Wolfram syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Wolfram syndrome" in English language version.

refsWebsite

Global rank English rank

72nih.gov

4^th place

39doi.org

2^nd place

8worldcat.org

5^th place

3medlineplus.gov

1,581^st place

1,299^th place

3harvard.edu

18^th place

17^th place

2nature.com

234^th place

397^th place

1diabetesjournals.org

low place

1handle.net

102^nd place

76^th place

1clevelandclinic.org

4,925^th place

3,597^th place

1mayoclinic.org

1,610^th place

1,279^th place

1diabetes.org.uk

low place

clevelandclinic.org

my.clevelandclinic.org

"Wolfram Syndrome".

diabetes.org.uk

"Diabetes mellitus". Diabetes UK. Retrieved 2024-08-01.

diabetesjournals.org

Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, et al. (2013-11-01). "Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation". Diabetes. 62 (11): 3943–3950. doi:10.2337/db13-0571. ISSN 0012-1797. PMC 3806620. PMID 23903355.

doi.org

Manaviat MR, Rashidi M, Mohammadi SM (December 2009). "Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports". Cases Journal. 2: 9355. doi:10.1186/1757-1626-2-9355. PMC 2804005. PMID 20062605.
Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
Pallotta MT, Tascini G, Crispoldi R, Orabona C, Mondanelli G, Grohmann U, et al. (July 2019). "Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives". Journal of Translational Medicine. 17 (1): 238. doi:10.1186/s12967-019-1993-1. PMC 6651977. PMID 31337416.
Cardona M, Ardila A, Gómez JD, Román-González A (2023-07-31). "Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump". AACE Clinical Case Reports. 9 (4): 125–127. doi:10.1016/j.aace.2023.05.002. PMC 10382610. PMID 37520764.
Delvecchio M, Iacoviello M, Pantaleo A, Resta N (2021-04-30). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. ISSN 1661-7827. PMC 8124476. PMID 33946243.
Rigoli L, Caruso V, Salzano G, Lombardo F (March 2022). "Wolfram Syndrome 1: From Genetics to Therapy". International Journal of Environmental Research and Public Health. 19 (6): 3225. doi:10.3390/ijerph19063225. PMC 8949990. PMID 35328914.
Alías L, López de Heredia M, Luna S, Clivillé N, González-Quereda L, Gallano P, et al. (2022-10-18). "Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness". Frontiers in Genetics. 13: 998898. doi:10.3389/fgene.2022.998898. PMC 9623256. PMID 36330437.
Delvecchio M, Iacoviello M, Pantaleo A, Resta N (April 2021). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. PMC 8124476. PMID 33946243.
Li L, Venkataraman L, Chen S, Fu H (November 2020). "Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's Disease". Neuroscience and Biobehavioral Reviews. 118: 775–783. doi:10.1016/j.neubiorev.2020.09.011. ISSN 0149-7634. PMC 7744320. PMID 32949681.
Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, et al. (January 2022). "Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum". International Journal of Environmental Research and Public Health. 19 (2): 835. doi:10.3390/ijerph19020835. PMC 8776149. PMID 35055657.
Delvecchio M, Iacoviello M, Pantaleo A, Resta N (April 2021). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. PMC 8124476. PMID 33946243.
Kumar J, Ahmed A, Khan M, Ahmed Y (July 2023). "There's More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient". Journal of Medical Cases. 14 (7): 265–269. doi:10.14740/jmc4128. PMC 10409535. PMID 37560547.
Barrett TG, Bundey SE, Macleod AF (December 1995). "Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome". Lancet. 346 (8988): 1458–1463. doi:10.1016/s0140-6736(95)92473-6. PMID 7490992.
Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, et al. (April 2004). "Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population". The Journal of Clinical Endocrinology and Metabolism. 89 (4): 1656–1661. doi:10.1210/jc.2002-030015. PMID 15070927.
Lombardo F, Salzano G, Di Bella C, Aversa T, Pugliatti F, Cara S, et al. (February 2014). "Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected". Journal of Endocrinological Investigation. 37 (2): 195–202. doi:10.1007/s40618-013-0039-4. PMID 24497219.
Boutzios G, Livadas S, Marinakis E, Opie N, Economou F, Diamanti-Kandarakis E (2011-08-01). "Endocrine and metabolic aspects of the Wolfram syndrome". Endocrine. 40 (1): 10–13. doi:10.1007/s12020-011-9505-y. ISSN 1559-0100. PMID 21725703.
Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, et al. (2012-07-11). "Early brain vulnerability in Wolfram syndrome". PLOS ONE. 7 (7): e40604. Bibcode:2012PLoSO...740604H. doi:10.1371/journal.pone.0040604. PMC 3394712. PMID 22792385.
Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, et al. (October 1998). "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)". Nature Genetics. 20 (2): 143–148. doi:10.1038/2441. ISSN 1061-4036. PMID 9771706.
