198 related articles for article (PubMed ID: 24466038)
1. 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]
2. 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]
3. 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]
4. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
Tzoulis C; Denora PS; Santorelli FM; Bindoff LA
J Neurol; 2008 Aug; 255(8):1142-4. PubMed ID: 18563470
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
Warnecke T; Duning T; Schwan A; Lohmann H; Epplen JT; Young P
Neurology; 2007 Jul; 69(4):368-75. PubMed ID: 17646629
[TBL] [Abstract][Full Text] [Related]
7. Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.
Mancuso G; Barth E; Crivello P; Rugarli EI
PLoS One; 2012; 7(5):e36337. PubMed ID: 22563492
[TBL] [Abstract][Full Text] [Related]
8. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
Casari G; De Fusco M; Ciarmatori S; Zeviani M; Mora M; Fernandez P; De Michele G; Filla A; Cocozza S; Marconi R; Dürr A; Fontaine B; Ballabio A
Cell; 1998 Jun; 93(6):973-83. PubMed ID: 9635427
[TBL] [Abstract][Full Text] [Related]
9. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM; Adams D; Bonn F; Martinelli P; Cherukuri PF; Teer JK; Hansen NF; Cruz P; Mullikin For The Nisc Comparative Sequencing Program JC; Blakesley RW; Golas G; Kwan J; Sandler A; Fuentes Fajardo K; Markello T; Tifft C; Blackstone C; Rugarli EI; Langer T; Gahl WA; Toro C
PLoS Genet; 2011 Oct; 7(10):e1002325. PubMed ID: 22022284
[TBL] [Abstract][Full Text] [Related]
10. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
Doi H; Ohba C; Tsurusaki Y; Miyatake S; Miyake N; Saitsu H; Kawamoto Y; Yoshida T; Koyano S; Suzuki Y; Kuroiwa Y; Tanaka F; Matsumoto N
Intern Med; 2013; 52(14):1629-33. PubMed ID: 23857099
[TBL] [Abstract][Full Text] [Related]
11. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
Seo Y; Lim HT; Lee BJ; Han J
Am J Med Genet A; 2023 Feb; 191(2):582-585. PubMed ID: 36367250
[TBL] [Abstract][Full Text] [Related]
12. Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.
Sambri I; Massa F; Gullo F; Meneghini S; Cassina L; Carraro M; Dina G; Quattrini A; Patanella L; Carissimo A; Iuliano A; Santorelli F; Codazzi F; Grohovaz F; Bernardi P; Becchetti A; Casari G
EBioMedicine; 2020 Nov; 61():103050. PubMed ID: 33045469
[TBL] [Abstract][Full Text] [Related]
13. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Wilkinson PA; Crosby AH; Turner C; Bradley LJ; Ginsberg L; Wood NW; Schapira AH; Warner TT
Brain; 2004 May; 127(Pt 5):973-80. PubMed ID: 14985266
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Elleuch N; Depienne C; Benomar A; Hernandez AM; Ferrer X; Fontaine B; Grid D; Tallaksen CM; Zemmouri R; Stevanin G; Durr A; Brice A
Neurology; 2006 Mar; 66(5):654-9. PubMed ID: 16534102
[TBL] [Abstract][Full Text] [Related]
16. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
Thal DR; Züchner S; Gierer S; Schulte C; Schöls L; Schüle R; Synofzik M
Int J Mol Sci; 2015 Oct; 16(10):25050-66. PubMed ID: 26506339
[TBL] [Abstract][Full Text] [Related]
17. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Arnoldi A; Tonelli A; Crippa F; Villani G; Pacelli C; Sironi M; Pozzoli U; D'Angelo MG; Meola G; Martinuzzi A; Crimella C; Redaelli F; Panzeri C; Renieri A; Comi GP; Turconi AC; Bresolin N; Bassi MT
Hum Mutat; 2008 Apr; 29(4):522-31. PubMed ID: 18200586
[TBL] [Abstract][Full Text] [Related]
18. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with
Coarelli G; Schule R; van de Warrenburg BPC; De Jonghe P; Ewenczyk C; Martinuzzi A; Synofzik M; Hamer EG; Baets J; Anheim M; Schöls L; Deconinck T; Masrori P; Fontaine B; Klockgether T; D'Angelo MG; Monin ML; De Bleecker J; Migeotte I; Charles P; Bassi MT; Klopstock T; Mochel F; Ollagnon-Roman E; D'Hooghe M; Kamm C; Kurzwelly D; Papin M; Davoine CS; Banneau G; Tezenas du Montcel S; Seilhean D; Brice A; Duyckaerts C; Stevanin G; Durr A
Neurology; 2019 Jun; 92(23):e2679-e2690. PubMed ID: 31068484
[TBL] [Abstract][Full Text] [Related]
19. Investigation of mitochondrial function in hereditary spastic paraparesis.
McDermott CJ; Taylor RW; Hayes C; Johnson M; Bushby KM; Turnbull DM; Shaw PJ
Neuroreport; 2003 Mar; 14(3):485-8. PubMed ID: 12634509
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
