| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 410 | 2019 |
| PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 223 | 2014 |
| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 207 | 2015 |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ... The Journal of clinical investigation 122 (2), 538-544, 2012 | 185 | 2012 |
| The role of PGC‐1 coactivators in aging skeletal muscle and heart LM Dillon, AP Rebelo, CT Moraes IUBMB life 64 (3), 231-241, 2012 | 136 | 2012 |
| In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions AP Rebelo, SL Williams, CT Moraes Nucleic acids research 37 (20), 6701-6715, 2009 | 128 | 2009 |
| Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes A Cortese, Y Zhu, AP Rebelo, S Negri, S Courel, L Abreu, CJ Bacon, ... Nature genetics 52 (5), 473-481, 2020 | 112 | 2020 |
| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia D Pellerin, MC Danzi, C Wilke, M Renaud, S Fazal, MJ Dicaire, CK Scriba, ... New England Journal of Medicine 388 (2), 128-141, 2023 | 91 | 2023 |
| Mitochondrial DNA transcription regulation and nucleoid organization AP Rebelo, LM Dillon, CT Moraes Journal of inherited metabolic disease 34, 941-951, 2011 | 83 | 2011 |
| Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2 P Lassuthova, AP Rebelo, G Ravenscroft, PJ Lamont, MR Davis, ... The American Journal of Human Genetics 102 (3), 505-514, 2018 | 77 | 2018 |
| Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks M Meister-Broekema, R Freilich, C Jagadeesan, JN Rauch, ... Nature communications 9 (1), 5342, 2018 | 69 | 2018 |
| Motor protein mutations cause a new form of hereditary spastic paraplegia A Caballero Oteyza, E Battaloğlu, L Ocek, T Lindig, J Reichbauer, ... Neurology 82 (22), 2007-2016, 2014 | 68 | 2014 |
| Cryptic amyloidogenic elements in the 3′ UTRs of neurofilament genes trigger axonal neuropathy AP Rebelo, AJ Abrams, E Cottenie, A Horga, M Gonzalez, DM Bis, ... The American Journal of Human Genetics 98 (4), 597-614, 2016 | 61 | 2016 |
| Characterization of the mitofusin 2 R94W mutation in a knock‐in mouse model AV Strickland, AP Rebelo, F Zhang, J Price, B Bolon, JP Silva, R Wen, ... Journal of the Peripheral Nervous System 19 (2), 152-164, 2014 | 59 | 2014 |
| SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency AP Rebelo, D Saade, CV Pereira, A Farooq, TC Huff, L Abreu, CT Moraes, ... Brain 141 (3), 662-672, 2018 | 56 | 2018 |
| Pathophysiology and fate of hepatocytes in a mouse model of mitochondrial hepatopathies F Diaz, S Garcia, D Hernandez, A Regev, A Rebelo, J Oca-Cossio, ... Gut 57 (2), 232-242, 2008 | 55 | 2008 |
| Truncating mutations in UBAP1 cause hereditary spastic paraplegia MAF Fard, AP Rebelo, E Buglo, H Nemati, H Dastsooz, I Gehweiler, ... The American Journal of Human Genetics 104 (4), 767-773, 2019 | 52 | 2019 |
| PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia B Ozes, N Karagoz, R Schüle, A Rebelo, MJ Sobrido, F Harmuth, ... Clinical genetics 92 (5), 534-539, 2017 | 45 | 2017 |
| The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport R Maciel, DM Bis, AP Rebelo, C Saghira, S Züchner, MA Saporta Experimental neurology 307, 155-163, 2018 | 43 | 2018 |
| Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI F Manganelli, S Parisi, M Nolano, F Tao, S Paladino, C Pisciotta, S Tozza, ... Neurology 88 (22), 2132-2140, 2017 | 41 | 2017 |
