190 related articles for article (PubMed ID: 25927548)
1. 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]
2. 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]
3. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA
BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166
[TBL] [Abstract][Full Text] [Related]
4. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.
Ichikawa Y; Ishiura H; Mitsui J; Takahashi Y; Kobayashi S; Takuma H; Kanazawa I; Doi K; Yoshimura J; Morishita S; Goto J; Tsuji S
J Neurol Sci; 2013 Aug; 331(1-2):158-60. PubMed ID: 23786967
[TBL] [Abstract][Full Text] [Related]
5. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
Hammer MB; El Euch-Fayache G; Nehdi H; Saidi D; Nasri A; Nabli F; Bouhlal Y; Maamouri-Hicheri W; Hentati F; Amouri R
Diagn Mol Pathol; 2012 Dec; 21(4):241-5. PubMed ID: 23111195
[TBL] [Abstract][Full Text] [Related]
6. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C
Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260
[TBL] [Abstract][Full Text] [Related]
7. Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).
Arning L; Schöls L; Cin H; Souquet M; Epplen JT; Timmann D
Neurogenetics; 2008 Oct; 9(4):295-9. PubMed ID: 18663494
[TBL] [Abstract][Full Text] [Related]
8. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
Lu C; Zheng YC; Dong Y; Li HF
BMC Neurol; 2016 Sep; 16(1):179. PubMed ID: 27644330
[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. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
Schöls L; Arning L; Schüle R; Epplen JT; Timmann D
J Neurol; 2008 Apr; 255(4):495-501. PubMed ID: 18350359
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.
Pera J; Lechner S; Biskup S; Strach M; Grodzicki T; Slowik A
Clin Neurol Neurosurg; 2015 Jan; 128():44-6. PubMed ID: 25462094
[No Abstract] [Full Text] [Related]
13. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
Ponger P; Kurolap A; Lerer I; Dagan J; Chai Gadot C; Mory A; Wilnai Y; Oniashvili N; Giladi N; Gurevich T; Meiner V; Lossos A; Baris Feldman H
J Mol Neurosci; 2022 Aug; 72(8):1715-1723. PubMed ID: 35676594
[TBL] [Abstract][Full Text] [Related]
14. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
Craigen WJ; Graham BH; Wong LJ; Scaglia F; Lewis RA; Bonnen PE
BMC Med Genet; 2013 Aug; 14():83. PubMed ID: 23947751
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Airoldi G; Guidarelli A; Cantoni O; Panzeri C; Vantaggiato C; Bonato S; Grazia D'Angelo M; Falcone S; De Palma C; Tonelli A; Crimella C; Bondioni S; Bresolin N; Clementi E; Bassi MT
Neurogenetics; 2010 Feb; 11(1):91-100. PubMed ID: 19593598
[TBL] [Abstract][Full Text] [Related]
18. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M; Hammer MB; Stevanin G; Monin ML; Davoine CS; Mochel F; Labauge P; Ewenczyk C; Ding J; Gibbs JR; Hannequin D; Melki J; Toutain A; Laugel V; Forlani S; Charles P; Broussolle E; Thobois S; Afenjar A; Anheim M; Calvas P; Castelnovo G; de Broucker T; Vidailhet M; Moulignier A; Ghnassia RT; Tallaksen C; Mignot C; Goizet C; Le Ber I; Ollagnon-Roman E; Pouget J; Brice A; Singleton A; Durr A;
JAMA Neurol; 2018 May; 75(5):591-599. PubMed ID: 29482223
[TBL] [Abstract][Full Text] [Related]
19. Some pathogenic SETX variants are partially conserved during evolution.
Tariq H; Tariq I; Bourinaris T; Houlden H; Naz S
Gene; 2021 Mar; 771():145360. PubMed ID: 33333218
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]