176 related articles for article (PubMed ID: 25652355)
1. A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Kunii M; Doi H; Higashiyama Y; Kugimoto C; Ueda N; Hirata J; Tomita-Katsumoto A; Kashikura-Kojima M; Kubota S; Taniguchi M; Murayama K; Nakashima M; Tsurusaki Y; Miyake N; Saitsu H; Matsumoto N; Tanaka F
J Hum Genet; 2015 Apr; 60(4):187-91. PubMed ID: 25652355
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
Mordaunt DA; Jolley A; Balasubramaniam S; Thorburn DR; Mountford HS; Compton AG; Nicholl J; Manton N; Clark D; Bratkovic D; Friend K; Yu S
Am J Med Genet A; 2015 Jun; 167(6):1330-6. PubMed ID: 25899669
[TBL] [Abstract][Full Text] [Related]
3. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
Ghezzi D; Arzuffi P; Zordan M; Da Re C; Lamperti C; Benna C; D'Adamo P; Diodato D; Costa R; Mariotti C; Uziel G; Smiderle C; Zeviani M
Nat Genet; 2011 Mar; 43(3):259-63. PubMed ID: 21278747
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
Morino H; Miyamoto R; Ohnishi S; Maruyama H; Kawakami H
BMC Neurol; 2014 Jan; 14():5. PubMed ID: 24397319
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N; Yano S; Sakai C; Hatakeyama H; Matsushima Y; Shiina M; Watanabe Y; Bartley J; Abdenur JE; Wang RY; Chang R; Tsurusaki Y; Doi H; Nakashima M; Saitsu H; Ogata K; Goto Y; Matsumoto N
Hum Mutat; 2013 Mar; 34(3):446-52. PubMed ID: 23281071
[TBL] [Abstract][Full Text] [Related]
6. Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype.
Conboy E; Selcen D; Brodsky M; Gavrilova R; Ho ML
Semin Pediatr Neurol; 2018 Jul; 26():16-20. PubMed ID: 29961508
[TBL] [Abstract][Full Text] [Related]
7. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Barca E; Musumeci O; Montagnese F; Marino S; Granata F; Nunnari D; Peverelli L; DiMauro S; Quinzii CM; Toscano A
Clin Genet; 2016 Aug; 90(2):156-60. PubMed ID: 26818466
[TBL] [Abstract][Full Text] [Related]
8. A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Xuan X; Ruan J; Wu C; Gao Y; Li L; Lei X
CNS Neurosci Ther; 2024 Mar; 30(3):e14425. PubMed ID: 37927170
[TBL] [Abstract][Full Text] [Related]
9. Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
Nogueira C; Barros J; Sá MJ; Azevedo L; Taipa R; Torraco A; Meschini MC; Verrigni D; Nesti C; Rizza T; Teixeira J; Carrozzo R; Pires MM; Vilarinho L; Santorelli FM
Neurogenetics; 2013 May; 14(2):153-60. PubMed ID: 23532514
[TBL] [Abstract][Full Text] [Related]
10. TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.
Bottani E; Cerutti R; Harbour ME; Ravaglia S; Dogan SA; Giordano C; Fearnley IM; D'Amati G; Viscomi C; Fernandez-Vizarra E; Zeviani M
Mol Cell; 2017 Jul; 67(1):96-105.e4. PubMed ID: 28673544
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.
Melchionda L; Damseh NS; Abu Libdeh BY; Nasca A; Elpeleg O; Zanolini A; Ghezzi D
Front Genet; 2014; 5():397. PubMed ID: 25452764
[TBL] [Abstract][Full Text] [Related]
12. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch J; Freisinger P; Feichtinger RG; Zimmermann FA; Rauscher C; Wagentristl HP; Konstantopoulou V; Seidl R; Haack TB; Prokisch H; Ahting U; Sperl W; Mayr JA; Maier EM
Orphanet J Rare Dis; 2015 Apr; 10():40. PubMed ID: 25887401
[TBL] [Abstract][Full Text] [Related]
13. A Novel
Habibzadeh P; Inaloo S; Silawi M; Dastsooz H; Farazi Fard MA; Sadeghipour F; Faghihi Z; Rezaeian M; Yavarian M; Böhm J; Faghihi MA
Front Neurol; 2019; 10():944. PubMed ID: 31551910
[TBL] [Abstract][Full Text] [Related]
14. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K; Morino H; Miyamoto R; Matsuda Y; Ohsawa R; Kanaya Y; Tada Y; Kurashige T; Kawakami H
BMC Med Genet; 2020 Mar; 21(1):68. PubMed ID: 32234020
[TBL] [Abstract][Full Text] [Related]
15. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?
Jacquemont S; Orrico A; Galli L; Sahota PK; Brunberg JA; Anichini C; Leehey M; Schaeffer S; Hagerman RJ; Hagerman PJ; Tassone F
J Med Genet; 2005 Feb; 42(2):e14. PubMed ID: 15689437
[No Abstract] [Full Text] [Related]
16. Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Crosby AH; Patel H; Chioza BA; Proukakis C; Gurtz K; Patton MA; Sharifi R; Harlalka G; Simpson MA; Dick K; Reed JA; Al-Memar A; Chrzanowska-Lightowlers ZM; Cross HE; Lightowlers RN
Am J Hum Genet; 2010 Nov; 87(5):655-60. PubMed ID: 20970105
[TBL] [Abstract][Full Text] [Related]
17. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.
Ardissone A; Granata T; Legati A; Diodato D; Melchionda L; Lamantea E; Garavaglia B; Ghezzi D; Moroni I
JIMD Rep; 2015; 22():115-20. PubMed ID: 25772319
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial complex III Rieske Fe-S protein processing and assembly.
Fernandez-Vizarra E; Zeviani M
Cell Cycle; 2018; 17(6):681-687. PubMed ID: 29243944
[TBL] [Abstract][Full Text] [Related]
19. Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.
Lax NZ; Gnanapavan S; Dowson SJ; Alston CL; He L; Polvikoski TM; Jaros E; O'Donovan DG; Yarham JW; Turnbull DM; Dean AF; Taylor RW
J Neuropathol Exp Neurol; 2013 Feb; 72(2):164-75. PubMed ID: 23334599
[TBL] [Abstract][Full Text] [Related]
20. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat O; Tzoulis C; Knappskog PM; Johansson S; Boman H; Sztromwasser P; Lien E; Brodtkorb E; Ghezzi D; Bindoff LA
Eur J Neurol; 2016 Jul; 23(7):1188-94. PubMed ID: 27106809
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
