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Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2018, Volume 235, Issue 11, pp. 1235 - 1241
Journal Article
Klinische Monatsblatter fur Augenheilkunde, 11/2018, Volume 235, Issue 11, p. 1235
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2015, Volume 125, Issue 7, pp. 2572 - 2575
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 99 - 104
Journal Article
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2018, Volume 13, Issue 12, pp. e0205380 - e0205380
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, pp. e0145951 - e0145951
Journal Article
by Bailey, Jessica N Cooke and Loomis, Stephanie J and Kang, Jae H and Allingham, R. Rand and Gharahkhani, Puya and Khor, Chiea Chuen and Burdon, Kathryn P and Aschard, Hugues and Chasman, Daniel I and Igo, Robert P and Hysi, Pirro G and Glastonbury, Craig A and Ashley-Koch, Allison and Brilliant, Murray and Brown, Andrew A and Budenz, Donald L and Buil, Alfonso and Cheng, Ching-Yu and Choi, Hyon and Christen, William G and Curhan, Gary and De Vivo, Immaculata and Fingert, John H and Foster, Paul J and Fuchs, Charles and Gaasterland, Douglas and Gaasterland, Terry and Hewitt, Alex W and Hu, Frank and Hunter, David J and Khawaja, Anthony P and Lee, Richard K and Li, Zheng and Lichter, Paul R and Mackey, David A and McGuffin, Peter and Mitchell, Paul and Moroi, Sayoko E and Perera, Shamira A and Pepper, Keating W and Qi, Qibin and Realini, Tony and Richards, Julia E and Ridker, Paul M and Rimm, Eric and Ritch, Robert and Ritchie, Marylyn and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Song, Yeunjoo E and Tamimi, Rulla M and Topouzis, Fotis and Viswanathan, Ananth C and Verma, Shefali Setia and Vollrath, Douglas and Wang, Jie Jin and Weisschuh, Nicole and Wissinger, Bernd and Wollstein, Gadi and Wong, Tien Y and Yaspan, Brian L and Zack, Donald J and Zhang, Kang and Weinreb, Robert N and Pericak-Vance, Margaret A and Small, Kerrin and Hammond, Christopher J and Aung, Tin and Liu, Yutao and Vithana, Eranga N and MacGregor, Stuart and Craig, Jamie E and Kraft, Peter and Howell, Gareth and Hauser, Michael A and Pasquale, Louis R and Haines, Jonathan L and Wiggs, Janey L and EPIC Norfolk Eye Study and ANZRAG Consortium
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 189 - 194
Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | Index Medicus | Abridged Index Medicus | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article