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Items: 1 to 20 of 136

1.

Angiopoietins in Diabetic Retinopathy: Current Understanding and Therapeutic Potential.

Whitehead M, Osborne A, Widdowson PS, Yu-Wai-Man P, Martin KR.

J Diabetes Res. 2019 Aug 14;2019:5140521. doi: 10.1155/2019/5140521. eCollection 2019. Review.

2.

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 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31.

PMID:
31298765
3.

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. Review.

PMID:
30516647
4.

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.

5.

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
6.

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.

7.

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
8.

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
9.

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
10.

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
11.

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.

12.

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.

13.

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
14.

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.

15.

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
16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

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