Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1 -Related Diseases
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
Published in Journal of clinical medicine (08.07.2019)
Published in Journal of clinical medicine (08.07.2019)
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Journal Article
Primary mitochondrial diseases increase susceptibility to bipolar affective disorder
Colasanti, Alessandro, Bugiardini, Enrico, Amawi, Sami, Poole, Olivia V, Skorupinska, Iwona, Skorupinska, Mariola, Germain, Louise, Kozyra, Damian, Holmes, Sarah, James, Natalie, Woodward, Cathy E, Quinlivan, Rosaline, Young, Allan H, Hanna, Michael G, Pitceathly, Robert D S
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2020)
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Journal Article
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
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., Alkhawaja, Issam, Banu, Selina, Bonsignore, Maria, Breza, Marianthi, Di Rosa, Gabriella, Heidari, Morteza, Koutsis, Georgios, Maagdenberg, Arn M.J.M., Macaya, Alfons, Münchau, Alexander, Scuderi, Carmela, Zharkinbekova, Nazira
Published in Annals of neurology (01.06.2021)
Published in Annals of neurology (01.06.2021)
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Journal Article
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
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
Published in Human molecular genetics (15.08.2019)
Published in Human molecular genetics (15.08.2019)
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Journal Article
Vestibular dysfunction: a frequent problem for adults with mitochondrial disease
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
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2019)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2019)
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Journal Article
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1
Poole, Olivia V, Everett, Chris M, Gandhi, Sonia, Marino, Silvia, Bugiardini, Enrico, Woodward, Cathy, Lam, Amanda, Quinlivan, Ros, Hanna, Michael G, Pitceathly, Robert D S
Published in Mitochondrion (01.07.2019)
Published in Mitochondrion (01.07.2019)
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Journal Article
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
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
Published in Neurology. Genetics (01.02.2020)
Published in Neurology. Genetics (01.02.2020)
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Journal Article
Mitochondrial disorders: disease mechanisms and therapeutic approaches
Poole, Olivia V, Hanna, Michael G, Pitceathly, Robert D S
Published in Discovery medicine (01.11.2015)
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Published in Discovery medicine (01.11.2015)
Journal Article
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA Gly ( MT-TG ) variant
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
Published in Neurology. Genetics (01.04.2020)
Published in Neurology. Genetics (01.04.2020)
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Journal Article
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant
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
Published in Neurology. Genetics (01.04.2020)
Published in Neurology. Genetics (01.04.2020)
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Journal Article
Clinicopathologic and molecular spectrum of RNASEH1 -related mitochondrial disease
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
Published in Neurology. Genetics (01.06.2017)
Published in Neurology. Genetics (01.06.2017)
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Journal Article
Mutant TRIAP1 causes impaired mitochondrial bioenergetics and myopathy
Falabella, Micol, Tabara, Luis Carlos, Poole, Olivia V., Tatsuta, Takashi, Lu, Shanti, Woodward, Cathy E., Labrum, Robyn, Hewamadduma, Channa, Fernandez-Vizarra, Erika, Langer, Thomas, Taanman, Jan-Willem, Hanna, Michael G., Prudent, Julien, Spinazzola, Antonella, Pitceathly, Robert D.S.
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2022)
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2022)
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Journal Article
Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
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.
Published in Annals of neurology (01.06.2021)
Published in Annals of neurology (01.06.2021)
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Journal Article
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases
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
Published in Journal of clinical medicine (08.07.2019)
Published in Journal of clinical medicine (08.07.2019)
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