scholarly journals A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy

Brain ◽  
2006 ◽  
Vol 130 (4) ◽  
pp. 1029-1042 ◽  
Author(s):  
M. V. Alavi ◽  
S. Bette ◽  
S. Schimpf ◽  
F. Schuettauf ◽  
U. Schraermeyer ◽  
...  
Keyword(s):  
Splice Site ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

2003 ◽  
Vol 136 (6) ◽  
pp. 1170-1171 ◽  
Author(s):  
Patrizia Amati-Bonneau ◽  
Sylvie Odent ◽  
Christelle Derrien ◽  
Laurent Pasquier ◽  
Yves Malthiéry ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

Detection of a novel premature stop codon in the OPA1 gene in autosomal dominant optic atrophy

2012 ◽  
Vol 90 ◽  
pp. 0-0 ◽  
Author(s):  
M OLDAK ◽  
A FEDEROWICZ ◽  
K SZULBORSKI ◽  
J WIERZBOWSKA ◽  
J KOSINSKA ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

Dominant Optic Atrophy Caused by a Novel OPA1 Splice Site Mutation (IVS20+1G→A) Associated with Intron Retention

2005 ◽  
Vol 37 (4) ◽  
pp. 214-224 ◽  
Author(s):  
Takaaki Hayashi ◽  
Tamaki Gekka ◽  
Satoshi Omoto ◽  
Tomokazu Takeuchi ◽  
Kenji Kitahara
Keyword(s):  
Splice Site ◽  
Optic Atrophy ◽  
Intron Retention ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Dominant Optic Atrophy

scholarly journals Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

2015 ◽  
Vol 133 (5) ◽  
pp. 511 ◽  
Author(s):  
Suma P. Shankar ◽  
David G. Birch ◽  
Richard S. Ruiz ◽  
Dianna K. Hughbanks-Wheaton ◽  
Lori S. Sullivan ◽  
...  
Keyword(s):  
Splice Site ◽  
Founder Effect ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Retinal Dystrophies

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
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