SCA12 PPP2R2B

Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management.

Teije,van Prooije, Norlinah Mohamed,Ibrahim, Shahrul,Azmin, Bart,van de Warrenburg

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Elena,Capacci, Silvia,Bagnoli, Giulia,Giacomucci, Costanza Maria,Rapillo, Alessandra,Govoni, Valentina,Bessi, Cristina,Polito, Irene,Giotti, Alice,Brogi, Elisabetta,Pelo, Sandro,Sorbi, Benedetta,Nacmias, Camilla,Ferrari

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.

H,Fujigasaki, I C,Verma, A,Camuzat, R L,Margolis, C,Zander, A S,Lebre, L,Jamot, R,Saxena, I,Anand, S E,Holmes, C A,Ross, A,Dürr, A,Brice

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

S E,Holmes, E E,O'Hearn, M G,McInnis, D A,Gorelick-Feldman, J J,Kleiderlein, C,Callahan, N G,Kwak, R G,Ingersoll-Ashworth, M,Sherr, A J,Sumner, A H,Sharp, U,Ananth, W K,Seltzer, M A,Boss, A M,Vieria-Saecker, J T,Epplen, O,Riess, C A,Ross, R L,Margolis

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

Priyanka,Sandal, Chian Ju,Jong, Ronald A,Merrill, Grace J,Kollman, Austin H,Paden, Eric G,Bend, Jennifer,Sullivan, Rebecca C,Spillmann, Vandana,Shashi, Anneke T,Vulto-van Silfhout, Rolph,Pfundt, Bert B A,de Vries, Pan P,Li, Louise S,Bicknell, Stefan,Strack

Non-motor symptoms in patients with Spinocerebellar ataxia type 12.

Purba,Basu, Supriyo,Choudhury, Siddhartha Sankar,Mondal, Ummatul,Siddique, Simin,Rahman, Jacky,Ganguly, Soumava,Mukherjee, Nilam,Singh, Mona,Tiwari, Hrishikesh,Kumar

Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.

Xun,Zhou, Runcheng,He, Sheng,Zeng, Mingqiang,Li, Hongxu,Pan, Yuwen,Zhao, Zhenhua,Liu, Qian,Xu, Jifeng,Guo, Xinxiang,Yan, Jinchen,Li, Beisha,Tang, Qiying,Sun

Role of Bβ1 overexpression in the pathogenesis of SCA12.

Chengqian,Zhou, Fan,Tang, Tao,Dong, Hans B,Liu, Leon,Deng, Russell L,Margolis, Pan P,Li

Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis.

Manish,Kumar, Shweta,Sahni, Vivekanand,A, Deepak,Kumar, Neetu,Kushwah, Divya,Goel, Himanshi,Kapoor, Achal K,Srivastava, Mohammed,Faruq

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China.

Zhilin,Zheng, Zeyu,Zhu, Jiali,Pu, Chen,Zhou, Lanxiao,Cao, Dayao,Lv, Jinyu,Lu, Gaohua,Zhao, Yanxing,Chen, Jun,Tian, Xinzhen,Yin, Baorong,Zhang, Yaping,Yan, Guohua,Zhao

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Fatemeh,Ghorbani, Eddy N,de Boer, Marloes,Benjamins-Stok, Corien C,Verschuuren-Bemelmans, Jurjen,Knapper, Jelkje,de Boer-Bergsma, Jeroen J,de Vries, Birgit,Sikkema-Raddatz, Dineke S,Verbeek, Helga,Westers, Cleo C,van Diemen

Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.

Valakunja Harikrishna,Ganaraja, Vikram V,Holla, Albert,Stezin, Nitish,Kamble, Ravi,Yadav, Meera,Purushottam, Sanjeev,Jain, Pramod Kumar,Pal