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Items: 1 to 50 of 135

1.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M.

Ann Neurol. 2019 Jul 12. doi: 10.1002/ana.25550. [Epub ahead of print]

PMID:
31298765
2.

Treatment strategies for Leber hereditary optic neuropathy.

Jurkute N, Harvey J, Yu-Wai-Man P.

Curr Opin Neurol. 2019 Feb;32(1):99-104. doi: 10.1097/WCO.0000000000000646.

PMID:
30516647
3.

Monoamine oxidase-A promotes protective autophagy in human SH-SY5Y neuroblastoma cells through Bcl-2 phosphorylation.

Ugun-Klusek A, Theodosi TS, Fitzgerald JC, Burté F, Ufer C, Boocock DJ, Yu-Wai-Man P, Bedford L, Billett EE.

Redox Biol. 2019 Jan;20:167-181. doi: 10.1016/j.redox.2018.10.003. Epub 2018 Oct 9.

4.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. No abstract available.

PMID:
30143805
5.

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V.

Sci Rep. 2018 Aug 3;8(1):11682. doi: 10.1038/s41598-018-30143-z.

6.

Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel?

Kim US, Jurkute N, Yu-Wai-Man P.

Asia Pac J Ophthalmol (Phila). 2018 Jul-Aug;7(4):242-245. doi: 10.22608/APO.2018293. Epub 2018 Jul 15. Review.

PMID:
30008192
7.

Management of ophthalmologic manifestations of mitochondrial diseases.

Newman NJ, Yu-Wai-Man P, Sadun AA, Karanjia R, Carelli V.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.171. Epub 2017 Oct 26. No abstract available.

PMID:
29215643
8.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P.

J Neuroophthalmol. 2017 Dec;37(4):371-381. doi: 10.1097/WNO.0000000000000570.

PMID:
28991104
9.

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants.

J Inherit Metab Dis. 2018 Jan;41(1):151. doi: 10.1007/s10545-017-0081-z. No abstract available.

PMID:
28980269
10.

Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation.

Chichagova V, Hallam D, Collin J, Buskin A, Saretzki G, Armstrong L, Yu-Wai-Man P, Lako M, Steel DH.

Sci Rep. 2017 Sep 26;7(1):12320. doi: 10.1038/s41598-017-12396-2.

11.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Majander A, Robson AG, João C, Holder GE, Chinnery PF, Moore AT, Votruba M, Stockman A, Yu-Wai-Man P.

Mitochondrion. 2017 Sep;36:138-149. doi: 10.1016/j.mito.2017.07.006. Epub 2017 Jul 18.

12.

Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Poulton J, Finsterer J, Yu-Wai-Man P.

Mol Diagn Ther. 2017 Aug;21(4):465-466. doi: 10.1007/s40291-017-0286-8. No abstract available.

PMID:
28676952
13.

Leber hereditary optic neuropathy: bridging the translational gap.

Jurkute N, Yu-Wai-Man P.

Curr Opin Ophthalmol. 2017 Sep;28(5):403-409. doi: 10.1097/ICU.0000000000000410. Review.

14.

Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Poulton J, Finsterer J, Yu-Wai-Man P.

Mol Diagn Ther. 2017 Aug;21(4):419-429. doi: 10.1007/s40291-017-0279-7. Review. Erratum in: Mol Diagn Ther. 2017 Jul 4;:.

PMID:
28536827
15.

Inherited eye-related disorders due to mitochondrial dysfunction.

Yu-Wai-Man P, Newman NJ.

Hum Mol Genet. 2017 Aug 1;26(R1):R12-R20. doi: 10.1093/hmg/ddx182. Review.

16.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V.

Hum Mol Genet. 2017 May 1;26(9):1786. doi: 10.1093/hmg/ddx130. No abstract available.

17.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG.

Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1.

18.

metabolic profiling of Parkinson's disease and mild cognitive impairment.

Burté F, Houghton D, Lowes H, Pyle A, Nesbitt S, Yarnall A, Yu-Wai-Man P, Burn DJ, Santibanez-Koref M, Hudson G.

Mov Disord. 2017 Jun;32(6):927-932. doi: 10.1002/mds.26992. Epub 2017 Apr 10.

19.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V.

Hum Mol Genet. 2017 May 1;26(9):1599-1611. doi: 10.1093/hmg/ddx060. Erratum in: Hum Mol Genet. 2017 May 1;26(9):1786.

20.

Childhood-onset Leber hereditary optic neuropathy.

Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P.

Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17.

21.

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:.

J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. Erratum in: J Inherit Metab Dis. 2017 Oct 4;:.

PMID:
28303425
22.

Harnessing the Power of Genetic Engineering for Patients With Mitochondrial Eye Diseases.

Yu-Wai-Man P.

J Neuroophthalmol. 2017 Mar;37(1):56-64. doi: 10.1097/WNO.0000000000000476. Review. No abstract available.

PMID:
28187082
23.

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Majander A, João C, Rider AT, Henning GB, Votruba M, Moore AT, Yu-Wai-Man P, Stockman A.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):502-516. doi: 10.1167/iovs.16-20309.

24.

Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy.

Yu-Wai-Man P, Soiferman D, Moore DG, Burté F, Saada A.

Mitochondrion. 2017 Sep;36:36-42. doi: 10.1016/j.mito.2017.01.004. Epub 2017 Jan 16.

25.

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.

26.

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

Bartsakoulia M, Mϋller JS, Gomez-Duran A, Yu-Wai-Man P, Boczonadi V, Horvath R.

J Neuromuscul Dis. 2016 Aug 30;3(3):363-379. Erratum in: J Neuromuscul Dis. 2017;4(1):97.

