Works matching DE "WOLFRAM syndrome"

Results: 106

Fluoxetine and aripiprazole treatment for OCD in a child with Wolfram syndrome.

Published in:

2013

By:

Sertcelik, Mehmet;
Gurkan, Cihat Kagan

Publication type:

Abstract

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies.

Published in:

2018

By:

Toppings, N. B.;
McMillan, J. M.;
Au, P. Y. B.;
Suchowersky, O.;
Donovan, L. E.

Publication type:

Case Study

Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice.

Published in:

Frontiers in Molecular Neuroscience, 2015, v. 8, p. 1, doi. 10.3389/fnmol.2015.00045

By:

Tein, Karin;
Kasvandik, Sergo;
Kõks, Sulev;
Vasar, Eero;
Terasmaa, Anton

Publication type:

Article

Previously unreported abnormalities in Wolfram Syndrome Type 2.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2017, v. 23, n. 2, p. 107, doi. 10.18544/PEDM-23.02.0081

By:

Akturk, Halis Kaan;
Yasa, Seda

Publication type:

Article

Wolfram Syndrome. Case report.

Published in:

2016

By:

Tarała, Wojciech;
Drachal, Elzbieta;
Mazur, Artur;
Korczowski, Bartosz;
Szadkowska, Agnieszka;
Zmysłowska, Agnieszka;
Młynarski, Wojciech

Publication type:

Case Study

Longitudinal hearing loss in Wolfram syndrome.

Published in:

2018

By:

Karzon, Roanne;
Narayanan, Anagha;
Chen, Ling;
Lieu, Judith E. C.;
Hershey, Tamara

Publication type:

journal article

OCTA in neurodegenerative optic neuropathies: emerging biomarkers at the eye–brain interface.

Published in:

Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420950508

By:

Asanad, Samuel;
Mohammed, Isa;
Sadun, Alfredo A.;
Saeedi, Osamah J.

Publication type:

Article

Síndrome de Wolfram y trastornos psiquiátricos: A propósito de un caso.

Published in:

2014

By:

Ferreira Frías, M. P.;
Geijo Uribe, M. S.;
Ímaz Roncero, C.;
Sotelo Martín, E.;
Vásquez Cornieles, E.

Publication type:

Case Study

Mania in Wolfram's Disease: From Bedside to Bench.

Published in:

2017

By:

Chatterjee, Seshadri Sekhar;
Mitra, Sayantanava;
Pal, Salil Kumar

Publication type:

Case Study

IRE1 prevents endoplasmic reticulum membrane permeabilization and cell death under pathological conditions.

Published in:

Science Signaling, 2015, v. 8, n. 382, p. 1

By:

Zhu, Lihua J.;
Kohsuke Kanekura;
Fumihiko Urano;
Xiucui Ma;
Murphy, John T.;
Diwan, Abhinav

Publication type:

Article

Central Nervous System PET-CT Imaging Reveals Regional Impairments in Pediatric Patients with Wolfram Syndrome.

Published in:

PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115605

By:

Zmyslowska, Agnieszka;
Malkowski, Bogdan;
Fendler, Wojciech;
Borowiec, Maciej;
Antosik, Karolina;
Gnys, Piotr;
Baranska, Dobromila;
Mlynarski, Wojciech

Publication type:

Article

Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106906

By:

Matsunaga, Kimie;
Tanabe, Katsuya;
Inoue, Hiroshi;
Okuya, Shigeru;
Ohta, Yasuharu;
Akiyama, Masaru;
Taguchi, Akihiko;
Kora, Yukari;
Okayama, Naoko;
Yamada, Yuichiro;
Wada, Yasuhiko;
Amemiya, Shin;
Sugihara, Shigetaka;
Nakao, Yuzo;
Oka, Yoshitomo;
Tanizawa, Yukio

Publication type:

Article

Impairment of Visual Function and Retinal ER Stress Activation in <i>Wfs1</i>-Deficient Mice.

Published in:

PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097222

By:

Bonnet Wersinger, Delphine;
Benkafadar, Nesrine;
Jagodzinska, Jolanta;
Hamel, Christian;
Tanizawa, Yukio;
Lenaers, Guy;
Delettre, Cécile

Publication type:

Article

Early Brain Vulnerability in Wolfram Syndrome.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040604

By:

Hershey, Tamara;
Lugar, Heather M.;
Shimony, Joshua S.;
Rutlin, Jerrel;
Koller, Jonathan M.;
Perantie, Dana C.;
Paciorkowski, Alex R.;
Eisenstein, Sarah A.;
Alan Permutt, M.

