検索結果 - Quasar Padiath
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P317: Clinical practice guidelines for the diagnosis, management, and surveillance of people with LMNB1 related autosomal dominant leukodystrophy: A consensus-based approach 著者: Radhika Dhamija, W. Oliver Tobin, Pierto Cortelli, Quasar Padiath, Karthik Muthusamy, Ujjal Didar Singh Sekhon, Bishen Singh, Dan Harris, Heather Billings, Holly Appleberry, Keti Mamillo, Elisa Giorgio, Brent Fogel, Ralitza Gavrilova, Raili Rainiko, Margot Cousin
出版年 Genetics in Medicine Open (2025-01-01)全文の入手
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TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model 著者: Sunetra Sase, Akshata A Almad, C Alexander Boecker, Pedro Guedes-Dias, Jian J Li, Asako Takanohashi, Akshilkumar Patel, Tara McCaffrey, Heta Patel, Divya Sirdeshpande, Julian Curiel, Judy Shih-Hwa Liu, Quasar Padiath, Erika LF Holzbaur, Steven S Scherer, Adeline Vanderver
出版年 eLife (2020-05-01)全文の入手
論文
