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Quoted phrase not found in phrase index: "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3"
Page 1
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A. Martin-Negrier ML, et al. Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29. Eur J Neurol. 2011. PMID: 20880070 Review.
BACKGROUND: Multiple mitochondrial DNA (mtDNA) deletions usually have a mendelian inheritance secondary to mutation in nuclear genes. One of these is the Twinkle gene whose mutation is responsible for autosomal dominant progressive …
BACKGROUND: Multiple mitochondrial DNA (mtDNA) deletions usually have a mendelian inheritance secondary to mutation in …
Mitochondrial DNA mutations in diseases of energy metabolism.
Wallace DC. Wallace DC. J Bioenerg Biomembr. 1994 Jun;26(3):241-50. doi: 10.1007/BF00763096. J Bioenerg Biomembr. 1994. PMID: 8077179 Review.
A variety of degenerative diseases involving deficiencies in mitochondrial bioenergetics have been associated with mitochondrial DNA (mtDNA) mutations. ...More severe rearrangements frequently involving detections have been associated with adult-onset Chro …
A variety of degenerative diseases involving deficiencies in mitochondrial bioenergetics have been associated with mitochondrial …
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.
Melberg A, Arnell H, Dahl N, Stålberg E, Raininko R, Oldfors A, Bakall B, Lundberg PO, Holme E. Melberg A, et al. Muscle Nerve. 1996 Dec;19(12):1561-9. doi: 10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUS5>3.0.CO;2-8. Muscle Nerve. 1996. PMID: 8941270
Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence …
Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with …
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24.
Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C. Li FY, et al. Neurology. 1999 Oct 12;53(6):1265-71. doi: 10.1212/wnl.53.6.1265. Neurology. 1999. PMID: 10522883
OBJECTIVE: To map the gene responsible for autosomal dominant progressive external opthalmoplegia. BACKGROUND: The pathogenesis of progressive external ophthalmoplegia (PEO) can be associated with multiple deletions o …
OBJECTIVE: To map the gene responsible for autosomal dominant progressive external opthalmoplegia. BACKGR …
Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.
Korhonen JA, Pande V, Holmlund T, Farge G, Pham XH, Nilsson L, Falkenberg M. Korhonen JA, et al. J Mol Biol. 2008 Mar 28;377(3):691-705. doi: 10.1016/j.jmb.2008.01.035. Epub 2008 Jan 26. J Mol Biol. 2008. PMID: 18279890
TWINKLE is the helicase at the mitochondrial DNA (mtDNA) replication fork in mammalian cells. Mutations in the PEO1 gene, which encodes TWINKLE, cause autosomal dominant progressive external ophthalmoplegia (AdPEO), a disord …
TWINKLE is the helicase at the mitochondrial DNA (mtDNA) replication fork in mammalian cells. Mutations in the PEO1 gene …
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M. Kaukonen JA, et al. Am J Hum Genet. 1996 Apr;58(4):763-9. Am J Hum Genet. 1996. PMID: 8644740 Free PMC article.
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. ...The pattern of inheritance indicates a nuclear …
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, …
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Hudson G, et al. Arch Neurol. 2007 Apr;64(4):553-7. doi: 10.1001/archneur.64.4.553. Arch Neurol. 2007. PMID: 17420318
OBJECTIVE: To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. ...RESULT …
OBJECTIVE: To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia a …
Clinical and molecular features of adPEO due to mutations in the Twinkle gene.
Lewis S, Hutchison W, Thyagarajan D, Dahl HH. Lewis S, et al. J Neurol Sci. 2002 Sep 15;201(1-2):39-44. doi: 10.1016/s0022-510x(02)00190-9. J Neurol Sci. 2002. PMID: 12163192
We have analyzed Twinkle, the causative gene for autosomal dominant progressive external ophthalmoplegia (adPEO) on chromosome 10, in 11 Australian autosomal dominant progressive external ophthalmoplegia …
We have analyzed Twinkle, the causative gene for autosomal dominant progressive external ophthalmopleg …