Joy Irobi

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh et al. · The American Journal of Human Genetics · 2004 · 810 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Genetic Disorder +8

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi et al. · Nature Genetics · 2004 · 581 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Medicine +7

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

Constantin d’Ydewalle, Jyothsna Krishnan, Driss M Chiheb et al. · Nature Medicine · 2011 · 458 citations · Full text

Signal Transduction, Hdac6 Inhibitors, Signaling Pathway +11

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Joy Irobi, Katrien Van Impe, Pavel Seeman et al. · Nature Genetics · 2004 · 416 citations

Peripheral Nerves, Protein Folding, Medicine +6

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi et al. · Nature Genetics · 2004 · 374 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8