Literature DB >> 30398676

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

Marta Leńska-Mieciek1, Agnieszka Charzewska2, Leszek Królicki3, Dorota Hoffman-Zacharska2, Zhefan Stephen Chen4, Kwok-Fai Lau4, Ho Yin Edwin Chan4,5, Tomasz Gambin2, Urszula Fiszer1.   

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Year:  2018        PMID： 30398676     DOI： 10.1002/mds.27536

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  6 in total

1.  Spinocerebellar Ataxia 40: Another Etiology Underlying Essential Tremor Syndrome.

Authors:  Maziar Emamikhah; Sharmin Aghavali; Fatemeh Moghadas; Renato P Munhoz; Anthony E Lang; Afagh Alavi; Mohammad Rohani
Journal:  Mov Disord Clin Pract       Date:  2021-05-25

2.  Novel mutation for SCA40 with initial presentation as retinitis pigmentosa.

Authors:  Romana Perković; Lovro Hrvoić; Ivan Mandić; Anamarija Soldo Koruga; Silva Butković Soldo
Journal:  Acta Neurol Belg       Date:  2022-09-14       Impact factor: 2.471

Review 3.  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.

Authors:  Ritwik Ghosh; Moisés León-Ruiz; Souvik Dubey; Julián Benito-León
Journal:  Neurol Sci       Date:  2022-04-29       Impact factor: 3.830

4.  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

5.  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

6.  Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Authors:  Annie Laquerriere; Pascale Saugier-Veber; Florent Marguet; Myriam Vezain; Pascale Marcorelles; Séverine Audebert-Bellanger; Kévin Cassinari; Nathalie Drouot; Pascal Chambon; Bruno J Gonzalez; Arie Horowitz
Journal:  Acta Neuropathol Commun       Date:  2021-06-06       Impact factor: 7.801
  6 in total

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