Hansen L, Eiberg H, Barrett T, Bek T, Kjærsgaard P, Tranebjærg L, et al. (December 2005). "Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified". European Journal of Human Genetics. 13 (12): 1275–1284. doi:10.1038/sj.ejhg.5201491. ISSN 1018-4813. PMID 16151413.
Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, et al. (2013-11-01). "Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation". Diabetes. 62 (11): 3943–3950. doi:10.2337/db13-0571. ISSN 0012-1797. PMC 3806620. PMID 23903355.
Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, et al. (2022-01-12). "Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum". International Journal of Environmental Research and Public Health. 19 (2): 835. doi:10.3390/ijerph19020835. ISSN 1660-4601. PMC 8776149. PMID 35055657.
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, et al. (October 2007). "A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2". The American Journal of Human Genetics. 81 (4): 673–683. doi:10.1086/520961. PMC 2227919. PMID 17846994.
Galvez-Ruiz A, Galindo-Ferreiro A, Schatz P (2018-03-04). "Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON". Neuro-Ophthalmology. 42 (2): 73–82. doi:10.1080/01658107.2017.1344252. ISSN 0165-8107. PMC 5858862. PMID 29563951.
Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
Karzon R, Narayanan A, Chen L, Lieu JE, Hershey T (June 2018). "Longitudinal hearing loss in Wolfram syndrome". Orphanet Journal of Rare Diseases. 13 (1): 102. doi:10.1186/s13023-018-0852-0. PMC 6020390. PMID 29945639.
Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, et al. (March 2011). "Neurologic features and genotype-phenotype correlation in Wolfram syndrome". Annals of Neurology. 69 (3): 501–508. doi:10.1002/ana.22160. PMID 21446023.
de Heredia ML, Clèries R, Nunes V (July 2013). "Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype". Genetics in Medicine. 15 (7): 497–506. doi:10.1038/gim.2012.180. hdl:2445/47404. PMID 23429432.
Urano F (March 2014). "Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease". Diabetes. 63 (3): 844–846. doi:10.2337/db13-1809. PMC 3931391. PMID 24556864.
Fonseca SG, Fukuma M, Lipson KL, Nguyen LX, Allen JR, Oka Y, et al. (November 2005). "WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells". The Journal of Biological Chemistry. 280 (47): 39609–39615. doi:10.1074/jbc.M507426200. PMID 16195229.
Pallotta MT, Tascini G, Crispoldi R, Orabona C, Mondanelli G, Grohmann U, et al. (July 2019). "Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives". Journal of Translational Medicine. 17 (1): 238. doi:10.1186/s12967-019-1993-1. PMC 6651977. PMID 31337416.
Serbis A, Rallis D, Giapros V, Galli-Tsinopoulou A, Siomou E (February 2023). "Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective". International Journal of Molecular Sciences. 24 (4): 3690. doi:10.3390/ijms24043690. PMC 9960967. PMID 36835101.
Seppa K, Toots M, Reimets R, Jagomäe T, Koppel T, Pallase M, et al. (October 2019). "GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome". Scientific Reports. 9 (1): 15742. Bibcode:2019NatSR...915742S. doi:10.1038/s41598-019-52295-2. PMC 6823542. PMID 31673100.
Deacon CF (November 2020). "Dipeptidyl peptidase 4 inhibitors in the treatment of type 2 diabetes mellitus". Nature Reviews. Endocrinology. 16 (11): 642–653. doi:10.1038/s41574-020-0399-8. PMID 32929230.
Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, et al. (December 2014). "A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome". Proceedings of the National Academy of Sciences of the United States of America. 111 (49): E5292 – E5301. Bibcode:2014PNAS..111E5292L. doi:10.1073/pnas.1421055111. PMC 4267371. PMID 25422446.
Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, et al. (August 2021). "A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome". JCI Insight. 6 (15): e145188. doi:10.1172/jci.insight.145188. PMC 8410026. PMID 34185708.
La Valle A, Piccolo G, Maghnie M, d'Annunzio G (November 2021). "Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review". International Journal of Environmental Research and Public Health. 18 (22): 11994. doi:10.3390/ijerph182211994. PMC 8624443. PMID 34831749.
Barrett TG, Bundey SE (October 1997). "Wolfram (DIDMOAD) syndrome". Journal of Medical Genetics. 34 (10): 838–841. doi:10.1136/jmg.34.10.838. PMC 1051091. PMID 9350817.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, et al. (February 2022). "Metabolic Treatment of Wolfram Syndrome". International Journal of Environmental Research and Public Health. 19 (5): 2755. doi:10.3390/ijerph19052755. PMC 8910219. PMID 35270448.

