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■ Abbreviation / Long Form : PEO / progressive external ophthalmoplegia

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Total Number of Papers: 137
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Abbreviation:   PEO  (>> Co-occurring Abbreviation)
Long Form:   progressive external ophthalmoplegia
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2018 Migraine in mitochondrial disorders: Prevalence and characteristics. MDs, MELAS, MERRF, MNGIE
2018 The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders. KSS, PMS
2017 Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. mtDNA, RNase H1, RNASEH1
2017 Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. AHS, ANS, MCHS, MEMSA, mtDNA, POLG
2017 Revisiting mitochondrial ocular myopathies: a study from the Italian Network. PEO-encephalomyopathy
2016 Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathypatients. MAD, MM, RRFs
2016 Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. ---
2016 Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience. MDs, MELAS, MERRF, MNGIE
2016 Progressive External Ophthalmoplegia. ---
10  2016 The spectrum of epilepsy caused by POLG mutations. OLE, SE
11  2015 Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. mt
12  2015 DNA polymerase gamma and disease: what we have learned from yeast. mtDNA, pol gamma
13  2015 Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. mtDNA
14  2015 Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene. mtDNA, POLG
15  2015 Redefining phenotypes associated with mitochondrial DNA single deletion. KSS, mtDNA
16  2015 Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? mtDNA
17  2015 The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. mtDNA, POLG1, SANDO, SCAE
18  2015 Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. NMD
19  2014 A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells. NARP
20  2014 Adult-onset Mendelian PEO Associated with Mitochondrial Disease. mtDNA
21  2014 Cardiac involvement in chronic progressive external ophthalmoplegia. IBS, Sm, TDI
22  2014 Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism. mtDNA
23  2014 The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? MIDD
24  2014 [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation]. mtDNA, POLG1
25  2014 [Retinal ganglion cell layer and visual function in patients with progressive external ophthalmoplegia caused by common mtDNA deletion]. mt, mtDNA, VEP
26  2013 Clinical and molecular features of POLG-related mitochondrial disease. ANS, MCHS, MEMSA, mtDNA
27  2013 Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. LP-BER
28  2013 NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome. ---
29  2013 Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1. IPD, LC, MRI, mtDNA, SN
30  2013 Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis. PEO1
31  2013 The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. CPEO, MELAS, MIDD
32  2012 Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients. ---
33  2012 Defects in mitochondrial DNA replication and human disease. MNGIE, mtDNA
34  2012 Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia. LP
35  2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. MNGIE
36  2012 Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study. mtDNA
37  2012 Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. arPEO, MDS, mtDNA, TK2
38  2011 A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis. COX, MRS, MS, mt
39  2011 A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. MT-TI gene, mtDNA
40  2011 Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. ---
41  2011 Mitochondrial DNA abnormalities in ophthalmological disease. LHON, mtDNA, OXPHOS
42  2011 SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. mtDNA, PCR
43  2011 Tetracycline treatment in patients with progressive external ophthalmoplegia. ---
44  2011 TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. mtDNA, POLG
45  2011 Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia. COX, RRF
46  2010 A novel variation in the Twinkle linker region causing late-onset dementia. ---
47  2010 POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. mtDNA, POLG
48  2010 Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. aCGH, KSS, MM, mtDNA
49  2010 The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. mtDNA
50  2009 Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. mtDNA
51  2009 Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. mtDNA
52  2009 Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. COX
53  2009 Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. mtDNA
54  2009 [Mitochondrial disease and mitochondrial DNA depletion syndromes]. MDS, MNGIE, mtDNA, SANDO
55  2008 Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. SCAE
56  2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. ---
57  2008 Inherited mitochondrial diseases of DNA replication. MDS, MNGIE, mtDNA
58  2008 Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. COX, mtDNA
59  2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. mtDNA
60  2008 Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. G416A, POLG
61  2008 Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. COX, mtDNA
62  2008 Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. ---
63  2007 The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine. 8-oxodG, pol gamma
64  2007 [Gene expression profiling of classic mitochondrial disorders. Its value in finding therapeutic strategies]. MELAS, mtDNA
65  2006 A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy. mtDNA, OXPHOS
66  2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. mt, POLG
67  2006 Autosomal disorders of mitochondrial DNA maintenance. MDS, mtDNA
68  2006 Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. mtDNA, POF, POLG
69  2006 Extraocular mitochondrial myopathies and their differential diagnoses. ---
70  2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. mtDNA
71  2006 Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA. KSS, mt
72  2005 A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. ANT1
73  2005 Consequences of mutations in human DNA polymerase gamma. SANDO
74  2005 Disorders of nuclear-mitochondrial intergenomic signaling. adPEO, arPEO, DGUOK, MDS, MNGIE, mtDNA, SANDO, SCAE, TK2, TP
75  2005 Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. COX
76  2005 Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. mtDNA
77  2005 Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. SANDO
78  2005 Skeletal muscle gene expression profiling in mitochondrial disorders. MELAS, MEM, mtDNA
79  2004 Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers. KSS, MERRF, RC, RRFs
80  2004 Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. MELAS, mtDNA
81  2004 POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. POLG
82  2004 Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. ---
83  2003 Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. ANT1, C10orf2, POLG
84  2003 Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders. ---
85  2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). mtDNA
86  2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. MNGIE, TP
87  2003 Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. KSS
88  2003 Patient homozygous for a recessive POLG mutation presents with features of MERRF. MERRF, POLG
89  2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. mtDNA
90  2003 Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. mtDNA
91  2003 Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain. ---
92  2002 Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. pol gamma
93  2002 Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy. ---
94  2002 Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. mtDNA, PS
95  2002 Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. MNGIE, mtDNA, POLG
96  2001 Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug. ---
97  2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. mtDNA, POLG
98  2001 Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation. KSS, MM, PCR
99  2000 Analysis of mtDNA deletions in muscle by in situ hybridization. AD, AR, ATP, COX, DeltamtDNA, ISH
100  2000 Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA. ---