Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 131

1.

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.

2.

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 15. doi: 10.22608/APO.2018293. [Epub ahead of print]

3.

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
4.

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
5.

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
6.

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.

7.

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.

8.

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
9.

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.

10.

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
11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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
18.

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
19.

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.

20.

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.

Supplemental Content

Loading ...
Support Center