handle.net

hdl.handle.net

de Heredia ML, Clèries R, Nunes V (July 2013). "Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype". Genetics in Medicine. 15 (7): 497–506. doi:10.1038/gim.2012.180. hdl:2445/47404. PMID 23429432.

harvard.edu

ui.adsabs.harvard.edu

Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, et al. (2012-07-11). "Early brain vulnerability in Wolfram syndrome". PLOS ONE. 7 (7): e40604. Bibcode:2012PLoSO...740604H. doi:10.1371/journal.pone.0040604. PMC 3394712. PMID 22792385.
Seppa K, Toots M, Reimets R, Jagomäe T, Koppel T, Pallase M, et al. (October 2019). "GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome". Scientific Reports. 9 (1): 15742. Bibcode:2019NatSR...915742S. doi:10.1038/s41598-019-52295-2. PMC 6823542. PMID 31673100.
Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, et al. (December 2014). "A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome". Proceedings of the National Academy of Sciences of the United States of America. 111 (49): E5292 – E5301. Bibcode:2014PNAS..111E5292L. doi:10.1073/pnas.1421055111. PMC 4267371. PMID 25422446.

mayoclinic.org

"Diabetes insipidus – Symptoms and causes". Mayo Clinic. Retrieved 2024-08-01.

medlineplus.gov

"Type 1 diabetes: MedlinePlus Genetics". Medline Plus. U.S. National Library of Medicine. Retrieved 2024-07-23.
"WFS1 gene: MedlinePlus Genetics". Medline Plus. U.S. National Library of Medicine. Retrieved 2024-07-23.
"CISD2 gene: MedlinePlus Genetics". Medline Plus. U.S. National Library of Medicine. Retrieved 2024-07-23.

nature.com

Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, et al. (October 1998). "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)". Nature Genetics. 20 (2): 143–148. doi:10.1038/2441. ISSN 1061-4036. PMID 9771706.
Hansen L, Eiberg H, Barrett T, Bek T, Kjærsgaard P, Tranebjærg L, et al. (December 2005). "Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified". European Journal of Human Genetics. 13 (12): 1275–1284. doi:10.1038/sj.ejhg.5201491. ISSN 1018-4813. PMID 16151413.

