Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome

Hershey T(2012)Washington University Wolfram Study, G.: early brain vulnerability in Wolfram syndrome PloS ONE 7 667-669

Lugar HM(1990)Psychiatric findings in Wolfram syndrome homozygotes Lancet 336 1201-1204

Shimony JS(2015)Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up Journal of Pediatric Surgery 50 7499-7505

Rutlin J(2014)Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families Mol. Biol. Rep. 41 143-148

Koller JM(1998)A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat. Genet. 20 2021-2028

Perantie DC(1998)Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein Hum. Mol. Genet 7 10-13

Paciorkowski AR(2011)Endocrine and metabolic aspects of the Wolfram syndrome Endocrine 40 213-230

Eisenstein SA(2009)Wolfram syndrome 1 (Wfs1) mRNA expression in the normal mouse brain during postnatal development Neurosci. Res. 64 1989-1998

Permutt MA(2016)WFS1 in optic neuropathies: mutation findings in nonsyndromic optic atrophy and assessment of clinical severity Ophthalmology 123 309-313

Swift RG(2013)Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms Gene 528 463-466

Hershey T(2012)Washington University Wolfram Study, G.: early brain vulnerability in Wolfram syndrome PloS ONE 7 667-669

Lugar HM(1990)Psychiatric findings in Wolfram syndrome homozygotes Lancet 336 1201-1204

Shimony JS(2015)Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up Journal of Pediatric Surgery 50 7499-7505

Rutlin J(2014)Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families Mol. Biol. Rep. 41 143-148

Koller JM(1998)A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat. Genet. 20 2021-2028

Perantie DC(1998)Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein Hum. Mol. Genet 7 10-13

Paciorkowski AR(2011)Endocrine and metabolic aspects of the Wolfram syndrome Endocrine 40 213-230

Eisenstein SA(2009)Wolfram syndrome 1 (Wfs1) mRNA expression in the normal mouse brain during postnatal development Neurosci. Res. 64 1989-1998

Permutt MA(2016)WFS1 in optic neuropathies: mutation findings in nonsyndromic optic atrophy and assessment of clinical severity Ophthalmology 123 309-313

Swift RG(2013)Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms Gene 528 463-466