Mitra Forouhan

Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala et al. · Human Mutation · 2012 · 190 citations · Full text

Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

Lorna Mullan, Ewa Mularczyk, Louise H. W. Kung et al. · Journal of Clinical Investigation · 2017 · 64 citations · Full text

Cbz Treatment, Developmental Biology, Sclerostin +14

Paradoxical roles of ATF6α and ATF6β in modulating disease severity caused by mutations in collagen X

Mitra Forouhan, Kazutoshi Mori, Ray Boot-Handford · Matrix Biology · 2018 · 41 citations · Full text

Pathology, Er Stress, Disease Gene Identification +20

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

Wooi Fang Lim, Mitra Forouhan, Thomas C. Roberts et al. · Science Advances · 2021 · 37 citations · Full text

Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Laura C. Bott, Mitra Forouhan, Maria Lieto et al. · Brain Communications · 2021 · 29 citations · Full text