Búsqueda | Biblioteca Virtual en Salud

1.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley, A Reghan; Menezes, Manoj P; Pandraud, Amelie; Gonzalez, Michael A; Al-Odaib, Ahmad; Abrams, Alexander J; Sugano, Kumiko; Yonezawa, Atsushi; Manzur, Adnan Y; Burns, Joshua; Hughes, Imelda; McCullagh, B Gary; Jungbluth, Heinz; Lim, Ming J; Lin, Jean-Pierre; Megarbane, Andre; Urtizberea, J Andoni; Shah, Ayaz H; Antony, Jayne; Webster, Richard; Broomfield, Alexander; Ng, Joanne; Mathew, Ann A; O'Byrne, James J; Forman, Eva; Scoto, Mariacristina; Prasad, Manish; O'Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Hargreaves, Iain; Land, John M; Wang, Min X; Carpenter, Kevin; Horvath, Rita; Straub, Volker; Lek, Monkol; Gold, Wendy; Farrell, Michael O; Brandner, Sebastian; Phadke, Rahul; Matsubara, Kazuo; McGarvey, Michael L; Scherer, Steven S; Baxter, Peter S; King, Mary D; Clayton, Peter; Rahman, Shamima; Reilly, Mary M; Ouvrier, Robert A.

Brain ; 137(Pt 1): 44-56, 2014 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-24253200

2.

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

Tucci, Arianna; Liu, Yo-Tsen; Preza, Elisabeth; Pitceathly, Robert D S; Chalasani, Annapurna; Plagnol, Vincent; Land, John M; Trabzuni, Daniah; Ryten, Mina; Jaunmuktane, Zane; Reilly, Mary M; Brandner, Sebastian; Hargreaves, Iain; Hardy, John; Singleton, Andrew B; Abramov, Andrey Y; Houlden, Henry.

J Neurol Neurosurg Psychiatry ; 85(5): 486-92, 2014 May.

Artículo en Inglés | MEDLINE | ID: mdl-24198383

3.

Poor maternal nutrition followed by accelerated postnatal growth leads to alterations in DNA damage and repair, oxidative and nitrosative stress, and oxidative defense capacity in rat heart.

Tarry-Adkins, Jane L; Martin-Gronert, Malgorzata S; Fernandez-Twinn, Denise S; Hargreaves, Iain; Alfaradhi, Maria Z; Land, John M; Aiken, Catherine E; Ozanne, Susan E.

FASEB J ; 27(1): 379-90, 2013 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-23024373

4.

Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard.

Duberley, Kate E C; Hargreaves, Iain P; Chaiwatanasirikul, Korn-Anong; Heales, Simon J R; Land, John M; Rahman, Shamima; Mills, Kevin; Eaton, Simon.

Rapid Commun Mass Spectrom ; 27(9): 924-30, 2013 May 15.

Artículo en Inglés | MEDLINE | ID: mdl-23592193

5.

Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia.

Avis, Hans J; Hargreaves, Ian P; Ruiter, Jos P N; Land, John M; Wanders, Ronald J; Wijburg, Frits A.

J Pediatr ; 158(3): 458-62, 2011 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-20884007

6.

Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states.

Allen, George F G; Neergheen, Viruna; Oppenheim, Marcus; Fitzgerald, Julia C; Footitt, Emma; Hyland, Keith; Clayton, Peter T; Land, John M; Heales, Simon J R.

J Neurochem ; 114(1): 87-96, 2010 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-20403077

7.

Fungal endophytes of native grasses decrease insect herbivore preference and performance.

Crawford, Kerri M; Land, John M; Rudgers, Jennifer A.

Oecologia ; 164(2): 431-44, 2010 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-20585809

8.

Oxidative stress and mitochondrial dysfunction in neurodegeneration; cardiolipin a critical target?

Pope, Simon; Land, John M; Heales, Simon J R.

Biochim Biophys Acta ; 1777(7-8): 794-9, 2008.

Artículo en Inglés | MEDLINE | ID: mdl-18420023

9.

A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.

Allen, George F G; Land, John M; Heales, Simon J R.

