Výsledky vyhledávání - Horga, Alejandro

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder Autor Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Laura, Matilde, Blake, Julian C., Houlden, Henry, Reilly, Mary M.

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IGHMBP2 mutation associated with organ-specific autonomic dysfunction Autor Tomaselli, Pedro J., Horga, Alejandro, Rossor, Alexander M., Jaunmuktane, Zane, Cortese, Andrea, Blake, Julian C., Zarate-Lopez, Natalia, Houlden, Henry, Reilly, Mary M.

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SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome Autor Horga, Alejandro, Tomaselli, Pedro J., Gonzalez, Michael A., Laurà, Matilde, Muntoni, Francesco, Manzur, Adnan Y., Hanna, Michael G., Blake, Julian C., Houlden, Henry, Züchner, Stephan, Reilly, Mary M.

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Prevalence study of genetically defined skeletal muscle channelopathies in England Autor Horga, Alejandro, Raja Rayan, Dipa L., Matthews, Emma, Sud, Richa, Fialho, Doreen, Durran, Siobhan C.M., Burge, James A., Portaro, Simona, Davis, Mary B., Haworth, Andrea, Hanna, Michael G.

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Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA(Gly) (MT-TG) variant Autor Poole, Olivia V., Horga, Alejandro, Hardy, Steven A., Bugiardini, Enrico, Woodward, Cathy E., Hargreaves, Iain P., Merve, Ashirwad, Quinlivan, Rosaline, Taylor, Robert W., Hanna, Michael G., Pitceathly, Robert D.S.

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Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia Autor Horga, Alejandro, Pitceathly, Robert D. S., Blake, Julian C., Woodward, Catherine E., Zapater, Pedro, Fratter, Carl, Mudanohwo, Ese E., Plant, Gordon T., Houlden, Henry, Sweeney, Mary G., Hanna, Michael G., Reilly, Mary M.

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Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT Autor Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Jaunmuktane, Zane, Carr, Aisling, Saveri, Paola, Piscosquito, Giuseppe, Pareyson, Davide, Laura, Matilde, Blake, Julian C., Poh, Roy, Polke, James, Houlden, Henry, Reilly, Mary M.

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Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy Autor Liu, Yo-Tsen, Laurá, Matilde, Hersheson, Joshua, Horga, Alejandro, Jaunmuktane, Zane, Brandner, Sebastian, Pittman, Alan, Hughes, Deborah, Polke, James M., Sweeney, Mary G., Proukakis, Christos, Janssen, John C., Auer-Grumbach, Michaela, Zuchner, Stephan, Shields, Kevin G., Reilly, Mary M., Houlden, Henry

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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease Autor Horga, Alejandro, Laurà, Matilde, Jaunmuktane, Zane, Jerath, Nivedita U, González, Michael A, Polke, James, Poh, Roy, Blake, Julian C, Liu, Yo-Tsen, Wiethoff, Sarah, Bettencourt, Conceição, Hanna, Michael G, Houlden, Henry, Brandner, Sebastian, Züchner, Stephan, Shy, Michael E, Reilly, Mary M

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Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations Autor Bugiardini, Enrico, Bottani, Emanuela, Marchet, Silvia, Poole, Olivia V., Beninca, Cristiane, Horga, Alejandro, Woodward, Cathy, Lam, Amanda, Hargreaves, Iain, Chalasani, Annapurna, Valerio, Alessandra, Lamantea, Eleonora, Venner, Kerrie, Holton, Janice L., Zeviani, Massimo, Houlden, Henry, Quinlivan, Rosaline, Lamperti, Costanza, Hanna, Michael G., Pitceathly, Robert D.S.

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Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes Autor Pizzamiglio, Chiara, Jonvik, Hallgeir, Brady, Stefen, Chinnery, Patrick, Galàn, Lucía, Gorman, Grainne, Horga, Alejandro, Horvath, Rita, Janssen, Mirian, Lim, Albert, Mancuso, Michelangelo, Mcfarland, Robert, Molnar, Maria, Musumeci, Olimpia, Nesbitt, Victoria, Wladimir, Primiano, Guido, Santos, Ernestina, Servidei, Serenella, Thomas, Rhys, Hanna, Michael, Machado, Pedro, Pitceathly, Robert

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Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy Autor 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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Natalizumab-related anaphylactoid reactions in MS patients are associated with HLA class II alleles Autor de la Hera, Belén, Urcelay, Elena, Brassat, David, Chan, Andrew, Vidal-Jordana, Angela, Salmen, Anke, Villar, Luisa Maria, Álvarez-Cermeño, José Carlos, Izquierdo, Guillermo, Fernández, Oscar, Oliver, Begoña, Saiz, Albert, Ara, Jose Ramón, Vigo, Ana G., Arroyo, Rafael, Meca, Virginia, Malhotra, Sunny, Fissolo, Nicolás, Horga, Alejandro, Montalban, Xavier, Comabella, Manuel

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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair Autor Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reilly, Mary M., Houlden, Henry, Sweeney, Mary G., Brown, Garry K., Polke, James M., Gago, Federico, Parton, Matthew J., Pitceathly, Robert D. S., Hanna, Michael G.

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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy Autor 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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Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease Autor Bugiardini, Enrico, Poole, Olivia V., Manole, Andreea, Pittman, Alan M., Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Holton, Janice L., Taanman, Jan-Willem, Plant, Gordon T., Poulton, Joanna, Zeviani, Massimo, Ghezzi, Daniele, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A., Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J., Houlden, Henry, Hanna, Michael G., Pitceathly, Robert D.S.

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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy Autor Manole, Andreea, Jaunmuktane, Zane, Hargreaves, Iain, Ludtmann, Marthe H R, Salpietro, Vincenzo, Bello, Oscar D, Pope, Simon, Pandraud, Amelie, Horga, Alejandro, Scalco, Renata S, Li, Abi, Ashokkumar, Balasubramaniem, Lourenço, Charles M, Heales, Simon, Horvath, Rita, Chinnery, Patrick F, Toro, Camilo, Singleton, Andrew B, Jacques, Thomas S, Abramov, Andrey Y, Muntoni, Francesco, Hanna, Michael G, Reilly, Mary M, Revesz, Tamas, Kullmann, Dimitri M, Jepson, James E C, Houlden, Henry

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Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 Autor Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., Houlden, Henry

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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion Autor Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Autor Manole, Andreea, Efthymiou, Stephanie, O’Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry

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