Search Results - Bugiardini, Enrico

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy by 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

Get full text Get full text Get full text

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA(Gly) (MT-TG) variant by 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.

Get full text Get full text Get full text

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases by 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.

Get full text Get full text Get full text

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies by 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.

Get full text Get full text Get full text

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease by 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

Get full text Get full text Get full text

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease by 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

Get full text Get full text Get full text

ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms by 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

Get full text Get full text Get full text

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy by 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

Get full text Get full text Get full text

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms by 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

Get full text Get full text Get full text

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations by 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.

Get full text Get full text Get full text

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy by 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.

Get full text Get full text Get full text

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy by 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

Get full text Get full text Get full text

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair by 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.

Get full text Get full text Get full text

Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases by 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.

Get full text Get full text Get full text

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease by 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.

Get full text Get full text Get full text

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study by 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

Get full text Get full text Get full text