nih.gov

pubmed.ncbi.nlm.nih.gov

Manaviat MR, Rashidi M, Mohammadi SM (December 2009). "Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports". Cases Journal. 2: 9355. doi:10.1186/1757-1626-2-9355. PMC 2804005. PMID 20062605.
Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
Pallotta MT, Tascini G, Crispoldi R, Orabona C, Mondanelli G, Grohmann U, et al. (July 2019). "Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives". Journal of Translational Medicine. 17 (1): 238. doi:10.1186/s12967-019-1993-1. PMC 6651977. PMID 31337416.
Cardona M, Ardila A, Gómez JD, Román-González A (2023-07-31). "Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump". AACE Clinical Case Reports. 9 (4): 125–127. doi:10.1016/j.aace.2023.05.002. PMC 10382610. PMID 37520764.
Delvecchio M, Iacoviello M, Pantaleo A, Resta N (2021-04-30). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. ISSN 1661-7827. PMC 8124476. PMID 33946243.
Rigoli L, Caruso V, Salzano G, Lombardo F (March 2022). "Wolfram Syndrome 1: From Genetics to Therapy". International Journal of Environmental Research and Public Health. 19 (6): 3225. doi:10.3390/ijerph19063225. PMC 8949990. PMID 35328914.
Alías L, López de Heredia M, Luna S, Clivillé N, González-Quereda L, Gallano P, et al. (2022-10-18). "Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness". Frontiers in Genetics. 13: 998898. doi:10.3389/fgene.2022.998898. PMC 9623256. PMID 36330437.
Delvecchio M, Iacoviello M, Pantaleo A, Resta N (April 2021). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. PMC 8124476. PMID 33946243.
Li L, Venkataraman L, Chen S, Fu H (November 2020). "Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's Disease". Neuroscience and Biobehavioral Reviews. 118: 775–783. doi:10.1016/j.neubiorev.2020.09.011. ISSN 0149-7634. PMC 7744320. PMID 32949681.
Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, et al. (January 2022). "Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum". International Journal of Environmental Research and Public Health. 19 (2): 835. doi:10.3390/ijerph19020835. PMC 8776149. PMID 35055657.
Delvecchio M, Iacoviello M, Pantaleo A, Resta N (April 2021). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. PMC 8124476. PMID 33946243.
Kumar J, Ahmed A, Khan M, Ahmed Y (July 2023). "There's More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient". Journal of Medical Cases. 14 (7): 265–269. doi:10.14740/jmc4128. PMC 10409535. PMID 37560547.
Barrett TG, Bundey SE, Macleod AF (December 1995). "Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome". Lancet. 346 (8988): 1458–1463. doi:10.1016/s0140-6736(95)92473-6. PMID 7490992.
Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, et al. (April 2004). "Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population". The Journal of Clinical Endocrinology and Metabolism. 89 (4): 1656–1661. doi:10.1210/jc.2002-030015. PMID 15070927.
Lombardo F, Salzano G, Di Bella C, Aversa T, Pugliatti F, Cara S, et al. (February 2014). "Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected". Journal of Endocrinological Investigation. 37 (2): 195–202. doi:10.1007/s40618-013-0039-4. PMID 24497219.
Boutzios G, Livadas S, Marinakis E, Opie N, Economou F, Diamanti-Kandarakis E (2011-08-01). "Endocrine and metabolic aspects of the Wolfram syndrome". Endocrine. 40 (1): 10–13. doi:10.1007/s12020-011-9505-y. ISSN 1559-0100. PMID 21725703.
Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, et al. (2012-07-11). "Early brain vulnerability in Wolfram syndrome". PLOS ONE. 7 (7): e40604. Bibcode:2012PLoSO...740604H. doi:10.1371/journal.pone.0040604. PMC 3394712. PMID 22792385.
Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
Ito S, Sakakibara R, Hattori T (February 2007). "Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities". AJNR. American Journal of Neuroradiology. 28 (2): 305–306. PMC 7977398. PMID 17297000.
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, et al. (October 1998). "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)". Nature Genetics. 20 (2): 143–148. doi:10.1038/2441. ISSN 1061-4036. PMID 9771706.
Hansen L, Eiberg H, Barrett T, Bek T, Kjærsgaard P, Tranebjærg L, et al. (December 2005). "Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified". European Journal of Human Genetics. 13 (12): 1275–1284. doi:10.1038/sj.ejhg.5201491. ISSN 1018-4813. PMID 16151413.
Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, et al. (2013-11-01). "Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation". Diabetes. 62 (11): 3943–3950. doi:10.2337/db13-0571. ISSN 0012-1797. PMC 3806620. PMID 23903355.
Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, et al. (2022-01-12). "Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum". International Journal of Environmental Research and Public Health. 19 (2): 835. doi:10.3390/ijerph19020835. ISSN 1660-4601. PMC 8776149. PMID 35055657.
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, et al. (October 2007). "A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2". The American Journal of Human Genetics. 81 (4): 673–683. doi:10.1086/520961. PMC 2227919. PMID 17846994.
Galvez-Ruiz A, Galindo-Ferreiro A, Schatz P (2018-03-04). "Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON". Neuro-Ophthalmology. 42 (2): 73–82. doi:10.1080/01658107.2017.1344252. ISSN 0165-8107. PMC 5858862. PMID 29563951.
Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
Karzon R, Narayanan A, Chen L, Lieu JE, Hershey T (June 2018). "Longitudinal hearing loss in Wolfram syndrome". Orphanet Journal of Rare Diseases. 13 (1): 102. doi:10.1186/s13023-018-0852-0. PMC 6020390. PMID 29945639.
Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, et al. (March 2011). "Neurologic features and genotype-phenotype correlation in Wolfram syndrome". Annals of Neurology. 69 (3): 501–508. doi:10.1002/ana.22160. PMID 21446023.
de Heredia ML, Clèries R, Nunes V (July 2013). "Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype". Genetics in Medicine. 15 (7): 497–506. doi:10.1038/gim.2012.180. hdl:2445/47404. PMID 23429432.
Urano F (March 2014). "Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease". Diabetes. 63 (3): 844–846. doi:10.2337/db13-1809. PMC 3931391. PMID 24556864.
Fonseca SG, Fukuma M, Lipson KL, Nguyen LX, Allen JR, Oka Y, et al. (November 2005). "WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells". The Journal of Biological Chemistry. 280 (47): 39609–39615. doi:10.1074/jbc.M507426200. PMID 16195229.
Pallotta MT, Tascini G, Crispoldi R, Orabona C, Mondanelli G, Grohmann U, et al. (July 2019). "Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives". Journal of Translational Medicine. 17 (1): 238. doi:10.1186/s12967-019-1993-1. PMC 6651977. PMID 31337416.
Serbis A, Rallis D, Giapros V, Galli-Tsinopoulou A, Siomou E (February 2023). "Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective". International Journal of Molecular Sciences. 24 (4): 3690. doi:10.3390/ijms24043690. PMC 9960967. PMID 36835101.
Seppa K, Toots M, Reimets R, Jagomäe T, Koppel T, Pallase M, et al. (October 2019). "GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome". Scientific Reports. 9 (1): 15742. Bibcode:2019NatSR...915742S. doi:10.1038/s41598-019-52295-2. PMC 6823542. PMID 31673100.
Deacon CF (November 2020). "Dipeptidyl peptidase 4 inhibitors in the treatment of type 2 diabetes mellitus". Nature Reviews. Endocrinology. 16 (11): 642–653. doi:10.1038/s41574-020-0399-8. PMID 32929230.
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Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, et al. (August 2021). "A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome". JCI Insight. 6 (15): e145188. doi:10.1172/jci.insight.145188. PMC 8410026. PMID 34185708.
La Valle A, Piccolo G, Maghnie M, d'Annunzio G (November 2021). "Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review". International Journal of Environmental Research and Public Health. 18 (22): 11994. doi:10.3390/ijerph182211994. PMC 8624443. PMID 34831749.
Barrett TG, Bundey SE (October 1997). "Wolfram (DIDMOAD) syndrome". Journal of Medical Genetics. 34 (10): 838–841. doi:10.1136/jmg.34.10.838. PMC 1051091. PMID 9350817.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, et al. (February 2022). "Metabolic Treatment of Wolfram Syndrome". International Journal of Environmental Research and Public Health. 19 (5): 2755. doi:10.3390/ijerph19052755. PMC 8910219. PMID 35270448.

