Literature DB >> 27350687

Exploration of CAG triplet repeat in nontranslated region of SCA12 gene.

Waseem Gul Lone1, Imran Ali Khan, Subhadra Poornima, Noor Ahmad Shaik, Angmuthu Kanikannan Meena, Kaipa Prabhakar Rao, Qurratulain Hasan.   

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Year:  2016        PMID: 27350687     DOI: 10.1007/s12041-016-0624-3

Source DB:  PubMed          Journal:  J Genet        ISSN: 0022-1333            Impact factor:   1.166


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  25 in total

Review 1.  Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.

Authors:  G Stevanin; A Dürr; A Brice
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

2.  Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study.

Authors:  Samira Bahl; Ikhlak Ahmed; Mitali Mukerji
Journal:  J Genet       Date:  2009-04       Impact factor: 1.166

3.  Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

Authors:  B P C van de Warrenburg; R J Sinke; C C Verschuuren-Bemelmans; H Scheffer; E R Brunt; P F Ippel; J A Maat-Kievit; D Dooijes; N C Notermans; D Lindhout; N V A M Knoers; H P H Kremer
Journal:  Neurology       Date:  2002-03-12       Impact factor: 9.910

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

Authors:  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
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

Review 5.  Spinocerebellar ataxia type 12.

Authors:  Elizabeth O'Hearn; Susan E Holmes; Russell L Margolis
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6.  Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12.

Authors:  A K Srivastava; S Choudhry; M S Gopinath; S Roy; M Tripathi; S K Brahmachari; S Jain
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7.  Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.

Authors:  Joanne E Martindale; Sara Seneca; Stefan Wieczorek; Jorge Sequeiros
Journal:  Hum Mutat       Date:  2012-08-01       Impact factor: 4.878

8.  PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications.

Authors:  Chiung-Mei Chen; Yi-Ting Hou; Ju-Yun Liu; Yih-Ru Wu; Chih-Hsin Lin; Hon-Chung Fung; Wen-Chuin Hsu; Yuying Hsu; Shen-Hung Lee; Hsiu-Mei Hsieh-Li; Ming-Tsan Su; Shui-Tein Chen; Hsien-Yuan Lane; Guey-Jen Lee-Chen
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2009-01-05       Impact factor: 3.568

9.  Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients.

Authors:  Jin Whan Cho; Sung Yeon Kim; Sung Sup Park; Beom S Jeon
Journal:  Can J Neurol Sci       Date:  2008-09       Impact factor: 2.104

10.  Role of dynamic and mitochondrial mutations in neurodegenerative diseases with ataxia: lower repeats and LNAs at multiple loci as alternative pathogenesis.

Authors:  Waseem Gul Lone; Subhadra Poornima; Angmuthu Kanikannan Meena; Kaipa Prabhakar Rao; Qurratulain Hasan
Journal:  J Mol Neurosci       Date:  2014-10-12       Impact factor: 3.444

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Review 1.  An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.

Authors:  Sanjog R Chintalaphani; Sandy S Pineda; Ira W Deveson; Kishore R Kumar
Journal:  Acta Neuropathol Commun       Date:  2021-05-25       Impact factor: 7.801

2.  Between Interactions and Aggregates: The PolyQ Balance.

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Journal:  Genome Biol Evol       Date:  2021-11-05       Impact factor: 3.416

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