Barry A. Chioza

Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

Reza Seyed Sharifi, Rosa Morra, C. Denise Appel et al. · The EMBO Journal · 2013 · 298 citations · Full text

Mutations in all five exons of <i>SOD‐1</i> may cause ALS

Christopher E. Shaw, Zinat E. Enayat, Barry A. Chioza et al. · Annals of Neurology · 1998 · 148 citations

Motor Dysfunction, Neurological Disorder, Genetics +21

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza et al. · Brain · 2013 · 139 citations · Full text

Genetics, Glycobiology, Molecular Biology +20

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

Vafa Alakbarzade, Abdul Hameed, Debra Q Y Quek et al. · Nature Genetics · 2015 · 133 citations

Molecular Physiology, Non-lethal Microcephaly Syndrome, Neurological Disorder +9

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation

M. T. Jackson, Ammar Al‐Chalabi, Zinat E. Enayat et al. · Annals of Neurology · 1997 · 131 citations