Dominant Optic Atrophy in a Japanese Family with Opa1 Frameshift Mutation (V942fsX966)

2007 ◽  
Vol 17 (2) ◽  
pp. 253-258
Author(s):  
T. Hayashi ◽  
T. Takeuchi ◽  
T. Gekka ◽  
K. Kitahara
Keyword(s):  
Optic Atrophy ◽  
Frameshift Mutation ◽  
Japanese Family ◽  
Dominant Optic Atrophy

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

2001 ◽  
Vol 109 (5) ◽  
pp. 498-502 ◽  
Author(s):  
Dawn Thiselton ◽  
Christiane Alexander ◽  
Simon Brooks ◽  
Thomas Rosenberg ◽  
Hans Eiberg ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Founder Effect ◽  
Frameshift Mutation ◽  
Danish Population ◽  
Dominant Optic Atrophy ◽  
High Prevalence ◽  
Opa1 Gene

scholarly journals Loss of functional OPA 1 unbalances redox state: implications in dominant optic atrophy pathogenesis

2016 ◽  
Vol 3 (6) ◽  
pp. 408-421 ◽  
Author(s):  
Aurélie M. C. Millet ◽  
Ambre M. Bertholet ◽  
Marlène Daloyau ◽  
Pascal Reynier ◽  
Anne Galinier ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Redox State ◽  
Dominant Optic Atrophy

Dominant optic atrophy

2016 ◽  
Vol 27 (6) ◽  
pp. 475-480 ◽  
Author(s):  
Bo Y. Chun ◽  
Joseph F. Rizzo
Keyword(s):  
Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

Cell Calcium ◽  
2015 ◽  
Vol 57 (1) ◽  
pp. 49-55 ◽  
Author(s):  
László Fülöp ◽  
Anikó Rajki ◽  
Erika Maka ◽  
Mária Judit Molnár ◽  
András Spät
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

Dominant optic atrophy and sensorineural hearing loss

1991 ◽  
Vol 11 (5) ◽  
pp. 237-240
Author(s):  
M. P. Waterschoot ◽  
J. M. Guerit ◽  
M. Gersdorff ◽  
E. C. Laterre
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Optic Atrophy ◽  
Sensorineural Hearing ◽  
Dominant Optic Atrophy

scholarly journals OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

2012 ◽  
Vol 68 (2) ◽  
pp. 108-110 ◽  
Author(s):  
X. Ayrignac ◽  
C. Liauzun ◽  
G. Lenaers ◽  
D. Renard ◽  
P. Amati-Bonneau ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Novel pathophysiological mechanisms in dominant optic atrophy beyond the mitochondrial dynamics equilibrium

2017 ◽  
Vol 95 ◽  
Author(s):  
G. Lenaers ◽  
M. Charif ◽  
P. Amati-Bonneau ◽  
J. Chao de la Barca ◽  
V. Procaccio ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Mitochondrial Dynamics ◽  
Pathophysiological Mechanisms ◽  
Dominant Optic Atrophy

scholarly journals Autosomal dominant optic atrophy: A novel treatment of OPA1 splice defects by U1 snRNA adaption

2021 ◽  
Author(s):  
Christoph Jüschke ◽  
Thomas Klopstock ◽  
Claudia B. Catarino ◽  
Marta Owczarek-Lipska ◽  
Bernd Wissinger ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Novel Treatment ◽  
U1 Snrna
Sign in / Sign up

Export Citation Format

Share Document