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Optic Atrophy, Hereditary, Leber
Known as:
Leber's optic atrophy
, Optic Neuroretinopathy, Hereditary
, Optic Atrophy, Leber, Hereditary
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A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The…
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National Institutes of Health
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Related topics
Related topics
18 relations
Ataxia
Eye
Genetic Heterogeneity
In Blood
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Broader (2)
Disorder of the optic nerve
Optic Atrophies, Hereditary
Narrower (1)
LEBER OPTIC ATROPHY AND DYSTONIA
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
epto-Optic Dysplasia omplex: A eterogeneous alformation yndrome
iero Pavone
,
P. Iannetti
,
uigi Manfré
,
artino Ruggieri
2005
Corpus ID: 6286110
epto-optic dysplasia is defined by a variable combiation of dysgenesis of midline brain structures includng optic nerve…
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Highly Cited
1997
Highly Cited
1997
mtDNA Haplotype Analysis in Finnish Families with Leber Hereditary Optic Neuroretinopathy
T. Lamminen
,
K. Huoponen
,
+5 authors
M. Savontaus
European Journal of Human Genetics
1997
Corpus ID: 19963028
The mitochondrial DNA (mtDNA) sequence variation of 24 Finnish Leber hereditary optic neuroretinopathy (LHON) probands was…
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Highly Cited
1996
Highly Cited
1996
Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement
U. Mayr‐Wohlfart
,
C. Paulus
,
A. Henneberg
,
G. Rödel
Acta Neurologica Scandinavica
1996
Corpus ID: 11123359
Introduction – Preferential maternal transmission in familial cases and the occasional association of multiple sclerosis (MS) and…
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Review
1994
Review
1994
A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.
N. Howell
,
M. Xu
,
S. Halvorson
,
I. Bodis-Wollner
,
J. Sherman
American Journal of Human Genetics
1994
Corpus ID: 41223820
To the Editor: Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disorder that typically involves an acute or…
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1993
1993
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
V. Juvonen
,
J. Vilkki
,
P. Aula
,
E. Nikoskelainen
,
M. Savontaus
American Journal of Human Genetics
1993
Corpus ID: 35631564
One of the commonest reasons for sudden-onset optic nerve degeneration in young men can be attributed to maternally inherited…
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Highly Cited
1992
Highly Cited
1992
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.
M. Sweeney
,
M. Davis
,
A. Lashwood
,
M. Brockington
,
A. Toscano
,
A. Harding
American Journal of Human Genetics
1992
Corpus ID: 39817919
Leber hereditary optic neuropathy (LHON) is associated with mutations of mtDNA, but two features of LHON pedigrees are not…
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Highly Cited
1989
Highly Cited
1989
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.
J. Vilkki
,
M. Savontaus
,
E. Nikoskelainen
American Journal of Human Genetics
1989
Corpus ID: 7409469
The presence or absence of a recently observed mitochondrial DNA (mtDNA) mutation associated with Leber hereditary optic…
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Highly Cited
1988
Highly Cited
1988
Reinvestigation of the role of the optic vesicle in embryonic lens induction.
R. Grainger
,
J. Herry
,
R. Henderson
Development
1988
Corpus ID: 10781892
The induction of the lens by the optic vesicle in amphibians is often cited as support for the view that a single inductive event…
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Highly Cited
1964
Highly Cited
1964
A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.
G. Bruyn
,
L. Went
Journal of Neurological Sciences
1964
Corpus ID: 11816810
Highly Cited
1935
Highly Cited
1935
Der Stoffwechsel des isolierten Fettgewebes
H. Ruska
,
A. Quast
Naunyn-Schmiedebergs Archiv für Experimentelle…
1935
Corpus ID: 46698439
ZusammenfassungEs wird versucht, in der großen Variabilität der Fettgewebsatmung gewisse Gesetzmäßigkeiten zu finden. Dabei zeigt…
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