Literature DB >> 27033294

Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.

Katharina Marie Steiner1, Johannes Brenck1, Sophia Goericke2, Dagmar Timmann1.   

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Year:  2016        PMID： 27033294      PMCID： PMC4840779          DOI： 10.1136/bcr-2016-214634

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  3 in total

1.  Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Authors:  Orit Neudorfer; Gregory M Pastores; Bai J Zeng; John Gianutsos; Charles M Zaroff; Edwin H Kolodny
Journal:  Genet Med       Date:  2005-02       Impact factor: 8.822

2.  The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

Authors:  R Myerowitz; F C Costigan
Journal:  J Biol Chem       Date:  1988-12-15       Impact factor: 5.157

3.  The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

Authors:  R Navon; R L Proia
Journal:  Science       Date:  1989-03-17       Impact factor: 47.728
  3 in total
  1 in total

1.  Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Authors:  Helena Jahnová; Helena Poupětová; Jitka Jirečková; Hana Vlášková; Eva Košťálová; Radim Mazanec; Alena Zumrová; Petr Mečíř; Zuzana Mušová; Martin Magner
Journal:  J Neurol       Date:  2019-05-10       Impact factor: 4.849
  1 in total

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