| 1 | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. (20880070) | Martin-Negrier M.L.... Vital A. | 2011 | C10orf2 |
| 2 | Sequence-specific stalling of DNA polymerase I^ and th e effects of mutations causing progressive ophthalmoplegia. (21228000) | Atanassova N.... Falkenberg M. | 2011 | POLG |
| 3 | Wall-eyed bilateral internuclear ophthalmoplegia (WEB INO) syndrome in a patient with neuromyelitis optica spectrum disorder and anti -aquaporin-4 antibody. (21300735) | Shinoda K.... Kira J. | 2011 | AQP4 |
| 4 | Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. (19705478) | Hong D.... Yuan Y. | 2010 | C10orf2 |
| 5 | A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. (19664747) | Tyynismaa H.... Suomalainen A. | 2009 | RRM1, RRM2B, OPA1 |
| 6 | Novel Twinkle gene mutation in autosomal dominant pro gressive external ophthalmoplegia and multisystem failure. (19853444) | Bohlega S.... Kambouris M. | 2009 | C10orf2 |
| 7 | Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. (18971204) | Goffart S.... Spelbrink J.N. | 2009 | HELLS, C10orf2 |
| 8 | Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. (18502641) | Invernizzi F.... Zeviani M. | 2008 | POLG, POLG2 |
| 9 | Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (18575922) | Virgilio R.... Comi G.P. | 2008 | POLG, SLC25A4, C10orf2 |
| 10 | Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. (18195150) | Ferraris S.... DiMauro S. | 2008 | POLG, OPA1, POLG2 |
| 11 | Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. (18603265) | Cardaioli E.... Federico A. | 2008 | MT-TL2 |
| 12 | Chronic progressive external ophthalmoplegia: a repor t of 6 cases and a review of the literature. (17215725) | Caballero P.E.... Tejerina A.A. | 2007 | PIK3C2A |
| 13 | Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (17420318) | Hudson G.... Chinnery P.F. | 2007 | POLG, SLC25A4, C10orf2 |
| 14 | Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. (17620490) | Baloh R.H.... Pestronk A. | 2007 | C10orf2 |
| 15 | Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjogren-like syndrome. (17712737) | Schulz S.... Wieacker P. | 2007 | SIL1 |
| 16 | Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. (17965958) | Smits B.W.... van Engelen B.G. | 2007 | MT-TI |
| 17 | POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. (16682683) | Hudson G.... Chinnery P.F. | 2006 | POLG |
| 18 | Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. (16940310) | Baruffini E.... Ferrero I. | 2006 | POLG2, MT-RNR1 |
| 19 | Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. (16639504) | Kin T.... Ueno S. | 2006 | MT-RNR2 |
| 20 | Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. (16380615) | Jungbluth H.... Muntoni F. | 2005 | RYR1, SEPN1 |
| 21 | A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (15792871) | Deschauer M.... Zierz S. | 2005 | SLC25A4 |
| 22 | Ophthalmoplegia in a patient with prostate cancer and bone metastases (16238978) | MaciA! Escalante S.... Carrato Mena A. | 2005 | ACPP |
| 23 | A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. (16278891) | McCann E.... Kohlhase J. | 2005 | SALL4 |
| 24 | A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism. (15534189) | Mancuso M.... DiMauro S. | 2004 | POLG |
| 25 | Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. (15531309) | Payne M.... Zhang K. | 2004 | OPA1 |
| 26 | Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. (14735588) | Moretti P.... Scaglia F. | 2004 | ATXN2 |
| 27 | POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. (14745080) | Mancuso M.... Carelli V. | 2004 | POLG |
| 28 | Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. (12565915) | Siciliano G.... Murri L. | 2003 | SLC25A4 |
| 29 | A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. (12719381) | Monnier N.... Lunardi J. | 2003 | RYR1 |
| 30 | Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. (12565911) | Van Goethem G.... Van Broeckhoven C. | 2003 | POLG |
| 31 | Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (12975295) | Filosto M.... DiMauro S. | 2003 | POLG |
| 32 | Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. (12872260) | Van Goethem G.... Van Broeckhoven C. | 2003 | POLG, C10orf2 |
| 33 | Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077) | Van Goethem G.... Vissing J. | 2003 | POLG, TYMP |
| 34 | A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. (12921794) | Deschauer M.... Taylor R.W. | 2003 | TFAM, C10orf2 |
| 35 | Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). (12707443) | Agostino A.... Zeviani M. | 2003 | POLG, SLC25A4, C10orf2 |
| 36 | Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929) | Voit T.... Herrmann R. | 2002 | LAMB2 |
| 37 | Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia. (12140186) | Chen X.J. | 2002 | SLC25A4 |
| 38 | Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. (12210792) | Lamantea E.... Zeviani M. | 2002 | POLG, POLG2 |
| 39 | Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. (11897778) | Ponamarev M.V.... Copeland W.C. | 2002 | POLG, POLG2 |
| 40 | ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. (11756592) | Hirano M.... DiMauro S. | 2001 | POLG, SLC25A4, C10orf2 |
| 41 | Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (11431686) | Van Goethem G.... Van Broeckhoven C. | 2001 | POLG |
| 42 | Molecular studies in Cuban patients with progressive external ophthalmoplegia (10904941) | Rodriguez-Hernandez M.... DiMauro S. | 2000 | CPOX |
| 43 | Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. (9932958) | Tein I.... Vockley J. | 1999 | ACADS |
| 44 | A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. (10364542) | Kaukonen J.... Suomalainen A. | 1999 | SLC25A4 |
| 45 | Autosomal dominant myopathy with congenital joint con tractures, ophthalmoplegia, and rimmed vacuoles. (9708547) | Darin N.... Oldfors A. | 1998 | IBM3 |
| 46 | 'All-or-none' cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study. (8381519) | Matsuoka T.... Nonaka I. | 1993 | COX5A |
| 47 | A case of chronic progressive external ophthalmoplegia associated with familial hypercholesterolemia (1628435) | Orimo S.... Goto Y. | 1992 | LDLR |
| 48 | An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. (1838393) | Barnes D.... Harding A.E. | 1991 | HEXA |
| 49 | Recessive sex-linked inheritance of congenital external ophthalmoplegia and myopia coincident with other dysplasias. A reappraisal after 15 years. (5928925) | Ortiz de Zarate J.C. | 1966 | OPEM |
| 50 | Recessive sex-linked inheritance of external ophthalmoplegia and myopia coincident with other dysplasias. (14791930) | SALLERAS A.... Ortiz de Zarate J.C. | 1950 | OPEM |
