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Items: 1 to 20 of 163

1.

PDXK mutations cause polyneuropathy responsive to PLP supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium; SYNaPS Study Group.

Ann Neurol. 2019 Jun 11. doi: 10.1002/ana.25524. [Epub ahead of print]

PMID:
31187503
2.

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA.

J Inherit Metab Dis. 2018 Nov;41(6):1299-1301. doi: 10.1007/s10545-018-0247-3.

PMID:
30456588
3.

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA.

J Inherit Metab Dis. 2018 Nov;41(6):1275-1283. doi: 10.1007/s10545-018-0227-7. Epub 2018 Aug 30. Erratum in: J Inherit Metab Dis. 2018 Nov 19;:.

4.

Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders.

Augustin K, Khabbush A, Williams S, Eaton S, Orford M, Cross JH, Heales SJR, Walker MC, Williams RSB.

Lancet Neurol. 2018 Jan;17(1):84-93. doi: 10.1016/S1474-4422(17)30408-8. Epub 2017 Dec 16. Review.

PMID:
29263011
5.

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Batllori M, Molero-Luis M, Ormazabal A, Casado M, Sierra C, García-Cazorla A, Kurian M, Pope S, Heales SJ, Artuch R.

Nat Protoc. 2017 Nov;12(11):2359-2375. doi: 10.1038/nprot.2017.103. Epub 2017 Oct 19.

PMID:
29048424
6.

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.

Parviainen L, Dihanich S, Anderson GW, Wong AM, Brooks HR, Abeti R, Rezaie P, Lalli G, Pope S, Heales SJ, Mitchison HM, Williams BP, Cooper JD.

Acta Neuropathol Commun. 2017 Oct 17;5(1):74. doi: 10.1186/s40478-017-0476-y.

7.

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB.

Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17.

8.

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

Manea E, Gissen P, Pope S, Heales SJ, Batzios S.

JIMD Rep. 2018;39:7-12. doi: 10.1007/8904_2017_39. Epub 2017 Jul 7.

9.

Neuronal decanoic acid oxidation is markedly lower than that of octanoic acid: A mechanistic insight into the medium-chain triglyceride ketogenic diet.

Khabbush A, Orford M, Tsai YC, Rutherford T, O'Donnell M, Eaton S, Heales SJR.

Epilepsia. 2017 Aug;58(8):1423-1429. doi: 10.1111/epi.13833. Epub 2017 Jul 6.

10.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A.

Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.

11.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
12.

An examination of biochemical parameters and their association with response to ketogenic dietary therapies.

Schoeler NE, Bell G, Yuen A, Kapelner AD, Heales SJR, Cross JH, Sisodiya S.

Epilepsia. 2017 May;58(5):893-900. doi: 10.1111/epi.13729. Epub 2017 Apr 3.

13.

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover.

de la Fuente C, Burke DG, Eaton S, Heales SJR.

Neurochem Int. 2017 Oct;109:94-100. doi: 10.1016/j.neuint.2017.02.013. Epub 2017 Feb 24.

PMID:
28242245
14.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Erratum in: Nat Genet. 2017 May 26;49(6):969.

PMID:
27992417
15.

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.

Kanabus M, Fassone E, Hughes SD, Bilooei SF, Rutherford T, Donnell MO, Heales SJR, Rahman S.

J Inherit Metab Dis. 2016 May;39(3):415-426. doi: 10.1007/s10545-016-9930-4. Epub 2016 Apr 14.

16.

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.

Montioli R, Paiardini A, Kurian MA, Dindo M, Rossignoli G, Heales SJR, Pope S, Voltattorni CB, Bertoldi M.

Biochim Biophys Acta. 2016 Jun;1864(6):676-682. doi: 10.1016/j.bbapap.2016.03.011. Epub 2016 Mar 17.

PMID:
26994895
17.

Drug-Induced Mitochondrial Toxicity.

Hargreaves IP, Al Shahrani M, Wainwright L, Heales SJ.

Drug Saf. 2016 Jul;39(7):661-74. doi: 10.1007/s40264-016-0417-x. Review.

PMID:
26992920
18.

Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Ng J, Papandreou A, Heales SJ, Kurian MA.

Nat Rev Neurol. 2015 Oct;11(10):567-84. doi: 10.1038/nrneurol.2015.172. Epub 2015 Sep 22. Review.

PMID:
26392380
19.

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

Bowron A, Honeychurch J, Williams M, Tsai-Goodman B, Clayton N, Jones L, Shortland GJ, Qureshi SA, Heales SJ, Steward CG.

J Inherit Metab Dis. 2016 Jan;39(1):151. doi: 10.1007/s10545-015-9891-z. No abstract available.

20.

Biochemical diagnosis of coenzyme q10 deficiency.

Yubero D, Montero R, Artuch R, Land JM, Heales SJ, Hargreaves IP.

Mol Syndromol. 2014 Jul;5(3-4):147-55. doi: 10.1159/000362390.

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