Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

× No keyword cloud information.

5 in total

1. Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.

Authors: Luba M Pardo; Giovanna Piras; Rosanna Asproni; Kristiaan J van der Gaag; Attilio Gabbas; Andres Ruiz-Linares; Peter de Knijff; Maria Monne; Patrizia Rizzu; Peter Heutink
Journal: Eur J Hum Genet Date: 2012-02-29 Impact factor: 4.246

2. Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

Authors: D Wallon; L Guyant-Maréchal; A Laquerrière; R A Wevers; O Martinaud; L A J Kluijtmans; H G Yntema; P Saugier-Veber; D Hannequin
Journal: Clin Neuropathol Date: 2010 Nov-Dec Impact factor: 1.368

Review 3. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Authors: G N Gallus; M T Dotti; A Federico
Journal: Neurol Sci Date: 2006-06 Impact factor: 3.307

4. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

Authors: J J Cali; C L Hsieh; U Francke; D W Russell
Journal: J Biol Chem Date: 1991-04-25 Impact factor: 5.157

5. Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin.

Authors: V M Berginer; D Abeliovich
Journal: Am J Med Genet Date: 1981

5 in total

1 in total

Review 1. Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Authors: Janice C Wong; Kailey Walsh; Douglas Hayden; Florian S Eichler
Journal: J Inherit Metab Dis Date: 2018-02-26 Impact factor: 4.982

1 in total