WFS1/wolframin mutations, Wolfram syndrome, and associated diseases (Q56803820)

7 January 2021

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

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7 January 2021

The mitochondrial genome in Wolfram syndrome

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7 January 2021

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

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7 January 2021

Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution

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7 January 2021

Wolfram syndrome: a mitochondrial-mediated disorder?

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7 January 2021

Mitochondrial abnormalities in the DIDMOAD syndrome

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7 January 2021

Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans

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7 January 2021

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

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7 January 2021

Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

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7 January 2021

A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases

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7 January 2021

The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2.

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7 January 2021

Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1).

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7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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7 January 2021

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

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7 January 2021

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes

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7 January 2021

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

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7 January 2021

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

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7 January 2021

Morbidity and mortality in the Wolfram syndrome

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7 January 2021

Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene.

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7 January 2021

Evidence for linkage of postchallenge insulin levels with intestinal fatty acid-binding protein (FABP2) in Mexican-Americans.

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7 January 2021

Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification

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7 January 2021

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family.

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7 January 2021

WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder

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7 January 2021

Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

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7 January 2021

Linkage of chromosomal markers on 4q with a putative gene determining maximal insulin action in Pima Indians

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7 January 2021

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

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7 January 2021

Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.

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7 January 2021

Evidence of widespread axonal pathology in Wolfram syndrome

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7 January 2021

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

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7 January 2021

Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.

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7 January 2021

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

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7 January 2021

Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases

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7 January 2021