檢索結果 - Bugiardini, Enrico

Mitochondrial Strokes: Diagnostic Challenges and Chameleons 由 Pizzamiglio, Chiara, Bugiardini, Enrico, Macken, William L., Woodward, Cathy E., Hanna, Michael G., Pitceathly, Robert D. S.

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Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2 由 Cardani, Rosanna, Bugiardini, Enrico, Renna, Laura V., Rossi, Giulia, Colombo, Graziano, Valaperta, Rea, Novelli, Giuseppe, Botta, Annalisa, Meola, Giovanni

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GSK3β mediates muscle pathology in myotonic dystrophy 由 Jones, Karlie, Wei, Christina, Iakova, Polina, Bugiardini, Enrico, Schneider-Gold, Christiane, Meola, Giovanni, Woodgett, James, Killian, James, Timchenko, Nikolai A., Timchenko, Lubov T.

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Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2 由 Perfetti, Alessandra, Greco, Simona, Fasanaro, Pasquale, Bugiardini, Enrico, Cardani, Rosanna, Manteiga, Jose M. Garcia., Riba, Michela, Cittaro, Davide, Stupka, Elia, Meola, Giovanni, Martelli, Fabio

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Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy 由 Bugiardini, Enrico, Rossor, Alexander M., Lynch, David S., Swash, Michael, Pittman, Alan M., Blake, Julian C., Hanna, Michael G., Houlden, Henry, Holton, Janice L., Reilly, Mary M., Matthews, Emma

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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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Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases 由 Bugiardini, Enrico, Pope, Simon, Feichtinger, René G., Poole, Olivia V., Pittman, Alan M., Woodward, Cathy E., Heales, Simon, Quinlivan, Rosaline, Houlden, Henry, Mayr, Johannes A., Hanna, Michael G., Pitceathly, Robert D.S.

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The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies 由 Bugiardini, Enrico, Morrow, Jasper M., Shah, Sachit, Wood, Claire L., Lynch, David S., Pitmann, Alan M., Reilly, Mary M., Houlden, Henry, Matthews, Emma, Parton, Matt, Hanna, Michael G., Straub, Volker, Yousry, Tarek A.

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Cell environment shapes TDP-43 function with implications in neuronal and muscle disease 由 Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Cortese, Andrea, Cereda, Cristina, Bugiardini, Enrico, Cardani, Rosanna, Meola, Giovanni, Ripolone, Michela, Moggio, Maurizio, Romano, Maurizio, Secrier, Maria, Fratta, Pietro, Buratti, Emanuele

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Vestibular dysfunction: a frequent problem for adults with mitochondrial disease 由 Holmes, Sarah, Male, Amanda J, Ramdharry, Gita, Woodward, Cathy, James, Natalie, Skorupinska, Iwona, Skorupinska, Mariola, Germain, Louise, Kozyra, Damian, Bugiardini, Enrico, Poole, Olivia V, Quinlivan, Ros, Hanna, Michael G, Kaski, Diego, Pitceathly, Robert D S

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ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms 由 Hostettler, Isabel C., O'Callaghan, Benjamin, Bugiardini, Enrico, O'Connor, Emer, Vandrovcova, Jana, Davagnanam, Indran, Alg, Varinder, Bonner, Stephen, Walsh, Daniel, Bulters, Diederik, Kitchen, Neil, Brown, Martin M., Grieve, Joan, Werring, David J., Houlden, Henry

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Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy 由 O’Connor, Emer, Vandrovcova, Jana, Bugiardini, Enrico, Chelban, Viorica, Manole, Andreea, Davagnanam, Indran, Wiethoff, Sarah, Pittman, Alan, Lynch, David S, Efthymiou, Stephanie, Marino, Silvia, Manzur, Adnan Y, Roberts, Mark, Hanna, Michael G, Houlden, Henry, Matthews, Emma, Wood, Nicholas W

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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms 由 Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O’Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma

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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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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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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy 由 Bugiardini, Enrico, Mitchell, Alice L, Rosa, Ilaria Dalla, Horning-Do, Hue-Tran, Pitmann, Alan M, Poole, Olivia V, Holton, Janice L, Shah, Sachit, Woodward, Cathy, Hargreaves, Iain, Quinlivan, Rosaline, Amunts, Alexey, Wiesner, Rudolf J, Houlden, Henry, Holt, Ian J, Hanna, Michael G, Pitceathly, Robert D S, Spinazzola, Antonella

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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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Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 由 Poole, Olivia V., Pizzamiglio, Chiara, Murphy, David, Falabella, Micol, Macken, William L., Bugiardini, Enrico, Woodward, Cathy E., Labrum, Robyn, Efthymiou, Stephanie, Salpietro, Vincenzo, Chelban, Viorica, Kaiyrzhanov, Rauan, Maroofian, Reza, Amato, Anthony A., Gregory, Allison, Hayflick, Susan J., Jonvik, Hallgeir, Wood, Nicholas, Houlden, Henry, Vandrovcova, Jana, Hanna, Michael G., Pittman, Alan, Pitceathly, Robert D.S.

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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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Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study 由 Ng, Yi Shiau, Martikainen, Mika H., Gorman, Gráinne S., Blain, Alasdair, Bugiardini, Enrico, Bunting, Apphia, Schaefer, Andrew M., Alston, Charlotte L., Blakely, Emma L., Sharma, Sunil, Hughes, Imelda, Lim, Albert, de Goede, Christian, McEntagart, Meriel, Spinty, Stefan, Horrocks, Iain, Roberts, Mark, Woodward, Cathy E., Chinnery, Patrick F., Horvath, Rita, Nesbitt, Victoria, Fratter, Carl, Poulton, Joanna, Hanna, Michael G., Pitceathly, Robert D. S., Taylor, Robert W., Turnbull, Doug M., McFarland, Robert

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