Literature DB >> 27351546

Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy.

M Liguori1, G Tagarelli2, N Romeo2, A Bagalà2, Patrizia Spadafora3.   

Abstract

Entities:  

Keywords:  Ataxia; Hexa gene; Juvenile-chronic onset; Psychosis; TSD; Tay Sachs

Mesh：

Year:  2016        PMID： 27351546     DOI： 10.1007/s10072-016-2646-2

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  4 in total

1.  Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Authors:  Anna Lisa E Montalvo; Mirella Filocamo; Kristian Vlahovicek; Andrea Dardis; Susanna Lualdi; Fabio Corsolini; Bruno Bembi; Maria Gabriela Pittis
Journal:  Hum Mutat       Date:  2005-09       Impact factor: 4.878

2.  Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

Authors:  A Levit; D Nutman; E Osher; E Kamhi; R Navon
Journal:  Mol Genet Metab       Date:  2010-03-19       Impact factor: 4.797

3.  Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

Authors:  R Navon; E H Kolodny; H Mitsumoto; G H Thomas; R L Proia
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

4.  Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Authors:  B H Paw; M M Kaback; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205
  4 in total
  1 in total

1.  The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Authors:  Darius Ebrahimi-Fakhari; Clara Hildebrandt; Peter E Davis; Lance H Rodan; Irina Anselm; Olaf Bodamer
Journal:  Mov Disord Clin Pract       Date:  2017-12-10
  1 in total

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