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Page 1
Wolfram syndrome: Portuguese research.
Ferreras C, Gorito V, Pedro J, Ferreira S, Costa C, Santos Silva R, Castro Correia C. Ferreras C, et al. Endokrynol Pol. 2021;72(4):353-356. doi: 10.5603/EP.a2021.0038. Epub 2021 May 19. Endokrynol Pol. 2021. PMID: 34010437 Free article.
INTRODUCTION: Wolfram syndrome (WFS) is a neurological and endocrinological degenerative disorder, also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness) syndrome. It is an autosomal recessive disorder, mos …
INTRODUCTION: Wolfram syndrome (WFS) is a neurological and endocrinological degenerative disorder, also known as DIDMOAD (Diab …
Taste and smell function in Wolfram syndrome.
Alfaro R, Doty T, Narayanan A, Lugar H, Hershey T, Pepino MY. Alfaro R, et al. Orphanet J Rare Dis. 2020 Feb 22;15(1):57. doi: 10.1186/s13023-020-1335-7. Orphanet J Rare Dis. 2020. PMID: 32087739 Free PMC article.
BACKGROUND: Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration. ...RESULTS: Smell sensitivity was not significantly different among groups; however, smell iden …
BACKGROUND: Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, senso …
Sleep disturbances in Wolfram syndrome.
Licis A, Davis G, Eisenstein SA, Lugar HM, Hershey T. Licis A, et al. Orphanet J Rare Dis. 2019 Aug 2;14(1):188. doi: 10.1186/s13023-019-1160-z. Orphanet J Rare Dis. 2019. PMID: 31375124 Free PMC article.
Our goal was to assess rates of sleep apnea and objective and self-reported measures of sleep quality, and to determine the relationship of sleep pathology to other clinical variables in Wolfram syndrome patients. METHODS: Genetically confirmed Wolfram syn …
Our goal was to assess rates of sleep apnea and objective and self-reported measures of sleep quality, and to determine the relationship of …
Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.
O'Bryhim BE, Samara A, Chen L, Hershey T, Tychsen L, Hoekel J. O'Bryhim BE, et al. Am J Ophthalmol. 2022 Nov;243:10-18. doi: 10.1016/j.ajo.2022.07.003. Epub 2022 Jul 16. Am J Ophthalmol. 2022. PMID: 35850251
PURPOSE: To report long-term ophthalmic findings in Wolfram syndrome, including rates of visual decline, macular thinning, retinal nerve fiber layer (RNFL) thinning, and outer plexiform layer (OPL) lamination. ...CONCLUSIONS: Our study describes the longest and larg …
PURPOSE: To report long-term ophthalmic findings in Wolfram syndrome, including rates of visual decline, macular thinning, ret …
The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome.
Morikawa S, Urano F. Morikawa S, et al. Int J Mol Sci. 2022 Dec 23;24(1):230. doi: 10.3390/ijms24010230. Int J Mol Sci. 2022. PMID: 36613674 Free PMC article. Review.
Moreover, we describe new treatment methods targeting protein folding and ER stress pathways with a particular focus on pivotal studies of Wolfram syndrome, a monogenic form of syndromic diabetes caused by pathogenic variants in the WFS1 gene, which also leads to ER …
Moreover, we describe new treatment methods targeting protein folding and ER stress pathways with a particular focus on pivotal studies of …
beta-cyclodextrin based nano gene delivery using pharmaceutical applications to treat Wolfram syndrome.
Quintas PC, Al-Salami H, Pfaff A, Li D, Koks S. Quintas PC, et al. Ther Deliv. 2022 Sep;13(9):449-462. doi: 10.4155/tde-2022-0036. Epub 2023 Feb 7. Ther Deliv. 2022. PMID: 36748654 Review.
Wolfram syndrome is a rare multisystem autosomal recessive neurodegenerative disorder that affects the brain and central nervous system. Currently, there is no cure or treatment for Wolfram syndrome. Therefore, new techniques are needed to target the l …
Wolfram syndrome is a rare multisystem autosomal recessive neurodegenerative disorder that affects the brain and central nervo …
Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry.
Lugar HM, Koller JM, Rutlin J, Eisenstein SA, Neyman O, Narayanan A, Chen L, Shimony JS, Hershey T. Lugar HM, et al. Sci Rep. 2019 Apr 12;9(1):6010. doi: 10.1038/s41598-019-42447-9. Sci Rep. 2019. PMID: 30979932 Free PMC article.
Wolfram syndrome is a rare disease caused by mutations in the WFS1 gene leading to symptoms in early to mid-childhood. ...These patterns suggest that there may be early, stalled white matter development in Wolfram syndrome, with additional degenerative …
Wolfram syndrome is a rare disease caused by mutations in the WFS1 gene leading to symptoms in early to mid-childhood. ...Thes …
Psychiatric disorders and mutations at the Wolfram syndrome locus.
Swift M, Swift RG. Swift M, et al. Biol Psychiatry. 2000 May 1;47(9):787-93. doi: 10.1016/s0006-3223(00)00244-4. Biol Psychiatry. 2000. PMID: 10812037 Review.
Molecular genotyping of blood relatives of Wolfram syndrome patients has shown that Wolfram syndrome heterozygotes are 26-fold more likely than noncarriers to have a psychiatric hospitalization. ...Many other behavioral and cognitive difficulties also …
Molecular genotyping of blood relatives of Wolfram syndrome patients has shown that Wolfram syndrome heterozygot …
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.
Wragg R, Dias RP, Barrett T, McCarthy L. Wragg R, et al. J Pediatr Surg. 2018 Feb;53(2):321-325. doi: 10.1016/j.jpedsurg.2017.11.025. Epub 2017 Nov 14. J Pediatr Surg. 2018. PMID: 29277467 Free article.
AIM: Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). ...Data were expressed as median (interquartile range). MAIN RESULTS: Forty patients with Wolfram syndrome were identified, and 38 underwent NIU. This showed normal bladder function …
AIM: Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). ...Data were expressed as median (interquartile range). …
134 results