These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 23445347)

  • 1. Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency.
    Rossato M; Mariotti C
    Andrologia; 2014 Apr; 46(3):322-4. PubMed ID: 23445347
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Friedreich's ataxia and hereditary vitamin E deficiency. Case study].
    Labauge P; Cavalier L; Ichalalène L; Castelnovo G
    Rev Neurol (Paris); 1998 May; 154(4):339-41. PubMed ID: 9773063
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene.
    Iwasa K; Shima K; Komai K; Nishida Y; Yokota T; Yamada M
    J Neurol Sci; 2014 Oct; 345(1-2):228-30. PubMed ID: 25066259
    [TBL] [Abstract][Full Text] [Related]  

  • 4. First case of ataxia with isolated vitamin E deficiency in the Netherlands.
    Ponten SC; Kwee ML; Wolters ECh; Zijlmans JC
    Parkinsonism Relat Disord; 2007 Jul; 13(5):315-6. PubMed ID: 17049453
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ataxia with vitamin E deficiency associated with deafness.
    Kara B; Uzümcü A; Uyguner O; Rosti RO; Koçbaş A; Ozmen M; Kayserili H
    Turk J Pediatr; 2008; 50(5):471-5. PubMed ID: 19102053
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cerebellar ataxia due to isolated vitamin E deficiency.
    Jayaram S; Soman A; Tarvade S; Londhe V
    Indian J Med Sci; 2005 Jan; 59(1):20-3. PubMed ID: 15681888
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.
    Hentati A; Deng HX; Hung WY; Nayer M; Ahmed MS; He X; Tim R; Stumpf DA; Siddique T; Ahmed
    Ann Neurol; 1996 Mar; 39(3):295-300. PubMed ID: 8602747
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.
    Marzouki N; Benomar A; Yahyaoui M; Birouk N; Elouazzani M; Chkili T; Benlemlih M
    Eur J Med Genet; 2005; 48(1):21-8. PubMed ID: 15953402
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
    Ouahchi K; Arita M; Kayden H; Hentati F; Ben Hamida M; Sokol R; Arai H; Inoue K; Mandel JL; Koenig M
    Nat Genet; 1995 Feb; 9(2):141-5. PubMed ID: 7719340
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
    Mariotti C; Gellera C; Rimoldi M; Mineri R; Uziel G; Zorzi G; Pareyson D; Piccolo G; Gambi D; Piacentini S; Squitieri F; Capra R; Castellotti B; Di Donato S
    Neurol Sci; 2004 Jul; 25(3):130-7. PubMed ID: 15300460
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein.
    Qian J; Atkinson J; Manor D
    Biochemistry; 2006 Jul; 45(27):8236-42. PubMed ID: 16819822
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.
    Gotoda T; Arita M; Arai H; Inoue K; Yokota T; Fukuo Y; Yazaki Y; Yamada N
    N Engl J Med; 1995 Nov; 333(20):1313-8. PubMed ID: 7566022
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.
    Fernández-Burriel M; Martínez-Rubio D; Lupo V; Pérez-Colosía V; Piñán-López E; Palau F; Espinós C
    Pediatr Res; 2008 Sep; 64(3):262-4. PubMed ID: 18458655
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ataxia with vitamin E deficiency and severe dystonia: report of a case.
    Roubertie A; Biolsi B; Rivier F; Humbertclaude V; Cheminal R; Echenne B
    Brain Dev; 2003 Sep; 25(6):442-5. PubMed ID: 12907280
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.
    El Euch-Fayache G; Bouhlal Y; Amouri R; Feki M; Hentati F
    Brain; 2014 Feb; 137(Pt 2):402-10. PubMed ID: 24369383
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.
    Schuelke M; Mayatepek E; Inter M; Becker M; Pfeiffer E; Speer A; Hübner C; Finckh B
    J Pediatr; 1999 Feb; 134(2):240-4. PubMed ID: 9931538
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Ataxia due to vitamin E deficiency].
    Gjerde IO; Storstein A; Skeie GO; Wester K; Hegrestad S; Houge G
    Tidsskr Nor Laegeforen; 1998 Aug; 118(20):3126-8. PubMed ID: 9760855
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular determinants of heritable vitamin E deficiency.
    Morley S; Panagabko C; Shineman D; Mani B; Stocker A; Atkinson J; Manor D
    Biochemistry; 2004 Apr; 43(14):4143-9. PubMed ID: 15065857
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive cerebellar ataxias.
    Palau F; Espinós C
    Orphanet J Rare Dis; 2006 Nov; 1():47. PubMed ID: 17112370
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Alpha-tocopherol transfer protein deficiency in mice causes multi-organ deregulation of gene networks and behavioral deficits with age.
    Gohil K; Godzdanker R; O'Roark E; Schock BC; Kaini RR; Packer L; Cross CE; Traber MG
    Ann N Y Acad Sci; 2004 Dec; 1031():109-26. PubMed ID: 15753139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.