Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

by Aaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, Gajja S. Salomons, Susan Blaser, Saadet Mercimek‐Andrews
Published 2020-01-01

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

by Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson
Published 2020-05-01

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.

by Kara R Vogel, Garrett R Ainslie, Erwin E Jansen, Gajja S Salomons, Jean-Baptiste Roullet, K Michael Gibson
Published 2017-01-01

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

by Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews
Published 2017-01-01

Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects

by Dana C. Walters, Erwin E. W. Jansen, Garrett R. Ainslie, Gajja S. Salomons, Madalyn N. Brown, Michelle A. Schmidt, Jean‐Baptiste Roullet, K. M. Gibson
Published 2019-02-01

A Hypomorphic Dars1D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL

by Dominik Fröhlich, Marisa I. Mendes, Andrew J. Kueh, Andrew J. Kueh, Andre Bongers, Marco J. Herold, Marco J. Herold, Gajja S. Salomons, Gary D. Housley, Matthias Klugmann
Published 2021-01-01

IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.

by Ya Gao, Maurice de Wit, Eduard A Struys, Herma C Z van der Linde, Gajja S Salomons, Martine L M Lamfers, Rob Willemsen, Peter A E Sillevis Smitt, Pim J French
Published 2018-01-01

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

by Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson
Published 2020-08-01

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

by Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson
Published 2021-02-01

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

by Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Published 2019-02-01

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

by Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Published 2020-01-01