PMID:
27854233
27.

A neurodegenerative perspective on mitochondrial optic neuropathies.

Yu-Wai-Man P, Votruba M, Burté F, La Morgia C, Barboni P, Carelli V.

Acta Neuropathol. 2016 Dec;132(6):789-806. Epub 2016 Sep 30. Review.

28.

A multiple sclerosis-like disorder in patients with OPA1 mutations.

Yu-Wai-Man P, Spyropoulos A, Duncan HJ, Guadagno JV, Chinnery PF.

Ann Clin Transl Neurol. 2016 Jul 19;3(9):723-9. doi: 10.1002/acn3.323. eCollection 2016 Sep.

29.

Leber Hereditary Optic Neuropathy.

Yu-Wai-Man P, Chinnery PF.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 Oct 26 [updated 2016 Jun 23].

30.

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

Buret L, Rebillard G, Brun E, Angebault C, Pequignot M, Lenoir M, Do-Cruzeiro M, Tournier E, Cornille K, Saleur A, Gueguen N, Reynier P, Amati-Bonneau P, Barakat A, Blanchet C, Chinnery P, Yu-Wai-Man P, Kaplan J, Roux AF, Van Camp G, Wissinger B, Boespflug-Tanguy O, Giraudet F, Puel JL, Lenaers G, Hamel C, Delprat B, Delettre C.

Cell Death Discov. 2016 Mar 7;2:16017.

31.

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England.

Yu-Wai-Man P, Griffiths PG, Howell N, Turnbull DM, Chinnery PF.

Am J Hum Genet. 2016 Jun 2;98(6):1271. doi: 10.1016/j.ajhg.2016.05.015. Epub 2016 Jun 2. No abstract available.

32.

Clinical utility gene card for: Wolfram syndrome.

Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R.

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.49. Epub 2016 May 25. No abstract available.

33.

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.

34.

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.

Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr.

35.

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Kullar PJ, Quail J, Lindsey P, Wilson JA, Horvath R, Yu-Wai-Man P, Gorman GS, Taylor RW, Ng Y, McFarland R, Moore BC, Chinnery PF.

Brain. 2016 Jun;139(Pt 6):e33. doi: 10.1093/brain/aww051. Epub 2016 Mar 25. No abstract available.

36.

Genetic manipulation for inherited neurodegenerative diseases: myth or reality?

Yu-Wai-Man P.

Br J Ophthalmol. 2016 Oct;100(10):1322-31. doi: 10.1136/bjophthalmol-2015-308329. Epub 2016 Mar 21. Review.

37.

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

Majander A, Bitner-Glindzicz M, Chan CM, Duncan HJ, Chinnery PF, Subash M, Keane PA, Webster AR, Moore AT, Michaelides M, Yu-Wai-Man P.

Ophthalmology. 2016 Jul;123(7):1624-6. doi: 10.1016/j.ophtha.2016.01.007. Epub 2016 Feb 10. No abstract available.

38.

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.

Guthrie G, Pfeffer G, Bailie M, Bradshaw K, Browning AC, Horvath R, Chinnery PF, Yu-Wai-Man P.

J Neurol. 2016 Feb;263(2):419-420. doi: 10.1007/s00415-015-8008-9. No abstract available.

39.

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2016 Apr;139(Pt 4):e22. doi: 10.1093/brain/awv368. Epub 2015 Dec 30. No abstract available.

40.

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.

Genin EC, Plutino M, Bannwarth S, Villa E, Cisneros-Barroso E, Roy M, Ortega-Vila B, Fragaki K, Lespinasse F, Pinero-Martos E, Augé G, Moore D, Burté F, Lacas-Gervais S, Kageyama Y, Itoh K, Yu-Wai-Man P, Sesaki H, Ricci JE, Vives-Bauza C, Paquis-Flucklinger V.

EMBO Mol Med. 2016 Jan 1;8(1):58-72. doi: 10.15252/emmm.201505496.

41.

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Yu-Wai-Man P, Hudson G, Klopstock T, Chinnery PF.

Brain. 2016 Mar;139(Pt 3):e18. doi: 10.1093/brain/awv340. Epub 2015 Dec 10. No abstract available.

42.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G.

Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Erratum in: Am J Hum Genet. 2015 Nov 5;97(5):769.

43.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.

J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.

44.

Therapeutic Approaches to Inherited Optic Neuropathies.

Yu-Wai-Man P.

Semin Neurol. 2015 Oct;35(5):578-86. doi: 10.1055/s-0035-1563574. Epub 2015 Oct 6. Review.

PMID:
26444403
45.

Prevalence of neurogenetic disorders in the North of England.

Bargiela D, Yu-Wai-Man P, Keogh M, Horvath R, Chinnery PF.

Neurology. 2015 Oct 6;85(14):1195-201. doi: 10.1212/WNL.0000000000001995. Epub 2015 Sep 4. Review.

46.

Traumatic optic neuropathy-Clinical features and management issues.

Yu-Wai-Man P.

Taiwan J Ophthalmol. 2015 Mar 1;5(1):3-8.

47.

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 Oct;138(Pt 10):e386. doi: 10.1093/brain/awv116. Epub 2015 May 7. No abstract available.

PMID:
25953779
48.

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 Sep;138(Pt 9):e377. doi: 10.1093/brain/awv015. Epub 2015 Feb 12. No abstract available.

49.

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.

50.

Neuro-Ophthalmology in the United Kingdom.

Yu-Wai-Man P.

J Neuroophthalmol. 2015 Jun;35(2):e17-9. doi: 10.1097/WNO.0000000000000211. No abstract available.

PMID:
25634740

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