 1, Endopeptidase Clp, Xenograft Model Antitumor Assays, Article, Histone Deacetylase Inhibitors, Oncology, Cell Line, Tumor, Humans, Glioblastoma, Synthetic Lethal Mutations, Cell Proliferation, Peptide Hydrolases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a410f72e2d5c6c79f4e9e4f8d153ba52
https://europepmc.org/articles/PMC9118753/

المؤلفون: Nicholas Ah Mew, Wado Akamatsu, Hasan Orhan Akman, Afnan AlHakeem, Koji Aoyama, Rafael Artuch, Michael Beck, C. Frank Bennett, Gerard T. Berry, D. Montgomery Bissell, Brenda Canine, C. Thomas Caskey, Widler Casy, Patrick F. Chinnery, David T. Chuang, Emily K. Cook, Rody P. Cox, Philip L. De Jager, Didem Demirbas, Robert J. Desnick, Salvatore DiMauro, Florian S. Eichler, Bernice Elger, Valentina Emmanuele, Patricia Evans, Brent L. Fogel, Àngels García-Cazorla, Cinzia Gellera, Sailaja Golla, Kimberly Goodspeed, Sidney M. Gospe, Steven J. Gray, Andrea L. Gropman, Yian Gu, Renzo Guerrini, Teresa M. Gunn, Una Hadziahmetovic, Darrah Haffner, R.J. Hagerman, Tamar Harel, Elizabeth Head, Rita Horvath, Yasushi Hosoi, Ying-Chen Claire Hou, Jane Hsiao, Hiroyuki Ishiura, Clifford R. Jack, Vikram Jakkamsetti, William G. Johnson†, Fabrice Jotterand, John P. Kane, Olga Khorkova, Chisato Kinoshita, Sanne E. Klompe, Lisa M. Koehl, Michael C. Kruer, Walter A. Kukull, Roger M. Lane, Joseph H. Lee, M.J. Leigh, Qinglan Ling, James R. Lupski, Paola Luzi, Qian Ma, Gustavo H.B. Maegawa, Mary J. Malloy, Seth S. Margolis, Isaac Marin-Valencia, James A. Mastrianni, Dena Matalon, Reuben Matalon, Kimberlee Michals Matalon Rd, Jennifer M. Mathews, Richard Mayeux, Jennifer McCurdy, Meira R. Meltzer, John H. Menkes†, Justin Miron, Jun Mitsui, Hiroaki Miyajima, Lisa M. Monteggia, Mary Ann Morris, Hugo W. Moser†, Melissa E. Murray, Toshio Nakaki, Nathalie Nilsson, Ichizo Nishino, Sandra M.H. Nordlie, Robert L. Nussbaum, William L. Nyhan, Hideyuki Okano, Sergio Padilla-Lopez, Elena Parrini, Juan M. Pascual, Gregory M. Pastores, Shailendra B. Patel, Marc C. Patterson, Izabella A. Pena, Cynthia Picard, Judes Poirier, Jennifer E. Posey, Gerald V. Raymond, William Renthal, David S. Rosenblatt, Francis Rossignol, Gerald Salen, Konrad Sandhoff, Raphael Schiffmann, Detlev Schindler, Frederick A. Schmitt, Susanne A. Schneider, Eric A. Schon, Edward H. Schuchman, Margretta Reed Seashore, Frances C. Shaffo, Michael Shevell, Sarah E. Sinnett, Myriam Srour, Samuel H. Sternberg, Kazuma Sugie, Kristen L. Szabla, Franco Taroni, Marina Tedeschi Dauar, Shoji Tsuji, Wendy R. Uhlmann, Clara van Karnebeek, Kathryn L. Van Pelt, Prashanthi Vemuri, Charles P. Venditti, Claes Wahlestedt, Bruce Wang, David Watkins, David A. Wenger, Charles A. Williams, Golder N. Wilson, Barry Wolf, R. Max Wynn, Hung-Chun Yu

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57d33606a0dd70f9459d3237b2c69dcb
https://doi.org/10.1016/b978-0-12-813955-4.00079-9

المؤلفون: Elie, Naddaf, Charles D, Kassardjian, Yasemin Gulcan, Kurt, Hasan Orhan, Akman, Anthony J, Windebank

المصدر: Musclenerve. 53(6)

مصطلحات موضوعية: DNA Mutational Analysis, Neural Conduction, Glycogen Debranching Enzyme System, Middle Aged, Glycogen Storage Disease, Magnetic Resonance Imaging, Functional Laterality, Sural Nerve, Disease Progression, Reaction Time, Humans, Female, RNA, Messenger, Nervous System Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::94cc93b114b8f0ec18ec6d1a87c0a59b
https://pubmed.ncbi.nlm.nih.gov/26789422