Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency

by Judy Fan, Brent L. Fogel
Published 2018-10-01

Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report

by Darice Y. Wong, Brent L. Fogel
Published 2021-08-01

Spinocerebellar Ataxia type 29 in a family of Māori descent

by Kathie J. Ngo, Gemma Poke, Katherine Neas, Brent L. Fogel
Published 2019-10-01

Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature

by Martin Paucar, Alexander M.R. Taylor, Marios Hadjivassiliou, Brent L. Fogel, Per Svenningsson
Published 2019-10-01

Novel NUDT2 variant causes intellectual disability and polyneuropathy

by Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, Undiagnosed Diseases Network, J. Brandon Birath, Yurivia Cervantes‐Manzo, Julian A. Martinez‐Agosto, Christina Palmer, Stanley F. Nelson, Brent L. Fogel, Shri K. Mishra
Published 2020-11-01

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

by Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott
Published 2017-06-01