Publication type:

Article

Wolfram Syndrome: New Mutations, Different Phenotype.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029150

By:

Aloi, Concetta;
Salina, Alessandro;
Pasquali, Lorenzo;
Lugani, Francesca;
Perri, Katia;
Russo, Chiara;
Tallone, Ramona;
Ghiggeri, Gian Marco;
Lorini, Renata;
d'Annunzio, Giuseppe

Publication type:

Article

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

Published in:

Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0076-4

By:

Ghirardello, Stefano;
Dusi, Elisa;
Castiglione, Bianca;
Fumagalli, Monica;
Mosca, Fabio

Publication type:

Article

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.

Published in:

2018

By:

Li, Min;
Liu, Jia;
Yi, Huan;
Xu, Li;
Zhong, Xiufeng;
Peng, Fuhua

Publication type:

journal article

Impacto sociobiomédico de la sobreprotección: el Síndrome de Wolfram como ejemplo paradigmático.

Published in:

Cultura de los Cuidados, 2022, v. 25, n. 62, p. 260, doi. 10.14198/cuid.2022.62.18

By:

Esteban Bueno, Gema;
Manuel Guerra, Jose;
Coca, Juan R.;
Ruiz Castañeda, Dyanne

Publication type:

Article

Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 2, p. 212, doi. 10.1111/pedi.13291

By:

Ray, Mary Katherine;
Ling Chen;
White, Neil H.;
Ni, Richard;
Hershey, Tamara;
Marshall, Bess A.

Publication type:

Article

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.

Published in:

Pediatric Diabetes, 2018, v. 19, p. 47, doi. 10.1111/pedi.12772

By:

Hattersley, Andrew T.;
Greeley, Siri A. W.;
Polak, Michel;
Rubio‐Cabezas, Oscar;
Njølstad, Pål R.;
Mlynarski, Wojciech;
Castano, Luis;
Carlsson, Annelie;
Raile, Klemens;
Chi, Dung V.;
Ellard, Sian;
Craig, Maria E.

Publication type:

Article

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.

Published in:

Pediatric Diabetes, 2017, v. 18, n. 8, p. 934, doi. 10.1111/pedi.12513

By:

Morikawa, Shuntaro;
Tajima, Toshihiro;
Nakamura, Akie;
Ishizu, Katsura;
Ariga, Tadashi

Publication type:

Article

Wolfram syndrome unusual presentation.

Published in:

Indian Journal of Endocrinology & Metabolism, 2017, v. 21, p. 68

By:

Ankathi, Shravan;
Neelaveni, K.;
Sahay, Rakesh Kumar

Publication type:

Article

A young diabetic with suicidal risk: Rare disease with a rarer presentation.

Published in:

2013

By:

Philip, Rajeev;
Patidar, P. Prem;
Agarwal, Pankaj;
Gupta, K. K.

Publication type:

Case Study

Atypical presentations of Wolframs syndrome.

Published in:

2012

By:

Saran, S.;
Philip, R.;
Patidar, P. P.;
Gutch, M.;
Agroiya, P.;
Agarwal, P.;
Gupta, K. K.

Publication type:

Case Study

Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report.

Published in:

2017

By:

Catalano, Antonino;
Bellone, Federica;
Cicala, Giuseppe;
Giandalia, Annalisa;
Morabito, Nunziata;
Cucinotta, Domenico;
Russo, Giuseppina Tiziana

Publication type:

Case Study

A Case of Wolfram Syndrome Presenting with Restlessness.

Published in:

Journal of Bangladesh College of Physicians & Surgeons, 2016, v. 34, n. 1, p. 42, doi. 10.3329/jbcps.v34i1.29166

By:

Mowla, S. G. M.;
Miah, M. T.;
Rahman, A.;
Shonchoi, S. S.;
Alam, M. N.;
Salim, M.