ncbi.nlm.nih.gov

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Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, et al. (December 2014). "A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome". Proceedings of the National Academy of Sciences of the United States of America. 111 (49): E5292 – E5301. Bibcode:2014PNAS..111E5292L. doi:10.1073/pnas.1421055111. PMC 4267371. PMID 25422446.
Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, et al. (August 2021). "A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome". JCI Insight. 6 (15): e145188. doi:10.1172/jci.insight.145188. PMC 8410026. PMID 34185708.
La Valle A, Piccolo G, Maghnie M, d'Annunzio G (November 2021). "Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review". International Journal of Environmental Research and Public Health. 18 (22): 11994. doi:10.3390/ijerph182211994. PMC 8624443. PMID 34831749.
Barrett TG, Bundey SE (October 1997). "Wolfram (DIDMOAD) syndrome". Journal of Medical Genetics. 34 (10): 838–841. doi:10.1136/jmg.34.10.838. PMC 1051091. PMID 9350817.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, et al. (February 2022). "Metabolic Treatment of Wolfram Syndrome". International Journal of Environmental Research and Public Health. 19 (5): 2755. doi:10.3390/ijerph19052755. PMC 8910219. PMID 35270448.

rarediseases.info.nih.gov

"Wolfram syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-07-26.
"Wolfram syndrome – About the Disease – Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-07-26.

worldcat.org

search.worldcat.org

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Li L, Venkataraman L, Chen S, Fu H (November 2020). "Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's Disease". Neuroscience and Biobehavioral Reviews. 118: 775–783. doi:10.1016/j.neubiorev.2020.09.011. ISSN 0149-7634. PMC 7744320. PMID 32949681.
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Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, et al. (2022-01-12). "Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum". International Journal of Environmental Research and Public Health. 19 (2): 835. doi:10.3390/ijerph19020835. ISSN 1660-4601. PMC 8776149. PMID 35055657.
Galvez-Ruiz A, Galindo-Ferreiro A, Schatz P (2018-03-04). "Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON". Neuro-Ophthalmology. 42 (2): 73–82. doi:10.1080/01658107.2017.1344252. ISSN 0165-8107. PMC 5858862. PMID 29563951.