172 related articles for article (PubMed ID: 25420100)
1. 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]
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. 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]
4. Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.
Tunc S; Dulovic-Mahlow M; Baumann H; Baaske MK; Jahn M; Junker J; Münchau A; Brüggemann N; Lohmann K
Cerebellum; 2019 Aug; 18(4):817-822. PubMed ID: 31111429
[TBL] [Abstract][Full Text] [Related]
5. A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Musova Z; Kaiserova M; Kriegova E; Fillerova R; Vasovcak P; Santava A; Mensikova K; Zumrova A; Krepelova A; Sedlacek Z; Kanovsky P
Cerebellum; 2014 Jun; 13(3):331-7. PubMed ID: 24272953
[TBL] [Abstract][Full Text] [Related]
6. Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.
Chiang HL; Fuh JL; Tsai YS; Soong BW; Liao YC; Lee YC
J Neurol Sci; 2021 Sep; 428():117600. PubMed ID: 34333379
[TBL] [Abstract][Full Text] [Related]
7. Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Smets K; Deconinck T; Baets J; Sieben A; Martin JJ; Smouts I; Wang S; Taroni F; Di Bella D; Van Hecke W; Parizel PM; Jadoul C; De Potter R; Couvreur F; Rugarli E; De Jonghe P
Neurology; 2014 Jun; 82(23):2092-100. PubMed ID: 24814845
[TBL] [Abstract][Full Text] [Related]
8. Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
Jia D; Tang B; Chen Z; Shi Y; Sun Z; Zhang L; Wang J; Xia K; Jiang H
Int J Neurosci; 2012 Oct; 122(10):560-2. PubMed ID: 22563911
[TBL] [Abstract][Full Text] [Related]
9. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Cagnoli C; Stevanin G; Brussino A; Barberis M; Mancini C; Margolis RL; Holmes SE; Nobili M; Forlani S; Padovan S; Pappi P; Zaros C; Leber I; Ribai P; Pugliese L; Assalto C; Brice A; Migone N; Dürr A; Brusco A
Hum Mutat; 2010 Oct; 31(10):1117-24. PubMed ID: 20725928
[TBL] [Abstract][Full Text] [Related]
10. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Mancini C; Hoxha E; Iommarini L; Brussino A; Richter U; Montarolo F; Cagnoli C; Parolisi R; Gondor Morosini DI; Nicolò V; Maltecca F; Muratori L; Ronchi G; Geuna S; Arnaboldi F; Donetti E; Giorgio E; Cavalieri S; Di Gregorio E; Pozzi E; Ferrero M; Riberi E; Casari G; Altruda F; Turco E; Gasparre G; Battersby BJ; Porcelli AM; Ferrero E; Brusco A; Tempia F
Neurobiol Dis; 2019 Apr; 124():14-28. PubMed ID: 30389403
[TBL] [Abstract][Full Text] [Related]
11. AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
Almajan ER; Richter R; Paeger L; Martinelli P; Barth E; Decker T; Larsson NG; Kloppenburg P; Langer T; Rugarli EI
J Clin Invest; 2012 Nov; 122(11):4048-58. PubMed ID: 23041622
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Di Bella D; Lazzaro F; Brusco A; Plumari M; Battaglia G; Pastore A; Finardi A; Cagnoli C; Tempia F; Frontali M; Veneziano L; Sacco T; Boda E; Brussino A; Bonn F; Castellotti B; Baratta S; Mariotti C; Gellera C; Fracasso V; Magri S; Langer T; Plevani P; Di Donato S; Muzi-Falconi M; Taroni F
Nat Genet; 2010 Apr; 42(4):313-21. PubMed ID: 20208537
[TBL] [Abstract][Full Text] [Related]
13. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Mancini C; Orsi L; Guo Y; Li J; Chen Y; Wang F; Tian L; Liu X; Zhang J; Jiang H; Nmezi BS; Tatsuta T; Giorgio E; Di Gregorio E; Cavalieri S; Pozzi E; Mortara P; Caglio MM; Balducci A; Pinessi L; Langer T; Padiath QS; Hakonarson H; Zhang X; Brusco A
BMC Med Genet; 2015 Mar; 16():16. PubMed ID: 25927548
[TBL] [Abstract][Full Text] [Related]
14. A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
Löbbe AM; Kang JS; Hilker R; Hackstein H; Müller U; Nolte D
J Mol Neurosci; 2014 Apr; 52(4):493-6. PubMed ID: 24293060
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci F; Neri M; Fortunato F; Ferlini A; Carrozzo R; Torraco A; Lamantea E; Legati A; Tecilla G; Pugliatti M; Sensi M
Cerebellum; 2023 Dec; 22(6):1313-1319. PubMed ID: 36447112
[TBL] [Abstract][Full Text] [Related]
17. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
González-Vioque E; Blázquez A; Fernández-Moreira D; Bornstein B; Bautista J; Arpa J; Navarro C; Campos Y; Fernández-Moreno MA; Garesse R; Arenas J; Martín MA
Arch Neurol; 2006 Jan; 63(1):107-11. PubMed ID: 16401742
[TBL] [Abstract][Full Text] [Related]
18. Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X; Wang L; Chen J; Kang C; Li J
Medicine (Baltimore); 2021 Dec; 100(50):e28008. PubMed ID: 34918652
[TBL] [Abstract][Full Text] [Related]
19. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Hudson G; Amati-Bonneau P; Blakely EL; Stewart JD; He L; Schaefer AM; Griffiths PG; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull DM; Chinnery PF; Taylor RW
Brain; 2008 Feb; 131(Pt 2):329-37. PubMed ID: 18065439
[TBL] [Abstract][Full Text] [Related]
20. Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.
Eskandrani A; AlHashem A; Ali ES; AlShahwan S; Tlili K; Hundallah K; Tabarki B
Pediatr Neurol; 2017 Jun; 71():24-28. PubMed ID: 28449981
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]