المساهمون: Constantin Polychronakos, Senior investigator

المصدر: Accurate Diagnosis of Diabetes for Appropriate Management

المصدر: A Phase II Study of Safety and Efficacy of AMX0035 in Adult Patients With Wolfram Syndrome

المصدر: International Tracking Neurodegeneration in Early Wolfram Syndrome

المصدر: A Pivotal, International, Randomised, Double-blind, Efficacy and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome

المؤلفون: American Diabetes Association, National Institutes of Health (NIH), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

المصدر: Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
Urano F. Wolfram Syndrome: Diagnosis, Management, and Treatment. Curr Diab Rep. 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6.

المؤلفون: Inbal Halabi, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Ilana Koren

المصدر: Frontiers in Pediatrics, Vol 13 (2025)

مصطلحات موضوعية: Wolfram syndrome, diabetes mellitus, optic atrophy, endoplasmic reticulum, type 1 diabetes mellitus, diabetic ketoacidosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2025.1525846/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/aa3130497f0348949749105a44c0266f

المؤلفون: Nabiha Khan, Muhammad Usama Ashraf, Sadia Khan, Allahdad Khan, Humna Shahzad, Mudasira Habib, Aseel Kamal

المصدر: Clinical Case Reports, Vol 13, Iss 1, Pp n/a-n/a (2025)

مصطلحات موضوعية: blindness, deafness, diabetes insipidus, diabetes mellitus, DIDMOAD, Wolfram syndrome, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/1aaa8bdabc6c4a359baf102848c29269

المساهمون: Lorenzo Piemonti, Principal Investigator

المصدر: Towards a Personalized Precision Medicine in Rare Disease: Tirzepatide (a Dual Glucose-dependent Insulinotropic Polypeptide and Glucagon-like Peptide-1 Receptor Agonist) Monotherapy in Patients With Wolfram Syndrome Type 1

المؤلفون: National Institutes of Health (NIH), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

المصدر: A Phase 1b/2a Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome
Urano F. Wolfram Syndrome: Diagnosis, Management, and Treatment. Curr Diab Rep. 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6.
Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, Brown CM, Kries K, Onwumere C, Gu H, Hoekel J, Tychsen L, Van Stavern GP, White NH, Marshall BA, Hershey T, Urano F. A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome. JCI Insight. 2021 Aug 9;6(15):e145188. doi: 10.1172/jci.insight.145188.

المؤلفون: K. Ahuja, M. Vandenabeele, F. Nami, E. Lefevere, J. Van hoecke, S. Bergmans, M. Claes, T. Vervliet, K. Neyrinck, T. Burg, D. De Herdt, P. Bhaskar, Y. Zhu, Z. J. Looser, J. Loncke, W. Gsell, M. Plaas, P. Agostinis, J. V. Swinnen, L. Van Den Bosch, G. Bultynck, A. S. Saab, E. Wolfs, Y. C. Chai, U. Himmelreich, C. Verfaillie, L. Moons, L. De Groef

المصدر: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Wolfram syndrome, Oligodendrocytes, Neurodegeneration, iPSC model, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/1fc5ac8a195045e784ceddeab1da8565

المؤلفون: Genethon

المصدر: AUDIOWOLF: A Phase II, Open-label, Efficacy Study of Daily Administration of Sodium Valproate in Patients Clinically Affected by Wolfram Syndrome Due to Monogenic Mutation.

