Concepedia
Statistics
Publications
4
Citations
65
H-Index
Active since
2016
Affiliations
Concord Repatriation General Hospital(Current)
The University of Sydney
Anzac Research Institute
Kyoto University
Kyoto University Institute for Chemical Research
Anthony N. Cutrupi is an author at Concord Repatriation General Hospital specializing in genetics, life sciences, and medical genetics.
Publications per year
2016–2022
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation
Gonzalo Pérez‐Siles, Anthony N. Cutrupi, Melina Ellis et al. · Scientific Reports · 2020 · 27 citations · Full text
Life Sciences, Genetics, Neuroscience +17
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Pérez‐Siles et al. · Brain · 2022 · 14 citations · Full text
Life Sciences, Genetics, Neurology +16
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2
Alexander P. Drew, Anthony N. Cutrupi, Megan H. Brewer et al. · Human Genetics · 2016 · 13 citations
Life Sciences, Genetics, Molecular Genetics +7
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
Gonzalo Pérez‐Siles, Anthony N. Cutrupi, Melina Ellis et al. · Disease Models & Mechanisms · 2020 · 11 citations · Full text
Life Sciences, Genetics, Neuroscience +14
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