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Literature DB >> 31965302

[Bilateral optic nerve atrophy in an 18-year-old female patient with diabetes mellitus].

Jonathan Hall¹, Teresa Neuhann², Felix Treumer³, Thomas Neuhann⁴, Irmingard Neuhann⁴.

Abstract

Entities: Disease Species

Mesh：

Year: 2020 PMID： 31965302 DOI： 10.1007/s00347-019-01037-w

Source DB: PubMed Journal: Ophthalmologe ISSN： 0941-293X Impact factor: 1.059

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References

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13 in total

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

Authors: H Inoue; Y Tanizawa; J Wasson; P Behn; K Kalidas; E Bernal-Mizrachi; M Mueckler; H Marshall; H Donis-Keller; P Crock; D Rogers; M Mikuni; H Kumashiro; K Higashi; G Sobue; Y Oka; M A Permutt
Journal: Nat Genet Date: 1998-10 Impact factor: 38.330

2. Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

Authors: F C Fraser; T Gunn
Journal: J Med Genet Date: 1977-06 Impact factor: 6.318

3. Morbidity and mortality in the Wolfram syndrome.

Authors: B T Kinsley; M Swift; R H Dumont; R G Swift
Journal: Diabetes Care Date: 1995-12 Impact factor: 19.112

4. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation.

Authors: M al-Sheyyab; N Jarrah; E Younis; M M Shennak; A Hadidi; A Awidi; H el-Shanti; K Ajlouni
Journal: Eur J Pediatr Date: 2001-04 Impact factor: 3.183

5. WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells.

Authors: Takahiro Yamada; Hisamitsu Ishihara; Akira Tamura; Rui Takahashi; Suguru Yamaguchi; Daisuke Takei; Ai Tokita; Chihiro Satake; Fumi Tashiro; Hideki Katagiri; Hiroyuki Aburatani; Jun-ichi Miyazaki; Yoshitomo Oka
Journal: Hum Mol Genet Date: 2006-03-28 Impact factor: 6.150

[Bilateral optic nerve atrophy in an 18-year-old female patient with diabetes mellitus].

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

2. Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

3. Morbidity and mortality in the Wolfram syndrome.

4. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation.

5. WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells.

6. Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications.

Review 7. Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.

8. Psychiatric findings in Wolfram syndrome homozygotes.

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

Review 10. Wolfram Syndrome: Diagnosis, Management, and Treatment.