Literature DB >> 27748352

A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5.

Li-Zhi Liu1, Ming Ren2, Mao Li1, Yu-Ting Ren1, Bo Sun1, Xiao-Sun Sun1, Si-Yu Chen1, Si-Yuan Li1, Xu-Sheng Huang1.   

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Year:  2016        PMID： 27748352      PMCID： PMC5072272          DOI： 10.4103/0366-6999.191834

Source DB:  PubMed          Journal:  Chin Med J (Engl)        ISSN： 0366-6999            Impact factor:   2.628


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Review 4.  Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

Authors:  K Bürk; C Zühlke; I R König; A Ziegler; E Schwinger; C Globas; J Dichgans; Y Hellenbroich
Journal:  Neurology       Date:  2004-01-27       Impact factor: 9.910
  4 in total
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1.  β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization.

Authors:  Adam W Avery; David D Thomas; Thomas S Hays
Journal:  Proc Natl Acad Sci U S A       Date:  2017-10-16       Impact factor: 11.205

Review 2.  A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

Authors:  Mohammad A Al-Muhaizea; Faten AlMutairi; Rawan Almass; Safinaz AlHarthi; Mazhor S Aldosary; Maysoon Alsagob; Ali AlOdaib; Dilek Colak; Namik Kaya
Journal:  Cerebellum       Date:  2018-06       Impact factor: 3.847

3.  Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Authors:  Stuart Aitken; Helen V Firth; Jeremy McRae; Mihail Halachev; Usha Kini; Michael J Parker; Melissa M Lees; Katherine Lachlan; Ajoy Sarkar; Shelagh Joss; Miranda Splitt; Shane McKee; Andrea H Németh; Richard H Scott; Caroline F Wright; Joseph A Marsh; Matthew E Hurles; David R FitzPatrick
Journal:  Am J Hum Genet       Date:  2019-10-10       Impact factor: 11.025
  3 in total

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