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Adriana P. Rebelo, Ph.D. - Publications

Affiliations: 
2009 University of Miami, Coral Gables, FL 
Area:
Cell Biology, Molecular Biology
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29 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn M, Nyvltova E, Denzi M, Garrett M, Smith S, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, et al. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Brain : a Journal of Neurology. PMID 37170631 DOI: 10.1093/brain/awad158  0.592
2021 Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, Warrenburg BV, Guissart C, Koenig M, et al. Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain : a Journal of Neurology. PMID 33889951 DOI: 10.1093/brain/awab071  0.553
2020 Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. PMID 32367058 DOI: 10.1038/S41588-020-0615-4  0.358
2019 Stregapede F, Travaglini L, Rebelo AP, Cintra VP, Bellacchio E, Bosco L, Alfieri P, Pro S, Zuchner S, Bertini E, Nicita F. Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Clinical Genetics. PMID 31705535 DOI: 10.1111/Cge.13668  0.372
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. PMID 30929741 DOI: 10.1016/J.Ajhg.2019.03.001  0.387
2019 Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yan YW, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, ... ... Rebelo A, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. 51: 649-658. PMID 30926972 DOI: 10.1038/S41588-019-0372-4  0.33
2019 Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. POLG mutations presenting as CMT. Journal of the Peripheral Nervous System : Jpns. PMID 30843307 DOI: 10.1111/Jns.12313  0.347
2018 Meister-Broekema M, Freilich R, Jagadeesan C, Rauch JN, Bengoechea R, Motley WW, Kuiper EFE, Minoia M, Furtado GV, van Waarde MAWH, Bird SJ, Rebelo A, Zuchner S, Pytel P, Scherer SS, et al. Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. Nature Communications. 9: 5342. PMID 30559338 DOI: 10.1038/S41467-018-07718-5  0.333
2018 Montes-Chinea NI, Guan Z, Coutts M, Vidal C, Courel S, Rebelo AP, Abreu L, Zuchner S, Littleton JT, Saporta MA. Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurology. Genetics. 4: e282. PMID 30533528 DOI: 10.1212/Nxg.0000000000000282  0.325
2018 Maciel R, Bis DM, Rebelo AP, Saghira C, Züchner S, Saporta MA. The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport. Experimental Neurology. 307: 155-163. PMID 29935168 DOI: 10.1016/J.Expneurol.2018.06.008  0.32
2018 Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. American Journal of Human Genetics. 102: 505-514. PMID 29499166 DOI: 10.1016/J.Ajhg.2018.01.023  0.338
2018 Rebelo A, Dimah S, Pereira C, Farooq A, Huff T, Abreu L, Moraes C, Mnatsakanova D, Mathews K, Yang H, Schon E, Zuchner S, Shy M. Erratum: SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency (Brain (2018) 141 (662-672) DOI: 10.1093/brain/awx369) Brain. 141. PMID 29471376 DOI: 10.1093/Brain/Awy032  0.524
2018 Rebelo AP, Saade D, Pereira CP, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain : a Journal of Neurology. PMID 29351582 DOI: 10.1093/Brain/Awx369  0.592
2017 Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S. Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 28754666 DOI: 10.1136/Jnnp-2017-315929  0.38
2017 Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta Neuropathologica Communications. 5: 55. PMID 28709447 DOI: 10.1186/S40478-017-0457-1  0.376
2017 Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L. Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology. PMID 28468842 DOI: 10.1212/Wnl.0000000000003992  0.336
2017 Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SI, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, et al. Pla2g6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clinical Genetics. PMID 28295203 DOI: 10.1111/Cge.13008  0.352
2017 Rossor AM, Rebelo A, Horga A, Tomaselli PJ, Gonzalez M, Zuchner S, Reilly MM. A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30289-4  0.336
2016 Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, et al. Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. American Journal of Human Genetics. PMID 27040688 DOI: 10.1016/J.Ajhg.2016.02.022  0.368
2015 Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, et al. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature Genetics. 47: 926-32. PMID 26168012 DOI: 10.1038/Ng.3354  0.633
2014 Strickland AV, Rebelo AP, Zhang F, Price J, Bolon B, Silva JP, Wen R, Züchner S. Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. Journal of the Peripheral Nervous System : Jpns. 19: 152-64. PMID 24862862 DOI: 10.1111/Jns5.12066  0.517
2014 Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R. Motor protein mutations cause a new form of hereditary spastic paraplegia. Neurology. 82: 2007-16. PMID 24808017 DOI: 10.1212/Wnl.0000000000000479  0.371
2014 Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain : a Journal of Neurology. 137: 69-77. PMID 24355708 DOI: 10.1093/Brain/Awt326  0.355
2012 Dillon LM, Rebelo AP, Moraes CT. The role of PGC-1 coactivators in aging skeletal muscle and heart. Iubmb Life. 64: 231-41. PMID 22279035 DOI: 10.1002/Iub.608  0.677
2012 Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. The Journal of Clinical Investigation. 122: 538-44. PMID 22232211 DOI: 10.1172/Jci60560  0.38
2011 Rebelo AP, Dillon LM, Moraes CT. Mitochondrial DNA transcription regulation and nucleoid organization. Journal of Inherited Metabolic Disease. 34: 941-51. PMID 21541724 DOI: 10.1007/S10545-011-9330-8  0.68
2010 Rebelo A, Moraes C. 69 In vivo methylation of mtDNA in living cells shows the strength and dynamics of protein factors–mtDNA interactions Mitochondrion. 10: 219. DOI: 10.1016/J.Mito.2009.12.064  0.487
2009 Rebelo AP, Williams SL, Moraes CT. In vivo methylation of mtDNA reveals the dynamics of protein-mtDNA interactions. Nucleic Acids Research. 37: 6701-15. PMID 19740762 DOI: 10.1093/Nar/Gkp727  0.582
2008 Diaz F, Garcia S, Hernandez D, Regev A, Rebelo A, Oca-Cossio J, Moraes CT. Pathophysiology and fate of hepatocytes in a mouse model of mitochondrial hepatopathies. Gut. 57: 232-42. PMID 17951359 DOI: 10.1136/Gut.2006.119180  0.542
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