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Items: 37

1.

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.

Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J.

Neurol Genet. 2018 Aug 2;4(4):e258. doi: 10.1212/NXG.0000000000000258. eCollection 2018 Aug. No abstract available.

2.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

3.

Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy.

Blesneac I, Themistocleous AC, Fratter C, Conrad LJ, Ramirez JD, Cox JJ, Tesfaye S, Shillo PR, Rice ASC, Tucker SJ, Bennett DLH.

Pain. 2018 Mar;159(3):469-480. doi: 10.1097/j.pain.0000000000001116.

4.

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.

Morovat A, Weerasinghe G, Nesbitt V, Hofer M, Agnew T, Quaghebeur G, Sergeant K, Fratter C, Guha N, Mirzazadeh M, Poulton J.

J Clin Med. 2017 Aug 21;6(8). pii: E80. doi: 10.3390/jcm6080080.

5.

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.

Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM.

Br J Ophthalmol. 2017 Sep;101(9):1298-1302. doi: 10.1136/bjophthalmol-2017-310370. Epub 2017 Jul 20.

6.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS.

Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun.

7.

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S.

Genet Med. 2017 Nov;19(11):1217-1225. doi: 10.1038/gim.2017.35. Epub 2017 Apr 27.

PMID:
28471437
8.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

9.

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Ng YS, Hardy SA, Shrier V, Quaghebeur G, Mole DR, Daniels MJ, Downes SM, Freebody J, Fratter C, Hofer M, Nemeth AH, Poulton J, Taylor RW.

Neuromuscul Disord. 2016 Oct;26(10):702-705. doi: 10.1016/j.nmd.2016.08.009. Epub 2016 Aug 17.

10.

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

McKiernan P, Ball S, Santra S, Foster K, Fratter C, Poulton J, Craig K, McFarland R, Rahman S, Hargreaves I, Gupte G, Sharif K, Taylor RW.

J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):592-597.

11.

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness.

Kullar P, Alston CL, Ball S, Blakely EL, Differ AM, Fratter C, Sweeney MG, Taylor RW, Chinnery PF.

Hearing Balance Commun. 2016;14(2):101-102. Epub 2016 May 20. No abstract available.

12.

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J.

Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. No abstract available.

13.

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S.

PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.

14.

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

Diot A, Hinks-Roberts A, Lodge T, Liao C, Dombi E, Morten K, Brady S, Fratter C, Carver J, Muir R, Davis R, Green CJ, Johnston I, Hilton-Jones D, Sue C, Mortiboys H, Poulton J.

Pharmacol Res. 2015 Oct;100:24-35. doi: 10.1016/j.phrs.2015.07.014. Epub 2015 Jul 18.

PMID:
26196248
15.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S.

J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29.

16.

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM.

Brain. 2014 Dec;137(Pt 12):3200-12. doi: 10.1093/brain/awu279. Epub 2014 Oct 3.

17.

A national perspective on prenatal testing for mitochondrial disease.

Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R.

Eur J Hum Genet. 2014 Nov;22(11):1255-9. doi: 10.1038/ejhg.2014.35. Epub 2014 Mar 19.

18.

Unexplained gastrointestinal symptoms: think mitochondrial disease.

Chapman TP, Hadley G, Fratter C, Cullen SN, Bax BE, Bain MD, Sapsford RA, Poulton J, Travis SP.

Dig Liver Dis. 2014 Jan;46(1):1-8. doi: 10.1016/j.dld.2013.04.008. Epub 2013 Jun 13.

19.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J.

Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29.

20.

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

Uusimaa J, Gowda V, McShane A, Smith C, Evans J, Shrier A, Narasimhan M, O'Rourke A, Rajabally Y, Hedderly T, Cowan F, Fratter C, Poulton J.

Epilepsia. 2013 Jun;54(6):1002-11. doi: 10.1111/epi.12115. Epub 2013 Feb 28.

21.

Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation.

Pasmatzi E, Monastirli A, Chroni E, Georgiou S, Habeos J, Stefanou EG, Fratter C, Papathanasopoulos P, Tsambaos D.

QJM. 2015 Jun;108(6):503-5. doi: 10.1093/qjmed/hcs212. Epub 2012 Nov 11. No abstract available.

PMID:
23142763
22.

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

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS.

Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.

23.

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

Pitceathly RD, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Morrow JM, Evans J, Smith C, Fratter C, Woodward CE, Sweeney MG, Rahman S, Hanna MG.

J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):107-10. doi: 10.1136/jnnp-2012-303232. Epub 2012 Aug 29.

PMID:
22933815
24.

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV.

Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14.

PMID:
22422767
25.

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J.

J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995.

26.

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.

Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW.

Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. No abstract available.

27.

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S.

J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4.

PMID:
21378381
28.

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.

Anand G, Maheshwari N, Roberts D, Padeniya A, Hamilton-Ayers M, van der Knaap M, Fratter C, Jayawant S.

Dev Med Child Neurol. 2010 Jul;52(7):677-9. doi: 10.1111/j.1469-8749.2010.03674.x. Epub 2010 May 14.

29.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW.

Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f.

30.

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV.

J Clin Endocrinol Metab. 2010 Jul;95(7):3512-6. doi: 10.1210/jc.2009-2532. Epub 2010 May 12.

PMID:
20463099
31.

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.

Marchington D, Malik S, Banerjee A, Turner K, Samuels D, Macaulay V, Oakeshott P, Fratter C, Kennedy S, Poulton J.

J Med Genet. 2010 Apr;47(4):257-61. doi: 10.1136/jmg.2009.072900. Epub 2009 Nov 12.

PMID:
19914907
32.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C.

Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Review.

33.

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J.

Hum Mol Genet. 2008 Aug 15;17(16):2496-506. doi: 10.1093/hmg/ddn150. Epub 2008 May 16. Erratum in: Hum Mol Genet. 2009 Dec 15;18(24):4905-6.

34.

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV.

Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8.

PMID:
18084346
35.

Catastrophic visual loss in a patient with Friedreich ataxia.

Porter N, Downes SM, Fratter C, Anslow P, Németh AH.

Arch Ophthalmol. 2007 Feb;125(2):273-4. No abstract available.

PMID:
17296906
36.

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceição Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV.

Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306.

PMID:
16487440
37.

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NC.

Genet Test. 2005 Fall;9(3):190-9.

PMID:
16225398

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