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Results: 1 to 20 of 96

1.

Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy.

Soysal A, Yüksel B, Czermin B, Aydemir S, Tuğcu B, Aysal F, Arpaci B.

Muscle Nerve. 2013 Feb;47(2):308-9. doi: 10.1002/mus.23641. No abstract available.

PMID:
23349087
[PubMed - indexed for MEDLINE]
2.

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

Nochez Y, Arsene S, Gueguen N, Chevrollier A, Ferré M, Guillet V, Desquiret V, Toutain A, Bonneau D, Procaccio V, Amati-Bonneau P, Pisella PJ, Reynier P.

Mol Vis. 2009;15:598-608. Epub 2009 Mar 27.

PMID:
19325939
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Proximal myotonic dystrophy associated with parkinsonism.

Celik Y, Turgut N, Balci K, Kabayel L.

J Clin Neurosci. 2006 Feb;13(2):275-6. Epub 2006 Feb 3.

PMID:
16459082
[PubMed - indexed for MEDLINE]
4.

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

Milone M, Younge BR, Wang J, Zhang S, Wong LJ.

Mitochondrion. 2009 Jul;9(4):279-81. doi: 10.1016/j.mito.2009.03.001. Epub 2009 Mar 20.

PMID:
19303950
[PubMed - indexed for MEDLINE]
5.

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.

Grönlund MA, Honarvar AK, Andersson S, Moslemi AR, Oldfors A, Holme E, Tulinius M, Darin N.

Br J Ophthalmol. 2010 Jan;94(1):121-7. doi: 10.1136/bjo.2008.154187.

PMID:
20385529
[PubMed - indexed for MEDLINE]
6.

Clinically probable multiple system atrophy with predominant parkinsonism associated with myotonic dystrophy type 2.

Lim SY, Wadia P, Wenning GK, Lang AE.

Mov Disord. 2009 Jul 15;24(9):1407-9. doi: 10.1002/mds.22625. No abstract available.

PMID:
19441131
[PubMed - indexed for MEDLINE]
7.

[Camptocornia presenting with a proximal myotonic myopathy].

Rimbaux S, Pellieux S, Bergemer AM, Saïkali I, Gherardi R, Fouquet B.

Rev Neurol (Paris). 2003 Jul;159(6-7 Pt 1):678-80. French.

PMID:
12910078
[PubMed - indexed for MEDLINE]
8.

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Nakamura M, Lin J, Ueno S, Asaoka R, Hirai T, Hotta Y, Miyake Y, Terasaki H.

Ophthalmology. 2006 Mar;113(3):483-488.e1.

PMID:
16513463
[PubMed - indexed for MEDLINE]
9.

Bilateral optic nerve atrophy in myotonic dystrophy.

Gamez J, Montane D, Martorell L, Minoves T, Cervera C.

Am J Ophthalmol. 2001 Mar;131(3):398-400.

PMID:
11239886
[PubMed - indexed for MEDLINE]
10.

Behçet's disease: an unusual case with bilateral obliterating retinal panarteritis and ischemic optic atrophy.

Cotticelli L, Apponi-Battini G, Federico A, Cotrufo R, Annunziata P, Di Iorio G.

Ophthalmologica. 1980;180(6):328-32.

PMID:
7443198
[PubMed - indexed for MEDLINE]
11.

[A case of familial mitochondrial myopathy associated with peripheral neuropathy and optic atrophy].

Watanabe M, Mizusawa H, Kanazawa I, Nakanisi T.

Rinsho Shinkeigaku. 1987 Sep;27(9):1163-6. Japanese. No abstract available.

PMID:
2831006
[PubMed - indexed for MEDLINE]
12.

A patient with proximal myotonic myopathy and parkinsonism.

Chu K, Cho JW, Song EC, Jeon BS.

Can J Neurol Sci. 2002 May;29(2):188-90.

PMID:
12035844
[PubMed - indexed for MEDLINE]
13.

[A case of endocraniosis with endocrine changes in the female genitals and monolateral optic atrophy caused by stenosis of the optic canal].

Frezzotti R, Carretti N, Filippone C.

Riv Otoneurooftalmol. 1967 Nov-Dec;42(6):483-91. Italian. No abstract available.

PMID:
5616252
[PubMed - indexed for MEDLINE]
14.

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D.

Brain. 2004 Sep;127(Pt 9):1979-92. Epub 2004 Jun 23.

PMID:
15215218
[PubMed - indexed for MEDLINE]
Free Article
15.

[Optic nerve atrophy--the main cause of visual impairment in children and young adults].

Kepa B, Hautz W, Seroczyńska M, Adach K.

Med Wieku Rozwoj. 2007 Apr-Jun;11(2 Pt 2):217-20. Polish.

PMID:
17965471
[PubMed - indexed for MEDLINE]
16.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N, Fragaki K, Cano A, Pouget J, Pellissier JF, Procaccio V, Chabrol B, Paquis-Flucklinger V.

Brain. 2012 Jan;135(Pt 1):23-34. doi: 10.1093/brain/awr323. Epub 2011 Dec 20.

PMID:
22189565
[PubMed - indexed for MEDLINE]
Free Article
17.

[The heredo-degenerations of the optic nerve and their associations with systemic neurologic diseases. Complicated infantile optic atrophy (Behr's disease)].

Franceschetti A.

J Genet Hum. 1966 Dec;15(3):322-31. French. No abstract available.

PMID:
5987543
[PubMed - indexed for MEDLINE]
18.

Optic atrophy in familial dysautonomia.

Rizzo JF 3rd, Lessell S, Liebman SD.

Am J Ophthalmol. 1986 Oct 15;102(4):463-7.

PMID:
3766661
[PubMed - indexed for MEDLINE]
19.

Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association?

Sicurelli F, Mignarri A, Cardani R, Mondelli M, Carluccio A, Marino D, Meola G, Federico A, Dotti MT.

Neurol Sci. 2011 Dec;32(6):1249-50. doi: 10.1007/s10072-011-0782-2. Epub 2011 Sep 24. No abstract available.

PMID:
21948056
[PubMed - indexed for MEDLINE]
20.

Optic atrophy in association with cobalamin C (cblC) disease.

Patton N, Beatty S, Lloyd IC, Wraith JE.

Ophthalmic Genet. 2000 Sep;21(3):151-4.

PMID:
11035547
[PubMed - indexed for MEDLINE]

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