检索结果 - Horga, Alejandro

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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