Endocrine disorders in mitochondrial disease()

Por Schaefer, Andrew M., Walker, Mark, Turnbull, Douglass M., Taylor, Robert W.
Publicado em 2013

Adult‐onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation

Por Martikainen, Mika H., Gorman, Grainne S., Goldsmith, Paul, Burn, David J., Turnbull, Doug M., Schaefer, Andrew M.
Publicado no Mov Disord (2015)

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation

Por Pyle, Angela, Taylor, Robert W, Durham, Steve E, Deschauer, Marcus, Schaefer, Andrew M, Samuels, David C, Chinnery, Patrick F
Publicado em 2007

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

Por Galna, Brook, Newman, Jane, Jakovljevic, Djordje G., Bates, Matthew G., Schaefer, Andrew M., McFarland, Robert, Turnbull, Douglass M., Trenell, Michael I., Gorman, Gráinne S., Rochester, Lynn
Publicado em 2013

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

Por Newman, Jane, Galna, Brook, Jakovljevic, Djordje G., Bates, Matthew G., Schaefer, Andrew M., McFarland, Robert, Turnbull, Douglass M., Trenell, Michael I., Taylor, Robert W., Rochester, Lynn, Gorman, Gráinne S.
Publicado no J Neuromuscul Dis (2015)

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Por Grady, John P., Campbell, Georgia, Ratnaike, Thiloka, Blakely, Emma L., Falkous, Gavin, Nesbitt, Victoria, Schaefer, Andrew M., McNally, Richard J., Gorman, Grainne S., Taylor, Robert W., Turnbull, Doug M., McFarland, Robert
Publicado em 2014

Epilepsy in adults with mitochondrial disease: A cohort study

Por Whittaker, Roger G., Devine, Helen E., Gorman, Grainne S., Schaefer, Andrew M., Horvath, Rita, Ng, Yi, Nesbitt, Victoria, Lax, Nichola Z., McFarland, Robert, Cunningham, Mark O., Taylor, Robert W., Turnbull, Douglass M.
Publicado no Ann Neurol (2015)

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

Por Vincent, Amy E., Ng, Yi Shiau, White, Kathryn, Davey, Tracey, Mannella, Carmen, Falkous, Gavin, Feeney, Catherine, Schaefer, Andrew M., McFarland, Robert, Gorman, Grainne S., Taylor, Robert W., Turnbull, Doug M., Picard, Martin
Publicado no Sci Rep (2016)

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Por Gorman, Gráinne S., Schaefer, Andrew M., Ng, Yi, Gomez, Nicholas, Blakely, Emma L., Alston, Charlotte L., Feeney, Catherine, Horvath, Rita, Yu‐Wai‐Man, Patrick, Chinnery, Patrick F., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert
Publicado no Ann Neurol (2015)

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Por Wesolowska, Maria, Gorman, Grainne S., Alston, Charlotte L., Pajak, Aleksandra, Pyle, Angela, He, Langping, Griffin, Helen, Chinnery, Patrick F., Miller, James A.L., Schaefer, Andrew M., Taylor, Robert W., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.
Publicado no J Neuromuscul Dis (2015)

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Por Alston, Charlotte L., Schaefer, Andrew M., Raman, Pravrutha, Solaroli, Nicola, Krishnan, Kim J., Blakely, Emma L., He, Langping, Craig, Kate, Roberts, Mark, Vyas, Aashish, Nixon, John, Horvath, Rita, Turnbull, Douglass M., Karlsson, Anna, Gorman, Grainne S., Taylor, Robert W.
Publicado em 2013

Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Por Ng, Yi Shiau, Feeney, Catherine, Schaefer, Andrew M., Holmes, Carol Ellen, Hynd, Paula, Alston, Charlotte L., Grady, John P., Roberts, Mark, Maguire, Mellisa, Bright, Alexandra, Taylor, Robert W., Yiannakou, Yan, McFarland, Robert, Turnbull, Doug M., Gorman, Gráinne S.
Publicado no Ann Neurol (2016)

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Por Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Publicado em 2012

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Por Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L., Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L., Alston, Charlotte L., Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H., Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R., Jaiser, Stephan R., Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M., Turnbull, Douglass M., Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F.
Publicado em 2014