Mol Genet Metab ; 97(1): 6-14, 2009 May.

Artículo en Inglés | MEDLINE | ID: mdl-19231266

10.

Decreased ubiquinone availability and impaired mitochondrial cytochrome oxidase activity associated with statin treatment.

Duncan, Andrew J; Hargreaves, Iain P; Damian, Maxwell S; Land, John M; Heales, Simon J R.

Toxicol Mech Methods ; 19(1): 44-50, 2009 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-19778232

11.

The effect of HMG-CoA reductase inhibitors on coenzyme Q10: possible biochemical/clinical implications.

Hargreaves, Iain P; Duncan, Andrew J; Heales, Simon J R; Land, John M.

Drug Saf ; 28(8): 659-76, 2005.

Artículo en Inglés | MEDLINE | ID: mdl-16048353

12.

Biochemical diagnosis of coenzyme q10 deficiency.

Yubero, Delia; Montero, Raquel; Artuch, Rafael; Land, John M; Heales, Simon J R; Hargreaves, Iain P.

Mol Syndromol ; 5(3-4): 147-55, 2014 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25126047

13.

Dopamine but not l-dopa stimulates neural glutathione metabolism. Potential implications for Parkinson's and other dopamine deficiency states.

Allen, George F G; Ullah, Yasmin; Hargreaves, Iain P; Land, John M; Heales, Simon J R.

Neurochem Int ; 62(5): 684-94, 2013 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-23261515

14.

Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes.

Montero, Raquel; Grazina, Manuela; López-Gallardo, Ester; Montoya, Julio; Briones, Paz; Navarro-Sastre, Aleix; Land, John M; Hargreaves, Iain P; Artuch, Rafael.

Mitochondrion ; 13(4): 337-41, 2013 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-23583954

15.

Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen species.

Aylett, Sophie-Beth; Neergheen, Viruna; Hargreaves, Iain P; Eaton, Simon; Land, John M; Rahman, Shamima; Heales, Simon J R.

Neurochem Int ; 63(8): 750-5, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24140430

16.

Nrf2 impacts cellular bioenergetics by controlling substrate availability for mitochondrial respiration.

Holmström, Kira M; Baird, Liam; Zhang, Ying; Hargreaves, Iain; Chalasani, Annapurna; Land, John M; Stanyer, Lee; Yamamoto, Masayuki; Dinkova-Kostova, Albena T; Abramov, Andrey Y.

Biol Open ; 2(8): 761-70, 2013 Aug 15.

Artículo en Inglés | MEDLINE | ID: mdl-23951401

17.

SURF1 deficiency: a multi-centre natural history study.

Wedatilake, Yehani; Brown, Ruth M; McFarland, Robert; Yaplito-Lee, Joy; Morris, Andrew A M; Champion, Mike; Jardine, Phillip E; Clarke, Antonia; Thorburn, David R; Taylor, Robert W; Land, John M; Forrest, Katharine; Dobbie, Angus; Simmons, Louise; Aasheim, Erlend T; Ketteridge, David; Hanrahan, Donncha; Chakrapani, Anupam; Brown, Garry K; Rahman, Shamima.

Orphanet J Rare Dis ; 8: 96, 2013 Jul 05.

Artículo en Inglés | MEDLINE | ID: mdl-23829769

18.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

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; Reilly, Mary M; Hanna, Michael G.

JAMA Neurol ; 70(12): 1556-61, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24100867

19.

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.

Kasperaviciute, Dalia; Catarino, Claudia B; Chinthapalli, Krishna; Clayton, Lisa M S; Thom, Maria; Martinian, Lillian; Cohen, Hannah; Adalat, Shazia; Bockenhauer, Detlef; Pope, Simon A; Lench, Nicholas; Koltzenburg, Martin; Duncan, John S; Hammond, Peter; Hennekam, Raoul C M; Land, John M; Sisodiya, Sanjay M.

PLoS One ; 6(8): e23182, 2011.

Artículo en Inglés | MEDLINE | ID: mdl-21858020

20.

Copper deficiency.

Land, John M.

Ann Clin Biochem ; 42(Pt 1): 85, 2005 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-15802042

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