Publication type:

Article

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 430, doi. 10.1111/cge.12437

By:

Chaussenot, A.;
Rouzier, C.;
Quere, M.;
Plutino, M.;
Ait‐El‐Mkadem, S.;
Bannwarth, S.;
Barth, M.;
Dollfus, H.;
Charles, P.;
Nicolino, M.;
Chabrol, B.;
Vialettes, B.;
Paquis‐Flucklinger, V.

Publication type:

Article

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 2, p. 197, doi. 10.1111/cge.12260

By:

Piccinno, E.;
Ortolani, F.;
Vendemiale, M.;
Tummolo, A.;
Masciopinto, M.;
Natale, M.P.;
De Luca, A.;
Agolini, E.;
Aloi, C.;
Salina, A.;
D'Annunzio, G.;
Fischetto, R.;
Papadia, F.

Publication type:

Article

Differential promoter activity by nucleotide substitution at a type 2 diabetes genome-wide association study signal upstream of the wolframin gene 在一项2型糖尿病全基因组关联研究中wolframin基因的信号上游核苷酸置换导致启动子活性出现差异

Published in:

Journal of Diabetes, 2016, v. 8, n. 2, p. 253, doi. 10.1111/1753-0407.12289

By:

Ryu, Jihye;
Lee, Chaeyoung

Publication type:

Article

Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.

Published in:

1986

By:

BLASI, C.;
PIERELLI, F.;
RISPOLI, E.;
SAPONARA, M.;
VINGOLO, E.;
ANDREANI, P.;
Andreani, D

Publication type:

journal article

Wolfram (DIDMOAD) syndrome with ventral central pontine hyperintensity without brainstem atrophy.

Published in:

2016

By:

Harsha, Kamble J.;
Parameswaran, K.

Publication type:

Letter

Commentary: Wolfram (DIDMOAD) syndrome: A progressive disorder with nonsynchronized clinical and imaging features.

Published in:

2016

By:

Dutta Satyarthee, Guru;
Satyarthee, Guru Dutta

Publication type:

Letter

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome.

Published in:

PLoS Biology, 2016, v. 14, n. 7, p. 1, doi. 10.1371/journal.pbio.1002511

By:

Cagalinec, Michal;
Liiv, Mailis;
Hodurova, Zuzana;
Hickey, Miriam Ann;
Vaarmann, Annika;
Mandel, Merle;
Zeb, Akbar;
Choubey, Vinay;
Kuum, Malle;
Safiulina, Dzhamilja;
Vasar, Eero;
Veksler, Vladimir;
Kaasik, Allen

Publication type:

Article

A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

Published in:

Documenta Ophthalmologica, 2012, v. 124, n. 2, p. 133, doi. 10.1007/s10633-011-9308-8

By:

Langwińska-Wośko, Ewa;
Broniek-Kowalik, Karina;
Szulborski, Kamil

Publication type:

Article

A case of Wolfram syndrome with chronic renal failure.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 3, p. 166, doi. 10.6065/apem.2018.23.3.166

By:

Korkmaz, Hüseyin Anıl

Publication type:

Article

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Published in:

Scientific Reports, 2015, p. 1, doi. 10.1038/srep14731

By:

Xuli Qian;
Luyang Qin;
Guangqian Xing;
Xin Cao

Publication type:

Article

Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects.

Published in:

Journal of Ophthalmic & Vision Research, 2021, v. 16, n. 4, p. 602, doi. 10.18502/jovr.v16i4.9750

By:

Mirrahimi, Mehraban;
Safi, Sare;
Mohammadzadeh, Maryam;
Doozandeh, Azadeh;
Suri, Fatemeh

Publication type:

Article

Selective cognitive and psychiatric manifestations in Wolfram Syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0282-1

By:

Bischoff, Allison N.;
Reiersen, Angela M.;
Buttlaire, Anna;
Al-lozi, Amal;
Doty, Tasha;
Marshall, Bess A.;
Hershey, Tamara

Publication type:

Article

Phenotypic characteristics of early Wolfram syndrome.

Published in:

2013

By:

Marshall, Bess A.;
Alan Permutt, M.;
Paciorkowski, Alexander R.;
Hoekel, James;
Karzon, Roanne;
Wasson, Jon;
Viehover, Amy;
White, Neil H.;
Shimony, Joshua S.;
Manwaring, Linda;
Austin, Paul;
Hullar, Timothy E.;
Hershey, Tamara;
Permutt, M Alan;
Washington University Wolfram Study Group

Publication type:

journal article

Reliability and validity of the Wolfram Unified Rating Scale (WURS).

