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Extra-ocular muscle MRI in genetically-defined mitochondrial disease.
Published in:
2016
By:
- Pitceathly, Robert;
- Morrow, Jasper;
- Sinclair, Christopher;
- Woodward, Cathy;
- Sweeney, Mary;
- Rahman, Shamima;
- Plant, Gordon;
- Ali, Nadeem;
- Bremner, Fion;
- Davagnanam, Indran;
- Yousry, Tarek;
- Hanna, Michael;
- Thornton, John;
- Pitceathly, Robert D S;
- Morrow, Jasper M;
- Sinclair, Christopher D J;
- Sweeney, Mary G;
- Plant, Gordon T;
- Yousry, Tarek A;
- Hanna, Michael G
Publication type:
journal article
Rhabdomyolysis: a genetic perspective.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0264-3
By:
- Scalco, Renata Siciliani;
- Gardiner, Alice R.;
- Pitceathly, Robert D. S.;
- Zanoteli, Edmar;
- Becker, Jefferson;
- Holton, Janice L.;
- Houlden, Henry;
- Jungbluth, Heinz;
- Quinlivan, Ros
Publication type:
Article
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
By:
- Harel, Tamar;
- Spicher, Camille;
- Scheer, Elisabeth;
- Buchan, Jillian G;
- Cech, Jennifer;
- Folland, Chiara;
- Frey, Tanja;
- Holtz, Alexander M;
- Innes, A Micheil;
- Keren, Boris;
- Macken, William L;
- Marcelis, Carlo;
- Otten, Catherine E;
- Paolucci, Sarah A;
- Petit, Florence;
- Pfundt, Rolph;
- Pitceathly, Robert D S;
- Rauch, Anita;
- Ravenscroft, Gianina;
- Sanchev, Rani
Publication type:
Article
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3200, doi. 10.1093/brain/awu279
By:
- Horga, Alejandro;
- Pitceathly, Robert D. S.;
- Blake, Julian C.;
- Woodward, Catherine E.;
- Zapater, Pedro;
- Fratter, Carl;
- Mudanohwo, Ese E.;
- Plant, Gordon T.;
- Houlden, Henry;
- Sweeney, Mary G.;
- Hanna, Michael G.;
- Reilly, Mary M.
Publication type:
Article
Cognitive and sleep evaluation of Myotonic dystrophy type I: A protocol for a case‐control study.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.075996
By:
- MISHRA, RINKLE;
- Gupta, Anu;
- Garg, Divyani;
- Padma, Vasantha;
- BHATIA, ROHIT;
- Macken, William L;
- Dalal, Ashwin;
- Ahmad, Tanveer;
- Reyaz, Alisha;
- Pitceathly, Robert D. S.;
- Thangaraj, K;
- Hanna, Michael G;
- Vishnu, Venugopalan Y
Publication type:
Article
Haploinsufficiency of progranulin causes mitochondrial dysfunction.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.070907
By:
- Bautista, Javier S.;
- Falabella, Micol;
- Lu, Shanti;
- Rohrer, Jonathan D.;
- Plun‐Favreau, Helene;
- Wray, Selina;
- Taanman, Jan‐Willam;
- Pitceathly, Robert D. S.;
- Pitceathly, Robert D.S.
Publication type:
Article
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3328, doi. 10.1210/clinem/dgac528
By:
- Tucker, Elena J.;
- Baker, Megan J.;
- Hock, Daniella H.;
- Warren, Julia T.;
- Jaillard, Sylvie;
- Bell, Katrina M.;
- Sreenivasan, Rajini;
- Bakhshalizadeh, Shabnam;
- Hanna, Chloe A.;
- Caruana, Nikeisha J.;
- Wortmann, Saskia B.;
- Rahman, Shamima;
- Pitceathly, Robert D. S.;
- Donadieu, Jean;
- Alimi, Aurelia;
- Launay, Vincent;
- Coppo, Paul;
- Christin-Maitre, Sophie;
- Robevska, Gorjana;
- van den Bergen, Jocelyn
Publication type:
Article
Acceptability of Audiovestibular Assessment in the Home—A Patient Survey.