المؤلفون: Carolina Paniago Lopes, Gentil Ferreira Gonçalves Neto, Maria Fernanda Vanti Macedo Paulino, Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Elizabeth João Pavin, Ikaro Soares Santos Breder, Mariana Zorron Mei Hsia Pu, Sofia Helena Valente de Lemos-Marini, Gil Guerra Junior

المصدر: Archives of Endocrinology and Metabolism, Vol 68 (2024)

مصطلحات موضوعية: Wolfram syndrome, wolframin, WFS1, CISD2, diabetes mellitus, diabetes insipidus, Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972024000100365&lng=en&tlng=en; http://www.scielo.br/pdf/aem/v68/2359-4292-aem-68-e240091.pdf; https://doaj.org/toc/2359-4292

URL الوصول: https://doaj.org/article/cbf3da5adedf4723adfdf888d2ce1a13

المؤلفون: Takahide Kokumai, Shigeru Suzuki, Noriko Nishikawa, Hinako Yamamura, Tokuo Mukai, Yusuke Tanahashi, Satoru Takahashi

المصدر: JCRPE, Vol 16, Iss 1, Pp 102-105 (2024)

مصطلحات موضوعية: wolfram syndrome, type 1b diabetes mellitus, ophthalmologic screening, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-27676; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/fc087e5fee544cfdaf0cab44501068bb

المؤلفون: Mohammed R. Naqeeb, Dina M Abdulmannan

المصدر: Majalah Kedokteran Bandung, Vol 56, Iss 1, Pp 69-72 (2024)

مصطلحات موضوعية: atrophy, optic nerve, wolfram syndrome, saudi arabia, Medicine

وصف الملف: electronic resource

Relation: https://journal.fk.unpad.ac.id/index.php/mkb/article/view/3334; https://doaj.org/toc/0126-074X; https://doaj.org/toc/2338-6223

URL الوصول: https://doaj.org/article/4069de8c7a5c48dba8f9bdfafc86c2c7

المؤلفون: Saha, Suchismita, Sinha, Rajiv

المصدر: Pediatric Nephrology; Nov2024, Vol. 39 Issue 11, p3209-3211, 3p

مصطلحات موضوعية: OPTIC nerve diseases, DIABETES insipidus, URODYNAMICS, WOLFRAM syndrome, DESMOPRESSIN, CHRONIC kidney failure, BLADDER, POLYURIA, URINATION disorders, EARLY diagnosis, DIABETES, POLYDIPSIA, DISEASE risk factors, SYMPTOMS, CHILDREN

المؤلفون: Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Rulai Han, Lei Ye, Yifei Zhang, Jie Hong, Weiqing Wang, Guang Ning, Weiqiong Gu

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: WFS1 gene, Wolfram syndrome-like disorders (WSLD), ACMG classification, functional analysis, whole-exome sequencing (WES), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1433060/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ce5c793a14e54f4d9c3dc7a832237736

المؤلفون: Annamneedi, Sree Bhagya Lekha^{1, 1}, Sorra, Abhiram¹, Mugada, Vinod Kumar¹, Yarguntla, Srinivasa Rao²

المصدر: Research Journal of Pharmacology and Pharmacodynamics 15(4):172-178. 2023

المؤلفون: Valerio Caruso, Luciana Rigoli

المصدر: Biomolecules, Vol 14, Iss 11, p 1389 (2024)

مصطلحات موضوعية: WFS1 gene, Wolfram syndrome 1, Alzheimer’s disease, neuropsychiatric disorders, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/11/1389; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/b2317c82db3840fa9e92ead7d50afc71

المؤلفون: Zi-Jie Chen, Yu-Kai Mao, Ning Fan, Yan-Fen Hong, Xu-Yang Liu

المصدر: Guoji Yanke Zazhi, Vol 23, Iss 11, Pp 1930-1934 (2023)

مصطلحات موضوعية: wolfram syndrome, wfs1 gene, genetic analysis, mutation, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://ies.ijo.cn/cn_publish/2023/11/202311032.pdf; https://doaj.org/toc/1672-5123

URL الوصول: https://doaj.org/article/b63f8a17a25c4e1a8397e8459297e5f9

المؤلفون: Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat, Yanying Guo

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Wolfram syndrome, WFS1 gene, Diabetic mellitus, Genetic testing, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/409f2af6c2624686b6e701cc8648f312