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 89, doi. 10.1186/1750-1172-7-89

By:

Chau Nguyen;
Foster, Erin R.;
Paciorkowski, Alexander R.;
Viehoever, Amy;
Considine, Colleen;
Bondurant, Aidena;
Marshall, Bess A.;
Hershey, Tamara

Publication type:

Article

Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome.

Published in:

Acta Diabetologica, 2017, v. 54, n. 11, p. 1019, doi. 10.1007/s00592-017-1042-6

By:

Zmyslowska, Agnieszka;
Fendler, Wojciech;
Waszczykowska, Arleta;
Niwald, Anna;
Borowiec, Maciej;
Jurowski, Piotr;
Mlynarski, Wojciech

Publication type:

Article

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Published in:

Acta Diabetologica, 2016, v. 53, n. 6, p. 899, doi. 10.1007/s00592-016-0884-7

By:

Ghahraman, Martha;
Abbaszadegan, Mohammad;
Vakili, Rahim;
Hosseini, Sousan;
Fardi Golyan, Fatemeh;
Ghaemi, Nosrat;
Forghanifard, Mohammad

Publication type:

Article

Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes.

Published in:

Acta Diabetologica, 2015, v. 52, n. 6, p. 1057, doi. 10.1007/s00592-015-0757-5

By:

Zmyslowska, A.;
Fendler, W.;
Szadkowska, A.;
Borowiec, M.;
Mysliwiec, M.;
Baranowska-Jazwiecka, A.;
Buraczewska, M.;
Fulmanska-Anders, M.;
Mianowska, B.;
Pietrzak, I.;
Rzeznik, D.;
Mlynarski, W.

Publication type:

Article

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

Published in:

2015

By:

Rondinelli, Maurizio;
Novara, Francesca;
Calcaterra, Valeria;
Zuffardi, Orsetta;
Genovese, Stefano

Publication type:

Report

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.

Published in:

2019

By:

Soares, Andreia;
Mota, Ágata;
Fonseca, Sofia;
Faria, Olinda;
Brandão, Elisete;
Falcão dos Reis, Fernando;
Gentil, Rita;
Guimarães, Sandra;
Mendonça, Luís

Publication type:

Case Study

Analysis of metabolic effects of menthol on WFS1-deficient mice.

Published in:

Physiological Reports, 2016, v. 4, n. 1, p. 1, doi. 10.14814/phy2.12660

By:

Ehrlich, Marite;
Ivask, Marilin;
Raasmaja, Atso;
Kõks, Sulev

Publication type:

Article

Liraglutide, 7,8-DHF and their co-treatment prevents loss of vision and cognitive decline in a Wolfram syndrome rat model.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81768-6

By:

Seppa, Kadri;
Jagomäe, Toomas;
Kukker, Kaia Grete;
Reimets, Riin;
Pastak, Marko;
Vasar, Eero;
Terasmaa, Anton;
Plaas, Mario

Publication type:

Article

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Published in:

2020

By:

La Morgia, Chiara;
Maresca, Alessandra;
Amore, Giulia;
Gramegna, Laura Ludovica;
Carbonelli, Michele;
Scimonelli, Emanuela;
Danese, Alberto;
Patergnani, Simone;
Caporali, Leonardo;
Tagliavini, Francesca;
Del Dotto, Valentina;
Capristo, Mariantonietta;
Sadun, Federico;
Barboni, Piero;
Savini, Giacomo;
Evangelisti, Stefania;
Bianchini, Claudio;
Valentino, Maria Lucia;
Liguori, Rocco;
Tonon, Caterina

Publication type:

Correction Notice

Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.

Published in:

Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00018

By:

Duan, Lian;
Li, Qian;
Tong, An-Li;
Mao, Jiang-Feng;
Yu, Miao;
Yuan, Tao;
Chai, Xiao-Feng;
Gu, Feng

Publication type:

Article

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 1, p. 102, doi. 10.4274/jcrpe.galenos.2022.2022-4-11

By:

Takahide Kokumai;
Shigeru Suzuki;
Noriko Nishikawa;
Hinako Yamamura;
Tokuo Mukai;
Yusuke Tanahashi;
Satoru Takahashi

Publication type:

Article