Adriana P. Rebelo, Ph.D.
Affiliations: | 2009 | University of Miami, Coral Gables, FL |
Area:
Cell Biology, Molecular BiologyGoogle:
"Adriana Rebelo"Mean distance: 23.34
Parents
Sign in to add mentor| Carlos T. Moraes | grad student | 2009 | University of Miami | |
| (Probing mitochondrial DNA structure with mitochondria-targeted DNA methyltransferases.) | ||||
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Publications
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| Rebelo AP, Tomaselli PJ, Medina J, et al. (2023) Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Brain : a Journal of Neurology |
| Rebelo AP, Eidhof I, Cintra VP, et al. (2021) Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain : a Journal of Neurology |
| Cortese A, Zhu Y, Rebelo AP, et al. (2020) Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics |
| Stregapede F, Travaglini L, Rebelo AP, et al. (2019) Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Clinical Genetics |
| Farazi Fard MA, Rebelo AP, Buglo E, et al. (2019) Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics |
| Cortese A, Simone R, Sullivan R, et al. (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. 51: 649-658 |
| Phillips J, Courel S, Rebelo AP, et al. (2019) POLG mutations presenting as CMT. Journal of the Peripheral Nervous System : Jpns |
| Meister-Broekema M, Freilich R, Jagadeesan C, et al. (2018) Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. Nature Communications. 9: 5342 |
| Montes-Chinea NI, Guan Z, Coutts M, et al. (2018) Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurology. Genetics. 4: e282 |
| Maciel R, Bis DM, Rebelo AP, et al. (2018) The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport. Experimental Neurology. 307: 155-163 |