Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort von Cintra, Vivian Pedigone, Dohrn, Maike F., Tomaselli, Pedro José, Figueiredo, Fernanda Barbosa, Marques, Sandra Elisabete, Camargos, Sarah Teixeira, Barbosa, Luiz Sergio Mageste, P. Rebelo, Adriana, Abreu, Lisa, Danzi, Matt, Marques, Wilson, Züchner, Stephan

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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia von Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

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Deep structured learning for variant prioritization in Mendelian diseases von Danzi, Matt C., Dohrn, Maike F., Fazal, Sarah, Beijer, Danique, Rebelo, Adriana P., Cintra, Vivian, Züchner, Stephan

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The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport von Maciel, Renata, Bis, Dana M., Rebelo, Adriana P., Saghira, Cima, Züchner, Stephan, Saporta, Mario A.

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Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia von Rebelo, Adriana P, Eidhof, Ilse, Cintra, Vivian P, Guillot-Noel, Léna, Pereira, Claudia V, Timmann, Dagmar, Traschütz, Andreas, Schöls, Ludger, Coarelli, Giulia, Durr, Alexandra, Anheim, Mathieu, Tranchant, Christine, Warrenburg, Bart van de, Guissart, Claire, Koenig, Michel, Howell, Jack, Moraes, Carlos T, Schenck, Annette, Stevanin, Giovanni, Züchner, Stephan, Synofzik, Matthis

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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy von Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan

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The role of PGC‐1 coactivators in aging skeletal muscle and heart von Dillon, Lloye M., Rebelo, Adriana P., Moraes, Carlos T.

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Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes von Rebelo, Adriana P, Bender, Benjamin, Haack, Tobias B, Zuchner, Stephan, Basak, A Nazli, Synofzik, Matthis

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Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia von Lobato, Amanda G., Ortiz-Vega, Natalie, Canic, Tijana, Tao, Xianzun, Bucan, Nika, Ruan, Kai, Rebelo, Adriana P., Schule, Rebecca, Zuchner, Stephan, Syed, Sheyum, Zhai, R. Grace

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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease von Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula

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SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights von Rebelo, Adriana P, Abad, Clemer, Dohrn, Maike F, Li, Jian J, Tieu, Ethan K, Medina, Jessica, Yanick, Christopher, Huang, Jingyu, Zotter, Brendan, Young, Juan I, Saporta, Mario, Scherer, Steven S, Walz, Katherina, Zuchner, Stephan

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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 von Montenegro, Gladys, Rebelo, Adriana P, Connell, James, Allison, Rachel, Babalini, Carla, D'Aloia, Michela, Montieri, Pasqua, Schüle, Rebecca, Ishiura, Hiroyuki, Price, Justin, Strickland, Alleene, Gonzalez, Michael A, Baumbach-Reardon, Lisa, Deconinck, Tine, Huang, Jia, Bernardi, Giorgio, Vance, Jeffery M, Rogers, Mark T, Tsuji, Shoji, De Jonghe, Peter, Pericak-Vance, Margaret A, Schöls, Ludger, Orlacchio, Antonio, Reid, Evan, Züchner, Stephan

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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency von Rebelo, Adriana P, Saade, Dimah, Pereira, Claudia V, Farooq, Amjad, Huff, Tyler C, Abreu, Lisa, Moraes, Carlos T, Mnatsakanova, Diana, Mathews, Kathy, Yang, Hua, Schon, Eric A, Zuchner, Stephan, Shy, Michael E

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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs von Rebelo, Adriana P, Tomaselli, Pedro J, Medina, Jessica, Wang, Ying, Dohrn, Maike F, Nyvltova, Eva, Danzi, Matt C, Garrett, Mark, Smith, Sean E, Pestronk, Alan, Li, Chengcheng, Ruiz, Ariel, Jacobs, Elizabeth, Feely, Shawna M E, França, Marcondes C, Gomes, Marcus V, Santos, Diogo F, Kumar, Surinder, Lombard, David B, Saporta, Mario, Hekimi, Siegfried, Barrientos, Antoni, Weihl, Conrad, Shy, Michael E, Marques, Wilson, Zuchner, Stephan

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In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions von Rebelo, Adriana P., Williams, Sion L., Moraes, Carlos T.

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Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation von Stregapede, Fabrizia, Travaglini, Lorena, Rebelo, Adriana P., Cintra, Vivian Pedigone, Bellacchio, Emanuele, Bosco, Luca, Alfieri, Paolo, Pro, Stefano, Zuchner, Stephan, Bertini, Enrico, Nicita, Francesco

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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome von Dohrn, Maike F., Rebelo, Adriana P., Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J., Züchner, Stephan

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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease von Rebelo, Adriana P., Ruiz, Ariel, Dohrn, Maike F., Wayand, Melanie, Farooq, Amjad, Danzi, Matt C., Beijer, Danique, Aaron, Brooke, Vandrovcova, Jana, Houlden, Henry, Matalonga, Leslie, Abreu, Lisa, Rouleau, Guy, Estiar, Mehrdad A., Van de Vondel, Liedewei, Gan-Or, Ziv, Baets, Jonathan, Schüle, Rebecca, Zuchner, Stephan

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Insights into the genotype‐phenotype correlation and molecular function of SLC25A46 von Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie B. L., Buglo, Elena, Campeanu, Ion J., Rebelo, Adriana P., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan

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Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI von Manganelli, Fiore, Parisi, Silvia, Nolano, Maria, Tao, Feifei, Paladino, Simona, Pisciotta, Chiara, Tozza, Stefano, Nesti, Claudia, Rebelo, Adriana P, Provitera, Vincenzo, Santorelli, Filippo M, Shy, Michael E, Russo, Tommaso, Zuchner, Stephan, Santoro, Lucio

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