Justin Price

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Gladys Montenegro, Adriana Rebelo, James W. Connell et al. · Journal of Clinical Investigation · 2012 · 168 citations

Neurodegenerative Diseases, Mendelian Disorder, Er Localization +14

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Aslı Sırmacı, Seyra Erbek, Justin Price et al. · The American Journal of Human Genetics · 2010 · 72 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

Characterization of the mitofusin 2 <scp>R94W</scp> mutation in a knock‐in mouse model

Alleene V. Strickland, Adriana Rebelo, Fan Zhang et al. · Journal of the Peripheral Nervous System · 2014 · 54 citations

Mitophagy, Mitochondrial Dysfunction, Genetics +17

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

D. James McCorquodale, Uzoezi Ozomaro, Jiaqiang Huang et al. · Clinical Genetics · 2010 · 50 citations

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

Donald McCorquodale, Gladys Montenegro, Ainsley Peguero et al. · Journal of Neurology · 2011 · 39 citations

Genetics, Pathogenesis, Pathology +3