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Items: 1 to 20 of 89

1.

Voiding dysfunction in a mother and daughter with mitochondrial cytopathy.

Safir MH, Gousse AE, Cederbaum SD, Raz S.

J Urol. 1998 Sep;160(3 Pt 1):830. No abstract available.

PMID:
9720561
2.

Retinopathy of NARP syndrome.

Kerrison JB, Biousse V, Newman NJ.

Arch Ophthalmol. 2000 Feb;118(2):298-9. No abstract available.

PMID:
10676807
3.

[NARP syndrome--a less known mitochondrial disease].

Kuusisto H, Simola KO, Keränen T.

Duodecim. 2003;119(16):1563-6. Finnish. No abstract available.

PMID:
14535029
4.

[NARP (neurogenic muscle weakness, ataxia and retinitis pigmentosa)].

Goto Y.

Ryoikibetsu Shokogun Shirizu. 2001;(36):164-5. Review. Japanese. No abstract available.

PMID:
11596355
5.

[A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA].

Mitani M, Jinnai K, Takahashi K, Koide R, Tsuji S.

Rinsho Shinkeigaku. 2000 Jun;40(6):600-4. Japanese.

PMID:
11086401
6.

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

Porto FB, Mack G, Sterboul MJ, Lewin P, Flament J, Sahel J, Dollfus H.

Am J Ophthalmol. 2001 Dec;132(6):935-7.

PMID:
11730668
7.

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Claeys KG, Abicht A, Häusler M, Kleinle S, Wiesmann M, Schulz JB, Horvath R, Weis J.

Muscle Nerve. 2016 Aug;54(2):328-33. doi: 10.1002/mus.25125.

PMID:
27015314
8.

The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation.

Gray RG, Davies PA, Marshall A, Heath SK.

J Med Genet. 2002 Mar;39(3):204-5. No abstract available.

10.

Heterogeneous patterns of tissue injury in NARP syndrome.

Gelfand JM, Duncan JL, Racine CA, Gillum LA, Chin CT, Zhang Y, Zhang Q, Wong LJ, Roorda A, Green AJ.

J Neurol. 2011 Mar;258(3):440-8. doi: 10.1007/s00415-010-5775-1. Epub 2010 Oct 16.

11.

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.

Gene. 2013 Feb 25;515(2):372-5. doi: 10.1016/j.gene.2012.12.066. Epub 2012 Dec 20.

PMID:
23266623
12.

[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].

Miyawaki T, Koto S, Ishihara H, Goto Y, Nishino I, Kanda F, Toda T.

Rinsho Shinkeigaku. 2015;55(2):91-5. doi: 10.5692/clinicalneurol.55.91. Japanese.

PMID:
25746071
13.

High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.

Tsao CY, Mendell JR, Bartholomew D.

J Child Neurol. 2001 Jul;16(7):533-5.

PMID:
11453454
14.

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.

Carelli V, Baracca A, Barogi S, Pallotti F, Valentino ML, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A, Solaini G.

Arch Neurol. 2002 Feb;59(2):264-70.

PMID:
11843698
15.

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.

Puddu P, Barboni P, Mantovani V, Montagna P, Cerullo A, Bragliani M, Molinotti C, Caramazza R.

Br J Ophthalmol. 1993 Feb;77(2):84-8.

16.
17.

[Hallgren's syndrome in one family: retinitis pigmentosa, congenital deafness and ataxia].

Urquidi GA, Topaz AM.

Acta Neurol Latinoam. 1979;25(1-2):75-9. Spanish.

PMID:
583386
18.

Autosomal recessive posterior column ataxia and retinitis pigmentosa.

Berciano J, Polo JM.

Neurology. 1998 Dec;51(6):1772-3. No abstract available.

PMID:
9855554
19.

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.

Criscuolo C, Guacci A, Carbone R, Lieto M, Salsano E, Nanetti L, Michele GD, Filla A.

Eur J Neurol. 2013 Apr;20(4):e60. doi: 10.1111/ene.12056. No abstract available.

PMID:
23490117
20.

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.

Kara B, Arıkan M, Maraş H, Abacı N, Cakıris A, Ustek D.

Mol Genet Metab. 2012 Nov;107(3):389-93. doi: 10.1016/j.ymgme.2012.06.013. Epub 2012 Jul 10.

PMID:
22819295

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