Faculty Opinions recommendation of Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

2009 ◽  
Author(s):  
Nereo Bresolin ◽  
Dario Ronchi
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Molecular Basis ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain ◽  
2009 ◽  
Vol 132 (11) ◽  
pp. 3165-3174 ◽  
Author(s):  
R. Horvath ◽  
J. P. Kemp ◽  
H. A. L. Tuppen ◽  
G. Hudson ◽  
A. Oldfors ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Molecular Basis ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals Mitochondrial cytochrome c oxidase deficiency

2016 ◽  
Vol 130 (6) ◽  
pp. 393-407 ◽  
Author(s):  
Malgorzata Rak ◽  
Paule Bénit ◽  
Dominique Chrétien ◽  
Juliette Bouchereau ◽  
Manuel Schiff ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome Oxidase ◽  
Cytochrome C Oxidase ◽  
Molecular Basis ◽  
Mitochondrial Cytochrome ◽  
Oxidase Deficiency ◽  
Efficient Treatment ◽  
Cytochrome C Oxidase Deficiency ◽  
Major Progress ◽  
Made In

Cytochrome oxidase defects are multiform diseases and despite major progress made in elucidating their molecular basis, we are still waiting for an efficient treatment. We discuss the cause of this discrepancy stressing the foremost questions that remain to be solved.

Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

2012 ◽  
Vol 22 ◽  
pp. S22
Author(s):  
V. Boczonadi ◽  
P.M. Smith ◽  
K. Sitarz ◽  
Z.M.A. Chrzanowska-Lightowlers ◽  
R.N. Lightowlers ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Molecular Basis ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

2010 ◽  
Vol 1797 ◽  
pp. 52
Author(s):  
Sylwia Łuczak ◽  
Dorota Piekutowska-Abramczuk ◽  
Paweł Kowalski ◽  
Elżbieta Ciara ◽  
Dorota Jurkiewicz ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Clinical Features ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

Cytochrome c oxidase deficiency in menkes kinky hair disease

1983 ◽  
Vol 5 (6) ◽  
pp. 533-540 ◽  
Author(s):  
Mitsuo Maehara ◽  
Nobuaki Ogasawara ◽  
Naoki Mizutani ◽  
Kazuyoshi Watanabe ◽  
Sakae Suzuki
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Kinky Hair Disease ◽  
Menkes Kinky Hair Disease ◽  
Kinky Hair

Successful treatment of heart failure with enoximone in a patient with cytochrome c oxidase deficiency

1996 ◽  
Vol 155 (6) ◽  
pp. 525-525 ◽  
Author(s):  
A. Timnik ◽  
S. Mühlbauer ◽  
A. Merkenschlager ◽  
K. Reiter ◽  
W. Lindner ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Successful Treatment ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals Cytochrome c Oxidase Deficiency in Human Posterior Cricoarytenoid Muscle

2011 ◽  
Vol 25 (4) ◽  
pp. 387-394 ◽  
Author(s):  
Cari M. Tellis ◽  
Clark Rosen ◽  
John M. Close ◽  
Michael Horton ◽  
J. Scott Yaruss ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Posterior Cricoarytenoid Muscle ◽  
Posterior Cricoarytenoid

scholarly journals OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

2010 ◽  
Vol 19 (15) ◽  
pp. 3043-3052 ◽  
Author(s):  
Patrick Yu-Wai-Man ◽  
Kamil S. Sitarz ◽  
David C. Samuels ◽  
Philip G. Griffiths ◽  
Amy K. Reeve ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Wild Type ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency
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