Literature DB >> 35486334

The first case report of spinocerebellar ataxia type-40 in India: novel phenotypic and radiological (bilateral olivary degeneration) features and a comprehensive review of this remarkable radiological sign.

Ritwik Ghosh1, Moisés León-Ruiz2, Souvik Dubey3, Julián Benito-León4,5,6.   

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Year:  2022        PMID： 35486334     DOI： 10.1007/s10072-022-06095-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.830


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  45 in total

1.  Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene.

Authors:  Marta Leńska-Mieciek; Agnieszka Charzewska; Leszek Królicki; Dorota Hoffman-Zacharska; Zhefan Stephen Chen; Kwok-Fai Lau; Ho Yin Edwin Chan; Tomasz Gambin; Urszula Fiszer
Journal:  Mov Disord       Date:  2018-11-06       Impact factor: 10.338

2.  MR Imaging in Spinocerebellar Ataxias: A Systematic Review.

Authors:  A Klaes; E Reckziegel; M C Franca; T J R Rezende; L M Vedolin; L B Jardim; J A Saute
Journal:  AJNR Am J Neuroradiol       Date:  2016-05-12       Impact factor: 3.825

3.  Progressive dysphasic dementia with localized cerebral atrophy: report of an autopsy.

Authors:  K Kobayashi; M Kurachi; T Gyoubu; Y Fukutani; G Inao; I Nakamura; N Yamaguchi
Journal:  Clin Neuropathol       Date:  1990 Sep-Oct       Impact factor: 1.368

4.  Hypertrophic olivary degeneration and Purkinje cell degeneration in a case of long-standing head injury.

Authors:  J R Anderson; C S Treip
Journal:  J Neurol Neurosurg Psychiatry       Date:  1973-10       Impact factor: 10.154

5.  Olivary degeneration after cerebellar or brain stem haemorrhage: MRI.

Authors:  A Uchino; K Hasuo; K Uchida; S Matsumoto; Y Tsukamoto; M Ohno; K Masuda
Journal:  Neuroradiology       Date:  1993       Impact factor: 2.804

6.  A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Authors:  Ho Tsoi; Allen C S Yu; Zhefan S Chen; Nelson K N Ng; Anne Y Y Chan; Liz Y P Yuen; Jill M Abrigo; Suk Ying Tsang; Stephen K W Tsui; Tony M F Tong; Ivan F M Lo; Stephen T S Lam; Vincent C T Mok; Lawrence K S Wong; Jacky C K Ngo; Kwok-Fai Lau; Ting-Fung Chan; H Y Edwin Chan
Journal:  J Med Genet       Date:  2014-07-25       Impact factor: 5.941

7.  A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.

Authors:  Ashraf Yahia; Zhefan Stephen Chen; Ammar E Ahmed; Sara Emad; Rawaa Adil; Rayan Abubaker; Shaimaa Omer M A Taha; Mustafa A Salih; Liena Elsayed; Ho Yin Edwin Chan; Giovanni Stevanin
Journal:  BMC Neurol       Date:  2021-02-18       Impact factor: 2.474

8.  Spinocerebellar ataxia type 40: A case report and literature review.

Authors:  Fengyue Han; Dan Su; Chuanqiang Qu
Journal:  Transl Neurosci       Date:  2021-10-18       Impact factor: 1.757

9.  ClinVar: public archive of interpretations of clinically relevant variants.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Jeffrey Hoover; Wonhee Jang; Kenneth Katz; Michael Ovetsky; George Riley; Amanjeev Sethi; Ray Tully; Ricardo Villamarin-Salomon; Wendy Rubinstein; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2015-11-17       Impact factor: 16.971
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