Results
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81.
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Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. [electronic resource] by
- 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
Publication details: Journal of neuromuscular diseases Oct 2015
In:
Journal of neuromuscular diseases vol. 2
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82.
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Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. [electronic resource] by
- 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
Producer: 20170605
In:
Annals of neurology vol. 80
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83.
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Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. [electronic resource] by
- Gorman, Gráinne S
- Pfeffer, Gerald
- Griffin, Helen
- Blakely, Emma L
- Kurzawa-Akanbi, Marzena
- Gabriel, Jessica
- Sitarz, Kamil
- Roberts, Mark
- Schoser, Benedikt
- Pyle, Angela
- Schaefer, Andrew M
- McFarland, Robert
- Turnbull, Douglass M
- Horvath, Rita
- Chinnery, Patrick F
- Taylor, Robert W
Producer: 20150318
In:
JAMA neurology vol. 72
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84.
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Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. [electronic resource] by
- 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
Producer: 20140127
In:
Neurology vol. 81
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85.
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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. [electronic resource] by
- Grady, John P
- Pickett, Sarah J
- Ng, Yi Shiau
- Alston, Charlotte L
- Blakely, Emma L
- Hardy, Steven A
- Feeney, Catherine L
- Bright, Alexandra A
- Schaefer, Andrew M
- Gorman, Gráinne S
- McNally, Richard Jq
- Taylor, Robert W
- Turnbull, Doug M
- McFarland, Robert
Producer: 20190423
In:
EMBO molecular medicine vol. 10
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86.
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Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. [electronic resource] by
- Rocha, Mariana C
- Rosa, Hannah S
- Grady, John P
- Blakely, Emma L
- He, Langping
- Romain, Nadine
- Haller, Ronald G
- Newman, Jane
- McFarland, Robert
- Ng, Yi Shiau
- Gorman, Grainne S
- Schaefer, Andrew M
- Tuppen, Helen A
- Taylor, Robert W
- Turnbull, Doug M
Producer: 20190122
In:
Annals of neurology vol. 83
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87.
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Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. [electronic resource] by
- Ng, Yi Shiau
- Grady, John P
- Lax, Nichola Z
- Bourke, John P
- Alston, Charlotte L
- Hardy, Steven A
- Falkous, Gavin
- Schaefer, Andrew G
- Radunovic, Aleksandar
- Mohiddin, Saidi A
- Ralph, Matilda
- Alhakim, Ali
- Taylor, Robert W
- McFarland, Robert
- Turnbull, Douglass M
- Gorman, Gráinne S
Producer: 20180405
In:
European heart journal vol. 37
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88.
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Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. [electronic resource] by
- Sommerville, Ewen W
- Dalla Rosa, Ilaria
- Rosenberg, Masha M
- Bruni, Francesco
- Thompson, Kyle
- Rocha, Mariana
- Blakely, Emma L
- He, Langping
- Falkous, Gavin
- Schaefer, Andrew M
- Yu-Wai-Man, Patrick
- Chinnery, Patrick F
- Hedstrom, Lizbeth
- Spinazzola, Antonella
- Taylor, Robert W
- Gorman, Gráinne S
Producer: 20210208
In:
Clinical genetics vol. 97
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89.
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Surveillance imaging for patients with head and neck cancer treated with definitive radiotherapy: A partially observed Markov decision process model. [electronic resource] by
- Ng, Sweet Ping
- Ajayi, Temitayo
- Schaefer, Andrew J
- Pollard, Courtney
- Bahig, Houda
- Garden, Adam S
- Rosenthal, David I
- Gunn, G Brandon
- Frank, Steven J
- Phan, Jack
- Morrison, William H
- Johnson, Jason M
- Mohamed, Abdallah S R
- Sturgis, Erich M
- Fuller, Clifton D
Producer: 20200817
In:
Cancer vol. 126
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90.
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Atypical periodic paralysis and myalgia: A novel [electronic resource] by
- Matthews, Emma
- Neuwirth, Christoph
- Jaffer, Fatima
- Scalco, Renata S
- Fialho, Doreen
- Parton, Matt
- Raja Rayan, Dipa
- Suetterlin, Karen
- Sud, Richa
- Spiegel, Roland
- Mein, Rachel
- Houlden, Henry
- Schaefer, Andrew
- Healy, Estelle
- Palace, Jacqueline
- Quinlivan, Ros
- Treves, Susan
- Holton, Janice L
- Jungbluth, Heinz
- Hanna, Michael G
Producer: 20190719
In:
Neurology vol. 90
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91.