Published in:
Audiology Research, 2024, v. 14, n. 3, p. 545, doi. 10.3390/audiolres14030045
By:
- Male, Amanda J.;
- Koohi, Nehzat;
- Holmes, Sarah L.;
- Pitceathly, Robert D. S.;
- Kaski, Diego
Publication type:
Article
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26829-0
By:
- Pantic, Boris;
- Ives, Daniel;
- Mennuni, Mara;
- Perez-Rodriguez, Diego;
- Fernandez-Pelayo, Uxoa;
- Lopez de Arbina, Amaia;
- Muñoz-Oreja, Mikel;
- Villar-Fernandez, Marina;
- Dang, Thanh-mai Julie;
- Vergani, Lodovica;
- Johnston, Iain G.;
- Pitceathly, Robert D. S.;
- McFarland, Robert;
- Hanna, Michael G.;
- Taylor, Robert W.;
- Holt, Ian J.;
- Spinazzola, Antonella
Publication type:
Article
Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26746-2
By:
- Chung, Chih-Yao;
- Singh, Kritarth;
- Kotiadis, Vassilios N.;
- Valdebenito, Gabriel E.;
- Ahn, Jee Hwan;
- Topley, Emilie;
- Tan, Joycelyn;
- Andrews, William D.;
- Bilanges, Benoit;
- Pitceathly, Robert D. S.;
- Szabadkai, Gyorgy;
- Yuneva, Mariia;
- Duchen, Michael R.
Publication type:
Article
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
Published in:
Kidney International, 2015, v. 87, n. 3, p. 610, doi. 10.1038/ki.2014.297
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
Publication type:
Article
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Published in:
EMBO Journal, 2020, v. 39, n. 23, p. 1, doi. 10.15252/embj.2020105364
By:
- Hathazi, Denisa;
- Griffin, Helen;
- Jennings, Matthew J;
- Giunta, Michele;
- Powell, Christopher;
- Pearce, Sarah F;
- Munro, Benjamin;
- Wei, Wei;
- Boczonadi, Veronika;
- Poulton, Joanna;
- Pyle, Angela;
- Calabrese, Claudia;
- Gomez‐Duran, Aurora;
- Schara, Ulrike;
- Pitceathly, Robert D S;
- Hanna, Michael G;
- Joost, Kairit;
- Cotta, Ana;
- Paim, Julia Filardi;
- Navarro, Monica Machado
Publication type:
Article
Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures.
Published in:
2020
By:
- Paramasivam, Arumugam;
- Meena, Angamuthu K.;
- Venkatapathi, Challa;
- Pitceathly, Robert D. S.;
- Thangaraj, Kumarasamy
Publication type:
Correction Notice
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
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.
Publication type:
Article
Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports.
Published in:
2020
By:
- Roper, Tayeba;
- Harber, Mark;
- Jones, Gareth;
- Pitceathly, Robert D. S.;
- Salama, Alan D.
Publication type:
journal article
Mitochondrial Extrapyramidal Syndromes.
Published in:
JAMA Neurology, 2016, v. 73, n. 6, p. 630, doi. 10.1001/jamaneurol.2016.0756
By:
- Pitceathly, Robert D. S.
Publication type:
Article
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
Published in:
JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
By:
- Pitceathly, Robert D. S.;
- Taanman, Jan-Willem;
- Rahman, Shamima;
- Meunier, Brigitte;
- Sadowski, Michael;
- Cirak, Sebahattin;
- Hargreaves, Iain;
- Land, John M.;
- Nanji, Tina;
- Polke, James M.;
- Woodward, Cathy E.;
- Sweeney, Mary G.;
- Solanki, Shyam;
- Foley, A. Reghan;
- Hurles, Matthew E.;
- Stalker, Jim;
- Blake, Julian;
- Holton, Janice L.;
- Phadke, Rahul;
- Muntoni, Francesco
Publication type:
Article
Use of Twitter in Neurology: Boon or Bane?
Published in:
2021
By:
- Mishra, Biswamohan;
- Saini, Monica;
- Doherty, Carolynne M;
- Pitceathly, Robert D S;
- Rajan, Roopa;
- Siddiqi, Omar K;
- Ramdharry, Gita;
- Asranna, Ajay;
- Tomaselli, Pedro Jose;
- Kermode, Allan G;
- Bajwa, Jawad A;
- Garg, Divyani;
- Vishnu, Venugopalan Y
Publication type:
journal article
Copper deficiency: an unusual case of myelopathy with neuropathy.
Published in:
2008
By:
- Bertfield, Deborah L.;
- Jumma, Odai;
- Pitceathly, Robert D. S.;
- Sussman, Jon D.
Publication type:
Case Study
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231
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
Publication type:
Article
Correction to: Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus.
Published in:
2023
By:
- Male, Amanda J.;
- Holmes, Sarah L.;
- Hanna, Michael G.;
- Pitceathly, Robert D. S.;
- Ramdharry, Gita M.;
- Kaski, Diego
Publication type:
Correction Notice
Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus.
Published in:
Journal of Neurology, 2023, v. 270, n. 6, p. 3252, doi. 10.1007/s00415-023-11640-2
By:
- Male, Amanda J.;
- Holmes, Sarah L.;
- Hanna, Michael G.;
- Pitceathly, Robert D. S.;
- Ramdharry, Gita M.;
- Kaski, Diego
Publication type:
Article
Self-reported postural symptoms predict vestibular dysfunction and falls in patients with multi-sensory impairment.
