PMC Links for OMIM (Select 607927) - PMC - NCBI

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Items: 3

Select item 60650841.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

Tobias Hermle, Ronen Schneider, David Schapiro, Daniela A. Braun, Amelie T. van der Ven, Jillian K. Warejko, Ankana Daga, Eugen Widmeier, Makiko Nakayama, Tilman Jobst-Schwan, Amar J. Majmundar, Shazia Ashraf, Jia Rao, Laura S. Finn, Velibor Tasic, Joel D. Hernandez, Arvind Bagga, Sawsan M. Jalalah, Sherif El Desoky, Jameela A. Kari, Kristen M. Laricchia, Monkol Lek, Heidi L. Rehm, Daniel G. MacArthur, Shrikant Mane, Richard P. Lifton, Shirlee Shril, Friedhelm Hildebrandt

J Am Soc Nephrol. 2018 Aug; 29(8): 2123–2138. Published online 2018 Jun 29. doi: 10.1681/ASN.2017121312

PMCID:: PMC6065084

Abstract Article

Select item 54400062.

Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Man Ding, Chao Weng, Shanghua Fan, Qian Cao, Zuneng Lu

Front Mol Neurosci. 2017; 10: 121. Published online 2017 May 1. doi: 10.3389/fnmol.2017.00121

PMCID:: PMC5440006

Abstract Article PDF–5.3M

Select item 52042373.

Ankfy1 is dispensable for neural stem/precursor cell development

Chao Weng, Man Ding, Lian-sheng Chang, Ming-xin Ren, Hong-feng Zhang, Zu-neng Lu, Hui Fu

Neural Regen Res. 2016 Nov; 11(11): 1804–1809. doi: 10.4103/1673-5374.194750

PMCID:: PMC5204237

Abstract Article PDF–906K

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