Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes have only been identified in a few families worldwide. Here we report the identification of an autosomal-dominant gene for hereditary spastic p...

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Main Authors:	Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt, Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali
Format:	Text
Language:	English
Published:	Elsevier 2019
Subjects:	Report
Online Access:	https://pmc.ncbi.nlm.nih.gov/articles/PMC6451742/ https://pubmed.ncbi.nlm.nih.gov/30929741 http://dx.doi.org/10.1016/j.ajhg.2019.03.001
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https://pmc.ncbi.nlm.nih.gov/articles/PMC6451742/
https://pubmed.ncbi.nlm.nih.gov/30929741
http://dx.doi.org/10.1016/j.ajhg.2019.03.001

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

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