Published in:
Journal of Neurology, 2022, v. 269, n. 5, p. 2788, doi. 10.1007/s00415-021-10921-y
By:
- Bennett, Emily;
- Holmes, Sarah;
- Koohi, Nehzat;
- Islam, Saiful;
- Bancroft, Matthew;
- Male, Amanda;
- Hanna, Michael G.;
- Pitceathly, Robert D. S.;
- Kaski, Diego
Publication type:
Article
Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
By:
- Bindoff, Laurence A.;
- Brown, David A.;
- Gorman, Gráinne S.;
- Karaa, Amel;
- Keshavan, Nandaki;
- Lamperti, Constanza;
- Mancuso, Michelangelo;
- McFarland, Robert;
- Ng, Yi Shiau;
- O'Callaghan, Mar;
- Pitceathly, Robert D. S.;
- Rahman, Shamima;
- Russel, Frans G. M.;
- Schirris, Tom J. J.;
- Varhaug, Kristin N.;
- De Vries, Maaike C.
Publication type:
Article
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196
By:
- De Vries, Maaike C.;
- Brown, David A.;
- Allen, Mitchell E.;
- Bindoff, Laurence;
- Gorman, Gráinne S.;
- Karaa, Amel;
- Keshavan, Nandaki;
- Lamperti, Costanza;
- McFarland, Robert;
- Ng, Yi Shiau;
- O'Callaghan, Mar;
- Pitceathly, Robert D. S.;
- Rahman, Shamima;
- Russel, Frans G. M.;
- Varhaug, Kristin N.;
- Schirris, Tom J. J.;
- Mancuso, Michelangelo
Publication type:
Article
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093
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
Publication type:
Article
A diagnostic framework to identify vestibular involvement in multi‐sensory neurological disease.
Published in:
European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16216
By:
- Male, Amanda J.;
- Holmes, Sarah L.;
- Koohi, Nehzat;
- Dudziec, Magdalena;
- Hanna, Michael G.;
- Ramdharry, Gita M.;
- Pizzamiglio, Chiara;
- Pitceathly, Robert D. S.;
- Kaski, Diego
Publication type:
Article
Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry.
Published in:
European Journal of Neurology, 2023, v. 30, n. 2, p. 399, doi. 10.1111/ene.15613
By:
- Pizzamiglio, Chiara;
- Pitceathly, Robert D. S.;
- Lunn, Michael P.;
- Brady, Stefen;
- De Marchi, Fabiola;
- Galan, Lucia;
- Heckmann, Jeannine M.;
- Horga, Alejandro;
- Molnar, Maria J.;
- Oliveira, Acary S. B.;
- Pinto, Wladimir B. V. R.;
- Primiano, Guido;
- Santos, Ernestina;
- Schoser, Benedikt;
- Servidei, Serenella;
- Sgobbi Souza, Paulo V.;
- Venugopalan, Vishnu;
- Hanna, Michael G.;
- Dimachkie, Mazen M.;
- Machado, Pedro M.
Publication type:
Article
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
Published in:
PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145500
By:
- Rajakulendran, Sanjeev;
- Pitceathly, Robert D. S.;
- Taanman, Jan-Willem;
- Costello, Harry;
- Sweeney, Mary G.;
- Woodward, Cathy E.;
- Jaunmuktane, Zane;
- Holton, Janice L.;
- Jacques, Thomas S.;
- Harding, Brian N.;
- Fratter, Carl;
- Hanna, Michael G.;
- Rahman, Shamima
Publication type:
Article
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Published in:
Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1
By:
- Horga, Alejandro;
- Manole, Andreea;
- Mitchell, Alice L.;
- Bugiardini, Enrico;
- Hargreaves, Iain P.;
- Mowafi, Walied;
- Bettencourt, Conceição;
- Blakely, Emma L.;
- He, Langping;
- Polke, James M.;
- Woodward, Catherine E.;
- Dalla Rosa, Ilaria;
- Shah, Sachit;
- Pittman, Alan M.;
- Quinlivan, Ros;
- Reilly, Mary M.;
- Taylor, Robert W.;
- Holt, Ian J.;
- Hanna, Michael G.;
- Pitceathly, Robert D. S.
Publication type:
Article
Mitochondrial Strokes: Diagnostic Challenges and Chameleons.
Published in:
Genes, 2021, v. 12, n. 10, p. 1643, doi. 10.3390/genes12101643
By:
- Pizzamiglio, Chiara;
- Bugiardini, Enrico;
- Macken, William L.;
- Woodward, Cathy E.;
- Hanna, Michael G.;
- Pitceathly, Robert D. S.
Publication type:
Article

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