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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. [electronic resource] by
- Belaya, Katsiaryna
- Rodríguez Cruz, Pedro M
- Liu, Wei Wei
- Maxwell, Susan
- McGowan, Simon
- Farrugia, Maria E
- Petty, Richard
- Walls, Timothy J
- Sedghi, Maryam
- Basiri, Keivan
- Yue, Wyatt W
- Sarkozy, Anna
- Bertoli, Marta
- Pitt, Matthew
- Kennett, Robin
- Schaefer, Andrew
- Bushby, Kate
- Parton, Matt
- Lochmüller, Hanns
- Palace, Jacqueline
- Muntoni, Francesco
- Beeson, David
Producer: 20151116
In:
Brain : a journal of neurology vol. 138
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92.
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Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease. [electronic resource] by
- Bates, Matthew G D
- Newman, Jane H
- Jakovljevic, Djordje G
- Hollingsworth, Kieren G
- Alston, Charlotte L
- Zalewski, Pawel
- Klawe, Jacek J
- Blamire, Andrew M
- MacGowan, Guy A
- Keavney, Bernard D
- Bourke, John P
- Schaefer, Andrew
- McFarland, Robert
- Newton, Julia L
- Turnbull, Douglass M
- Taylor, Robert W
- Trenell, Michael I
- Gorman, Gráinne S
Producer: 20140626
In:
International journal of cardiology vol. 168
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93.
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The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. [electronic resource] by
- Hall, Andrew M
- Vilasi, Annalisa
- Garcia-Perez, Isabel
- Lapsley, Marta
- Alston, Charlotte L
- Pitceathly, Robert D S
- McFarland, Robert
- Schaefer, Andrew M
- Turnbull, Doug M
- Beaumont, Nick J
- Hsuan, Justin J
- Cutillas, Pedro R
- Lindon, John C
- Holmes, Elaine
- Unwin, Robert J
- Taylor, Robert W
- Gorman, Grainne S
- Rahman, Shamima
- Hanna, Michael G
Producer: 20160126
In:
Kidney international vol. 87
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94.
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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. [electronic resource] by
- Sommerville, Ewen W
- Ng, Yi Shiau
- Alston, Charlotte L
- Dallabona, Cristina
- Gilberti, Micol
- He, Langping
- Knowles, Charlotte
- Chin, Sophie L
- Schaefer, Andrew M
- Falkous, Gavin
- Murdoch, David
- Longman, Cheryl
- de Visser, Marianne
- Bindoff, Laurence A
- Rawles, John M
- Dean, John C S
- Petty, Richard K
- Farrugia, Maria E
- Haack, Tobias B
- Prokisch, Holger
- McFarland, Robert
- Turnbull, Douglass M
- Donnini, Claudia
- Taylor, Robert W
- Gorman, Gráinne S
Producer: 20170719
In:
JAMA neurology vol. 74
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95.
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Usefulness of surveillance imaging in patients with head and neck cancer who are treated with definitive radiotherapy. [electronic resource] by
- Ng, Sweet Ping
- Pollard, Courtney
- Berends, Joel
- Ayoub, Zeina
- Kamal, Mona
- Garden, Adam S
- Bahig, Houda
- Cantor, Scott B
- Schaefer, Andrew J
- Ajayi, Temitayo
- Gunn, G Brandon
- Frank, Steven J
- Skinner, Heath
- Phan, Jack
- Morrison, William H
- Ferrarotto, Renata
- Johnson, Jason M
- Mohamed, Abdallah S R
- Lai, Stephen Y
- Hessel, Amy C
- Sturgis, Erich M
- Weber, Randal S
- Fuller, Clifton D
- Rosenthal, David I
Producer: 20200220
In:
Cancer vol. 125
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96.
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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. [electronic resource] by
- 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
Producer: 20130204
In:
Brain : a journal of neurology vol. 135
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97.
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Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. [electronic resource] 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
Producer: 20200330
In:
Annals of neurology vol. 86
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98.
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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. [electronic resource] by
- 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
Producer: 20140609
In:
Brain : a journal of neurology vol. 137
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99.
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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. [electronic resource] by
- Ng, Yi Shiau
- Lax, Nichola Z
- Maddison, Paul
- Alston, Charlotte L
- Blakely, Emma L
- Hepplewhite, Philippa D
- Riordan, Gillian
- Meldau, Surita
- Chinnery, Patrick F
- Pierre, Germaine
- Chronopoulou, Efstathia
- Du, Ailian
- Hughes, Imelda
- Morris, Andrew A
- Kamakari, Smaragda
- Chrousos, Georgia
- Rodenburg, Richard J
- Saris, Christiaan G J
- Feeney, Catherine
- Hardy, Steven A
- Sakakibara, Takafumi
- Sudo, Akira
- Okazaki, Yasushi
- Murayama, Kei
- Mundy, Helen
- Hanna, Michael G
- Ohtake, Akira
- Schaefer, Andrew M
- Champion, Mike P
- Turnbull, Doug M
- Taylor, Robert W
- Pitceathly, Robert D S
- McFarland, Robert
- Gorman, Gráinne S
Producer: 20180921
In:
EBioMedicine vol. 30
Availability: No items available.
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