Rezultati pretrage - Rebelo, Adriana

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

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The Role of PGC-1 Coactivators in Aging Skeletal Muscle and Heart od Dillon, Lloye M., Rebelo, Adriana P., Moraes, Carlos T.

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

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Mutations in BAG3 Cause Adult Onset Charcot-Marie-Tooth Disease od Shy, Michael E., Rebelo, Adriana P., Freely, Shawna M.E., Abreu, Lisa A., Tao, Feifei, Bacon, Chelsea, Zuchner, Stephan

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POLG mutations presenting as CMT od Phillips, Jade, Courel, Steve, Rebelo, Adriana P., Bis-Brewer, Dana M., Bardakjian, Tanya, Dankwa, Lois, Hamedani, Ali G., Züchner, Stephan, Scherer, Steven S.

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Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype od Montes-Chinea, Nataly I., Guan, Zhuo, Coutts, Marcella, Vidal, Cecilia, Courel, Steve, Rebelo, Adriana P., Abreu, Lisa, Zuchner, Stephan, Littleton, J. Troy, Saporta, Mario A.

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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency od 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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Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death od Jacquier, Arnaud, Delorme, Cécile, Belotti, Edwige, Juntas-Morales, Raoul, Solé, Guilhem, Dubourg, Odile, Giroux, Marianne, Maurage, Claude-Alain, Castellani, Valérie, Rebelo, Adriana, Abrams, Alexander, Züchner, Stephan, Stojkovic, Tanya, Schaeffer, Laurent, Latour, Philippe

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RARE MUTATIONS IN ATL3, SPTLC2 AND SCN9A EXPLAINING HEREDITARY SENSORY NEUROPATHY AND CONGENITAL INSENSITIVITY TO PAIN IN A BRAZILIAN COHORT od Cintra, Vivian Pedigone, Dohrn, Maike F., Tomaselli, Pedro José, Figueiredo, Fernanda Barbosa, Marques, Sandra Elisabete, Camargos, Sarah Teixeira, Mageste Barbosa, Luiz Sergio, Rebelo, Adriana, Abreu, Lisa, Danzi, Matt, Marques, Wilson, Züchner, Stephan

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Motor protein mutations cause a new form of hereditary spastic paraplegia od Caballero Oteyza, Andrés, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P., Gonzalez, Michael A., Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Günther, Züchner, Stephan, Schöls, Ludger, Schüle, Rebecca

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Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI od 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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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome od 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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PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA od Ozes, Burcak, Karagoz, Nazan, Schüle, Rebecca, Rebelo, Adriana, Sobrido, María-Jesús, Harmuth, Florian, Synofzik, Matthis, Pascual, Samuel Ignacio Pascual, Colak, Melek, Ciftci-Kavaklioglu, Beyza, Kara, Batuhan, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Gonzalez, Michael A., Soysal, Aysun, Zuchner, Stephan, Battaloglu, Esra

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PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum od Synofzik, Matthis, Gonzalez, Michael A., Lourenco, Charles Marques, Coutelier, Marie, Haack, Tobias B., Rebelo, Adriana, Hannequin, Didier, Strom, Tim M., Prokisch, Holger, Kernstock, Christoph, Durr, Alexandra, Schöls, Ludger, Lima-Martínez, Marcos M., Farooq, Amjad, Schüle, Rebecca, Stevanin, Giovanni, Marques, Wilson, Züchner, Stephan

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Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy od Horga, Alejandro, Bugiardini, Enrico, Manole, Andreea, Bremner, Fion, Jaunmuktane, Zane, Dankwa, Lois, Rebelo, Adriana P., Woodward, Catherine E., Hargreaves, Iain P., Cortese, Andrea, Pittman, Alan M., Brandner, Sebastian, Polke, James M., Pitceathly, Robert D.S., Züchner, Stephan, Hanna, Michael G., Scherer, Steven S., Houlden, Henry, Reilly, Mary M.

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement od Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

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Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement od Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy od 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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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 od 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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Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks od Meister-Broekema, Melanie, Freilich, Rebecca, Jagadeesan, Chandhuru, Rauch, Jennifer N., Bengoechea, Rocio, Motley, William W., Kuiper, E. F. Elsiena, Minoia, Melania, Furtado, Gabriel V., van Waarde, Maria A. W. H., Bird, Shawn J., Rebelo, Adriana, Zuchner, Stephan, Pytel, Peter, Scherer, Steven S., Morelli, Federica F., Carra, Serena, Weihl, Conrad C., Bergink, Steven, Gestwicki, Jason E., Kampinga, Harm H.

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