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

Volltext

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

Volltext

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

Volltext

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.

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

Nutritional profile and dietary intake of antioxidants of street runners von Pinho, Wendel Luiz, Pederneiras Rebelo da Silva, Adriana, Aniceto Santana, Levy

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

Mitochondrial DNA transcription regulation and nucleoid organization von Rebelo, Adriana P., Dillon, Lloye M., Moraes, Carlos T.

Volltext