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Literaturverzeichnis
deutschsprachige Literatur
zur Leberschen Optikusneuropathie
- Christ-Adler M, Leo-Kottler
B, Wissinger B. Lebersche hereditäre Optikusneuropathie.
In: Huber A, Kömpf D (Hrsg) Klinische
Neuroophthalmologie. Thieme Stuttgart 1998, 271-273.
- Leber T. Über
hereditäre und kongenital angelegte Sehnervenleiden.
Graefes Arch Ophthalmol 1871;17:249-91.
- Leo-Kottler B,
Christ-Adler M, Reck B, Wissinger B, Zrenner E.
Korrelation klinischer und molekulargenetischer Befunde
bei Leberscher Optikusneuropathie (LHON). Der
Ophthalmologe 1995; 92:86-92.
englischsprachige Literatur
zur Leberschen Optikusneuropathie
- Black GCM, Morten K,
Laborde A, Poulton J. Leber`s hereditary optic neuropathy:
heteroplasmy is likely to be significant in the
expression of LHON in families with the 3460 ND1 mutation.
Br J Ophthalmol 1996;80:915-7.
- Brown MD, Wallace
DC. Spectrum of mitochondrial DNA mutations in Leber`s
hereditary optic neuropathy. Clin Neurosci 1994;2:138-45.
- Cullom ME, Heher KL,
Miller NR, Savino PJ, Johns DR. Leber`s hereditary optic
neuropathy masquerading as tobacco-alcohol amblyopia.
Arch Ophthalmol 1993;111:1482-85.
- Flanigan KM, Johns
DR. Association of the 11778 mutation and demyelinating
disease. Neurology 1993;43:2720-2.
- Harding AE, Sweeney
MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, et al.
Occurence of a multiple sclerosis-like illness in women
who have a Leber`s hereditary optic neuropathy
mitochondrial DNA mutation. Brain 1992;115:979-89.
- Harding AE, Sweeney
MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber
hereditary optic neuropathy. Families with a pathogenic
mtDNA mutation. Am J Hum Genet 1995;57:77-86.
- Howell N,. Primary
LHON mutations: trying to separate "fruyt" from
"chaff". Clin Neurosci 1994;2:130-37.
- Howell N, Halvorson
S, Burns J, et al. When does bilateral optic atrophy
become Leber hereditary optic neuropathy (letter)? Am J
Hum Genet 1993;53:959-63.
- Johns DR, Smith KH,
Miller NR. Leber`s hereditary optic neuropathy. Clinical
manifestations of the 3460 mutation. Arch Ophthalmol 1992;110:1577-81.
- Johns DR, Heher KL,
Miller NR,Smith KH. Leber`s hereditary optic neuropathy.
Clinical manifestations of the 14484 mutation. Arch
Opthalmol 1993;111:495-8.
- Johns DR, Smith KH,
Savino, PJ, Miller NR. Leber`s here-ditary optic
neuropathy. Clinical manifestations of the 15257 mutation.
Ophthalmology 1993b;100:981-6.
- Jun AS, Brown MD,
Wallace DC. A mitochondrial DNA mutation at nucleotide
pair 14459 of the NADH dehydrogenase subunit 6 gene
associated with maternally inherited Leber hereditary
optic neuropathy and dystonia. Proc Natl Acad Sci USA
1994;91:6206-10.
- Kellar-Wood H,
Robertson N, Govan GG, Compston DAS, Harding AE. Leber`s
hereditary optic neuropathy mitochondrial DNA mutations
in multiple sclerosis. Ann Neurol 1994;36:109-12.
- Lamminen T,
Majander A, Juvonen V, et al. A mitochondrial mutation at
nt 9101 in the ATP synthase 6 gene associated with
deficient oxidative phosphorylation in a family with
Leber hereditary optic neuropathy. Am J Hum Genet 1995;56:1238-40.
- Leo-Kottler B,
Christ-Adler M, Baumann B, Zrenner E, Wissinger B. Leber`s
hereditary optic neuropathy: clinical and molecular
results obtained in a family with a new point mutation at
nucleotide position 14498 in the ND6 gene. German J
Ophthalmol 1996;5:233-40.
- Newman NJ, Lott MT,
Wallace DC. The clinical characteristics of pedigrees of
Leber`s hereditary optic neuropathy with the 11778
mutation. Am J Opthalmol 1991;111:750-62.
- Newman NJ. Leber`s
hereditary optic neuropathy. New genetic considerations.
Arch Neurol 1993;50:540-8.
- Nikoskelainen EK,
Hoyt WF, Nummelin K. Opthalmoskopic findings in Leber`s
hereditary optic neuropathy. I. Fundus findings in
asymptomatic family members. Arch Ophthalmol 1982;100:1597-602.
- Nikoskelainen EK,
Hoyt WF, Nummelin K. Opthalmoskopic findings in Leber`s
hereditary optic neuropathy. II. Fundus findings in the
affected family members. Arch Ophthalmol 1983;101:1059-68.
- Nikoskelainen EK.
Clinical picture of LHON. Clin Neurosci 1994;2:115-120.
- Nikoskelainen EK,
Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen
P, Savontaus ML. Leber`s "plus": neurological
abnormalities in patients with Leber`s hereditary optic
neuropathy. J Neurol Neurosurg Psychiatry 1995;59(2):160-4.
- Nikoskelainen EK,
Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus
ML. Ophthalmologic findings in Leber hereditary optic
neuropathy, with special reference to mtDNA mutations.
Opthalmology 1996;103.504-14.
- Oostra RJ, Bolhuis
PA, Wijburg FA, et al. Leber`s hereditary optic
neuropathy: correlations between mitochondrial genotype
and visual outcome. J Med Genet 1994;31:280-6.
- Riordan-Eva P,
Sanders MD, Govan GG, et al. The clinical features of
Leber hereditary optic neuropathy defined by the presence
of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319-37.
- Stone EM, Newman NJ,
Miller NR, et al. Visual recovery in patients with Leber`s
hereditary optic neuropathy and the 11778 mutation. J
Clin Neuro-Ophthalmol 1992;12:10-4.
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