Literature DB >> 27021565

Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation.

Giuseppe Zelante1, Francesco Patti1, Luisa Vinciguerra1, Cinzia Gellera2, Mario Zappia3.   

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Year:  2016        PMID： 27021565     DOI： 10.1007/s10072-016-2561-6

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


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  5 in total

1.  Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.

Authors:  U Aguglia; G Annesi; G Pasquinelli; P Spadafora; A Gambardella; F Annesi; A A Pasqua; F Cavalcanti; L Crescibene; A Bagalà; F Bono; R L Oliveri; P Valentino; M Zappia; A Quattrone
Journal:  Ann Neurol       Date:  2000-02       Impact factor: 10.422

2.  Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Authors:  L Cavalier; K Ouahchi; H J Kayden; S Di Donato; L Reutenauer; J L Mandel; M Koenig
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

3.  Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.

Authors:  Naima Marzouki; Ali Benomar; Mohamed Yahyaoui; Nezha Birouk; Mohamed Elouazzani; Taib Chkili; Mohamed Benlemlih
Journal:  Eur J Med Genet       Date:  2005-02-19       Impact factor: 2.708

Review 4.  Ataxia with vitamin E deficiency: update of molecular diagnosis.

Authors:  I Di Donato; S Bianchi; A Federico
Journal:  Neurol Sci       Date:  2010-05-13       Impact factor: 3.307

5.  Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Authors:  C Mariotti; C Gellera; M Rimoldi; R Mineri; G Uziel; G Zorzi; D Pareyson; G Piccolo; D Gambi; S Piacentini; F Squitieri; R Capra; B Castellotti; S Di Donato
Journal:  Neurol Sci       Date:  2004-07       Impact factor: 3.307
  5 in total

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