300 related articles for article (PubMed ID: 24727571)
1. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G; Gorman GS; Griffin H; Kurzawa-Akanbi M; Blakely EL; Wilson I; Sitarz K; Moore D; Murphy JL; Alston CL; Pyle A; Coxhead J; Payne B; Gorrie GH; Longman C; Hadjivassiliou M; McConville J; Dick D; Imam I; Hilton D; Norwood F; Baker MR; Jaiser SR; Yu-Wai-Man P; Farrell M; McCarthy A; Lynch T; McFarland R; Schaefer AM; Turnbull DM; Horvath R; Taylor RW; Chinnery PF
Brain; 2014 May; 137(Pt 5):1323-36. PubMed ID: 24727571
[TBL] [Abstract][Full Text] [Related]
2. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
Wedding IM; Koht J; Tran GT; Misceo D; Selmer KK; Holmgren A; Frengen E; Bindoff L; Tallaksen CM; Tzoulis C
PLoS One; 2014; 9(1):e86340. PubMed ID: 24466038
[TBL] [Abstract][Full Text] [Related]
3. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
Gorman GS; Pfeffer G; Griffin H; Blakely EL; Kurzawa-Akanbi M; Gabriel J; Sitarz K; Roberts M; Schoser B; Pyle A; Schaefer AM; McFarland R; Turnbull DM; Horvath R; Chinnery PF; Taylor RW
JAMA Neurol; 2015 Jan; 72(1):106-11. PubMed ID: 25420100
[TBL] [Abstract][Full Text] [Related]
4. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
De la Casa-Fages B; Fernández-Eulate G; Gamez J; Barahona-Hernando R; Morís G; García-Barcina M; Infante J; Zulaica M; Fernández-Pelayo U; Muñoz-Oreja M; Urtasun M; Olaskoaga A; Zelaya V; Jericó I; Saez-Villaverde R; Catalina I; Sola E; Martínez-Sáez E; Pujol A; Ruiz M; Schlüter A; Spinazzola A; Muñoz-Blanco JL; Grandas F; Holt I; Álvarez V; López de Munaín A
Mov Disord; 2019 Oct; 34(10):1547-1561. PubMed ID: 31433872
[TBL] [Abstract][Full Text] [Related]
5. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
[TBL] [Abstract][Full Text] [Related]
6. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X; Zhang L; Wu Y; Li G; Chen S; Xia Y; Li H
BMC Neurol; 2018 Nov; 18(1):196. PubMed ID: 30497413
[TBL] [Abstract][Full Text] [Related]
7. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
Van Goethem G; Martin JJ; Dermaut B; Löfgren A; Wibail A; Ververken D; Tack P; Dehaene I; Van Zandijcke M; Moonen M; Ceuterick C; De Jonghe P; Van Broeckhoven C
Neuromuscul Disord; 2003 Feb; 13(2):133-42. PubMed ID: 12565911
[TBL] [Abstract][Full Text] [Related]
8. Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Kierdaszuk B; Kaliszewska M; Rusecka J; Kosińska J; Bartnik E; Tońska K; Kamińska AM; Kostera-Pruszczyk A
Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33396418
[TBL] [Abstract][Full Text] [Related]
9. Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.
Sato K; Yabe I; Yaguchi H; Nakano F; Kunieda Y; Saitoh S; Sasaki H
J Neurol; 2011 Jul; 258(7):1327-32. PubMed ID: 21301859
[TBL] [Abstract][Full Text] [Related]
10. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.
Tyynismaa H; Ylikallio E; Patel M; Molnar MJ; Haller RG; Suomalainen A
Am J Hum Genet; 2009 Aug; 85(2):290-5. PubMed ID: 19664747
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
Greaves LC; Yu-Wai-Man P; Blakely EL; Krishnan KJ; Beadle NE; Kerin J; Barron MJ; Griffiths PG; Dickinson AJ; Turnbull DM; Taylor RW
Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3340-6. PubMed ID: 20164463
[TBL] [Abstract][Full Text] [Related]
12. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Rodríguez-López C; García-Cárdaba LM; Blázquez A; Serrano-Lorenzo P; Gutiérrez-Gutiérrez G; San Millán-Tejado B; Muelas N; Hernández-Laín A; Vílchez JJ; Gutiérrez-Rivas E; Arenas J; Martín MA; Domínguez-González C
J Med Genet; 2020 Sep; 57(9):643-646. PubMed ID: 32161153
[TBL] [Abstract][Full Text] [Related]
13. Progressive external ophthalmoplegia.
Hirano M; Pitceathly RDS
Handb Clin Neurol; 2023; 194():9-21. PubMed ID: 36813323
[TBL] [Abstract][Full Text] [Related]
14. Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.
Pulkes T; Liolitsa D; Nelson IP; Hanna MG
Neurology; 2003 Oct; 61(8):1144-7. PubMed ID: 14581685
[TBL] [Abstract][Full Text] [Related]
15. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.
Moslemi AR; Melberg A; Holme E; Oldfors A
Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011
[TBL] [Abstract][Full Text] [Related]
16. Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.
Martikainen MH; Hinttala R; Majamaa K
BMJ Case Rep; 2010 Sep; 2010():. PubMed ID: 22778364
[TBL] [Abstract][Full Text] [Related]
17. Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients.
Laforêt P; Lombès A; Eymard B; Danan C; Chevallay M; Rouche A; Frachon P; Fardeau M
Neuromuscul Disord; 1995 Sep; 5(5):399-413. PubMed ID: 7496174
[TBL] [Abstract][Full Text] [Related]
18. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
Hanisch F; Kornhuber M; Alston CL; Taylor RW; Deschauer M; Zierz S
J Neurol Neurosurg Psychiatry; 2015 Jun; 86(6):630-4. PubMed ID: 25143630
[TBL] [Abstract][Full Text] [Related]
19. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning SL; Wedding IM; Koht J; Chawla M; Øye AM; Sheng Y; Vigeland MD; Selmer KK; Tallaksen CM
Eur J Neurol; 2016 Apr; 23(4):763-71. PubMed ID: 26756429
[TBL] [Abstract][Full Text] [Related]
20. A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.
Santoro L; Manganelli F; Lanzillo R; Tessa A; Barbieri F; Pierelli F; Di Giacinto G; Nigro V; Santorelli FM
J Neurol; 2006 Jul; 253(7):869-74. PubMed ID: 16715201
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
