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4p-syndrome,Wolfram syndrome相关文献:
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L, Bramanti P, Di Bella C, De Luca F.
Pediatr Res. 2018 May;83(5):921-929. doi: 10.1038/pr.2018.17. Epub 2018 Feb 28.
PMID:29774890
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
Safarpour Lima B, Ghaedi H, Daftarian N, Ahmadieh H, Jamshidi J, Khorrami M, Noroozi R, Sohrabifar N, Assarzadegan F, Hesami O, Taghavi S, Ahmadifard A, Atakhorrami M, Rahimi-Aliabadi S, Shahmohammadibeni N, Alehabib E, Andarva M, Darvish H, Emamalizadeh B.
Eur J Med Genet. 2016 Feb;59(2):65-9. doi: 10.1016/j.ejmg.2016.01.001. Epub 2016 Jan 7.
PMID:26773575
Current developments in Wolfram syndrome.
Ganie MA, Bhat D.
J Pediatr Endocrinol Metab. 2009 Jan;22(1):3-10. doi: 10.1515/jpem.2009.22.1.3.
PMID:19344068
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder.
Evans KL, Lawson D, Meitinger T, Blackwood DH, Porteous DJ.
Am J Med Genet. 2000 Apr 3;96(2):158-60.
PMID:10893488
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.
Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA, Bundey S.
Am J Hum Genet. 1996 Oct;59(4):855-63.
PMID:8808601
Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.
Gundogdu Ogutlu OB, Cayır A, Donmez AS, Koca SB, Yarali O, Demirbilek H.
Pediatr Diabetes. 2025 Oct 2;2025:8692152. doi: 10.1155/pedi/8692152. eCollection 2025.
PMID:41080637
Cognitive dysfunction in mitochondrial disorders.
Finsterer J.
Acta Neurol Scand. 2012 Jul;126(1):1-11. doi: 10.1111/j.1600-0404.2012.01649.x. Epub 2012 Feb 15.
PMID:22335339
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L, Bramanti P, Di Bella C, De Luca F.
Pediatr Res. 2018 Nov;84(5):787. doi: 10.1038/s41390-018-0146-1.
PMID:30171196
Wolfram syndrome in a family with variable expression.
Kadayifci A, Kepekci Y, Coskun Y, Huang Y.
Acta Medica (Hradec Kralove). 2001;44(3):115-8.
PMID:11811080
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA.
Nat Genet. 1998 Oct;20(2):143-8. doi: 10.1038/2441.
PMID:9771706
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