Condition: Ataxia with vitamin E deficiency


rs121917849 in TTPA gene and Ataxia with vitamin E deficiency PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 15300460 2004 Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

PMID 15065857 2004 Molecular determinants of heritable vitamin E deficiency.

PMID 9463307 1998 Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

PMID 7566022 1995 Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

PMID 8602747 1996 Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 12470185 2002 A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.

PMID 24369383 2014 Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

PMID 12899840 2003 The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein.

PMID 22696689 2011 Epilepsy in a patient with ataxia caused by vitamin E deficiency.

PMID 19566498 2009 Ataxia with vitamin E deficiency in southeast Norway, case report.

PMID 25614784 2015 Ataxia with vitamin e deficiency in norway.

PMID 18458655 2008 A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

PMID 12039660 2002 Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

PMID 15953402 2005 Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.

PMID 7719340 1995 Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

PMID 26068213 2015 Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

PMID 12907280 2003 Ataxia with vitamin E deficiency and severe dystonia: report of a case.

PMID 12112220 2002 Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

PMID 23445347 2014 Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency.

PMID 11013295 2000 Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients.

PMID 9588854 1998 Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.

PMID 10360777 1999 Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.

PMID 3837850 1985 Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells?