RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

OBJECTIVE: Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1‐related disease, and to identify possible genotype‐ph...

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書目詳細資料
發表在:Ann Clin Transl Neurol
Main Authors: Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2019
主題:
Research Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6952319/
https://ncbi.nlm.nih.gov/pubmed/31814314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50960
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