𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study

✍ Scribed by D. Elstein; G. M. Doniger; E. Simon; I. Korn-Lubetzki; R. Navon; A. Zimran

Publisher
Springer
Year
2008
Tongue
English
Weight
248 KB
Volume
31
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two mutated HEXA alleles in a Druze pati
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease
✍ Liat Drucker; Jesaiachu Armand Hemli; Ruth Navon 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 1 views

Two affected HEXA alleles were found in an Israeli Druze Tay-Sachs child born to first-cousin parents. His paternal allele contained two adjacent changes in exon 5: a496C, which resulted in a frameshift and premature termination codon 96 nucleotides downstream, and 498CÃG, a silent mutation. The mat

Molecular analysis of the HEXA gene in I
Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles
✍ Anna Lisa E. Montalvo; Mirella Filocamo; Kristian Vlahoviček; Andrea Dardis; Sus 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 890 KB

Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the hexosaminidase A deficiency. We report the molecular characterization performed on 31 Italian patients, 22 with the infantile, acute form of TSD and nine patients with the subacute juvenile form, biochemically classified as B1

A glycine250 → aspartate substitution in
A glycine250 → aspartate substitution in the α-subunit of hexosaminidase a causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family
✍ Isabelle Trop; Feige Kaplan; Charlotte Brown; Don Mahuran; Peter Hechtman 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 407 KB 👁 1 views

The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described. An mRNA-containing extract of cultured fibroblasts obtained from one of the probands was used as a template to amplify the coding sequence of the hexoaminidase A (Hex A) a-subunit. Sequencing

Humour therapy in patients with late-lif
Humour therapy in patients with late-life depression or Alzheimer's disease: a pilot study
✍ Marc Walter; Beat Hänni; Myriam Haug; Isabelle Amrhein; Eva Krebs-Roubicek; Fran 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB 👁 2 views

## Abstract ## Background Of the disabling disorders of the elderly, depression is the most common affective disorder and Alzheimer's disease (AD) the most common neurodegenerative disorder. Pharmacological treatment strategies for these disorders are often accompanied with severe side effects. Th