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3. Role of Bβ1 overexpression in the pathogenesis of SCA12. Zhou C; Tang F; Dong T; Liu HB; Deng L; Margolis RL; Li PP Mov Disord; 2024 Oct; 39(10):1886-1891. PubMed ID: 38798069 [TBL] [Abstract][Full Text] [Related]
5. Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B. Srivastava AK; Takkar A; Garg A; Faruq M Brain; 2017 Jan; 140(1):27-36. PubMed ID: 27864267 [TBL] [Abstract][Full Text] [Related]
6. Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12. Zhou C; Liu HB; Jahanbakhsh F; Deng L; Wu B; Ying M; Margolis RL; Li PP Mov Disord; 2023 Dec; 38(12):2230-2240. PubMed ID: 37735923 [TBL] [Abstract][Full Text] [Related]
7. Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12. Dong Y; Wu JJ; Wu ZY Parkinsonism Relat Disord; 2015 Apr; 21(4):398-401. PubMed ID: 25634432 [TBL] [Abstract][Full Text] [Related]
8. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Holmes SE; Hearn EO; Ross CA; Margolis RL Brain Res Bull; 2001 Oct-Nov 1; 56(3-4):397-403. PubMed ID: 11719278 [TBL] [Abstract][Full Text] [Related]
9. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12. Sato K; Yabe I; Fukuda Y; Soma H; Nakahara Y; Tsuji S; Sasaki H Arch Neurol; 2010 Oct; 67(10):1257-62. PubMed ID: 20937954 [TBL] [Abstract][Full Text] [Related]
11. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Brusco A; Gellera C; Cagnoli C; Saluto A; Castucci A; Michielotto C; Fetoni V; Mariotti C; Migone N; Di Donato S; Taroni F Arch Neurol; 2004 May; 61(5):727-33. PubMed ID: 15148151 [TBL] [Abstract][Full Text] [Related]
12. Why is SCA12 different from other SCAs? Holmes SE; O'Hearn E; Margolis RL Cytogenet Genome Res; 2003; 100(1-4):189-97. PubMed ID: 14526180 [TBL] [Abstract][Full Text] [Related]
13. Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12. Hu T; Zhao B; Wei QQ; Shang H J Neurol Sci; 2015 Feb; 349(1-2):243-5. PubMed ID: 25586539 [TBL] [Abstract][Full Text] [Related]
14. Identification of FXTAS presenting with SCA 12 like phenotype in India. Faruq M; Srivastava AK; Suroliya V; Kumar D; Garg A; Shukla G; Behari M Parkinsonism Relat Disord; 2014 Oct; 20(10):1089-93. PubMed ID: 25085749 [TBL] [Abstract][Full Text] [Related]
15. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. Brussino A; Graziano C; Giobbe D; Ferrone M; Dragone E; Arduino C; Lodi R; Tonon C; Gabellini A; Rinaldi R; Miccoli S; Grosso E; Bellati MC; Orsi L; Migone N; Brusco A Mov Disord; 2010 Jul; 25(9):1269-73. PubMed ID: 20629122 [TBL] [Abstract][Full Text] [Related]
16. Evidence of a common founder for SCA12 in the Indian population. Bahl S; Virdi K; Mittal U; Sachdeva MP; Kalla AK; Holmes SE; O'Hearn E; Margolis RL; Jain S; Srivastava AK; Mukerji M Ann Hum Genet; 2005 Sep; 69(Pt 5):528-34. PubMed ID: 16138911 [TBL] [Abstract][Full Text] [Related]
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