Works matching DE "WOLFRAM syndrome"

Results: 106

Glutathione system in Wolfram syndrome 1‑deficient mice.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 5, p. 7092, doi. 10.3892/mmr.2017.7419

By:

POROSK, RANDO;
KILK, KALLE;
MAHLAPUU, RIINA;
SOOMETS, URSEL;
TERASMAA, ANTON

Publication type:

Article

A Case of Persistent Polyuria in an Insulin-Dependent Child With Diabetes.

Published in:

2016

By:

Mangaraj, Swayamsidha;
Choudhury, Arun Kumar;
Mohanty, Binoy Kumar;
Baliarsinha, Anoj Kumar

Publication type:

Case Study

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

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52

By:

Berry, Vanita;
Gregory-Evans, Cheryl;
Emmett, Warren;
Waseem, Naushin;
Raby, Jacob;
Prescott, DeQuincy;
Moore, Anthony T;
Bhattacharya, Shomi S

Publication type:

Article

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 347, doi. 10.1038/ejhg.2012.154

By:

Haghighi, Amirreza;
Haghighi, Alireza;
Setoodeh, Aria;
Saleh-Gohari, Nasrollah;
Astuti, Dewi;
Barrett, Timothy G

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

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

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

Retinal Thinning as a Marker of Disease Progression in Patients With Wolfram Syndrome.

Published in:

Diabetes Care, 2015, v. 38, n. 3, p. e36, doi. 10.2337/dc14-1898

By:

Zmyslowska, Agnieszka;
Fendler, Wojciech;
Niwald, Anna;
Ludwikowska-Pawlowska, Malgorzata;
Borowiec, Maciej;
Antosik, Karolina;
Szadkowska, Agnieszka;
Mlynarski, Wojciech

Publication type:

Article

Phenotype-genotype correlations in a series of wolfram syndrome families.

Published in:

2004

By:

Smith, Casey J. A.;
Crock, Patricia A.;
King, Bruce R.;
Meldrum, Cliff J.;
Scott, Rodney J.

Publication type:

journal article

Be aware of Wolfram syndrome when examining ataxic patients.

Published in:

2016

By:

Antenora, Antonella;
Lieto, Maria;
Santorelli, Filippo;
Peluso, Silvio;
Saccà, Francesco;
Michele, Giuseppe;
Filla, Alessandro

Publication type:

Letter

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

A novel WFS1 variant associated with isolated congenital cataracts.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 1, p. 1, doi. 10.1101/mcs.a006259

By:

Krutish, Angela;
Elmore, James;
Ilse, Werner;
Johnston, Janine L.;
Hittel, Dustin;
Kerr, Marina;
Khan, Aneal;
Rockman-Greenberg, Cheryl;
Mhanni, Aizeddin A.

Publication type:

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

Wolfram to Alstrom: Analysis of a Diagnostic Error.

Published in:

Online Journal of Health & Allied Sciences, 2021, v. 20, n. 2, p. 1

By:

Chakrabarty, Annapoorna;
Rai, Shipra;
Saravu, Kavitha

Publication type:

Article

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

Published in:

2013

By:

Sertcelik, Mehmet;
Gurkan, Cihat Kagan

Publication type:

Abstract

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

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

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

GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52295-2

By:

Seppa, Kadri;
Toots, Maarja;
Reimets, Riin;
Jagomäe, Toomas;
Koppel, Tuuliki;
Pallase, Maia;
Hasselholt, Stine;
Krogsbæk Mikkelsen, Maiken;
Randel Nyengaard, Jens;
Vasar, Eero;
Terasmaa, Anton;
Plaas, Mario

Publication type:

Article

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for <italic>OPA1/OPA3/LHON</italic>.

Published in:

Neuro-Ophthalmology, 2018, v. 42, n. 2, p. 73, doi. 10.1080/01658107.2017.1344252

By:

Galvez-Ruiz, Alberto;
Galindo-Ferreiro, Alicia;
Schatz, Patrik

Publication type:

Article

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

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

Lack of functional wolframin causes drop in plasmalemmal sodium-calcium exchanger type 1 expression at early stage in rat model of Wolfram syndrome.

Published in:

General Physiology & Biophysics, 2020, v. 39, n. 5, p. 499, doi. 10.4149/gpb_2020017

By:

Kurekova, Simona;
Plaas, Mario;
Cagalinec, Michal

Publication type:

Article

Proliferatif Diyabetik Retinopatisi Olan DIDMOAD Sendromlu Bir Çocukta İntravitreal Bevacizumab Enjeksiyonuna Yanıt.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2013, v. 21, n. 2, p. 135

By:

TURGUT, Burak;
CAN, Nagehan BİLİR;
ÇELİKER, Ülkü;
DEMİR, Tamer

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

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

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

Published in:

BMC Pediatrics, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2431-13-130

By:

Farmer, Amy;
Aymé, Ségolène;
de Heredia, Miguel Lopez;
Maffei, Pietro;
McCafferty, Susan;
Młynarski, Wojciech;
Nunes, Virginia;
Parkinson, Kay;
Paquis-Flucklinger, Véronique;
Rohayem, Julia;
Sinnott, Richard;
Tillmann, Vallo;
Tranebjærg, Lisbeth;
Barrett, Timothy G.

Publication type:

Article

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Published in:

2017

By:

Bansal, Vikas;
Gassenhuber, Johann;
Phillips, Tierney;
Oliveira, Glenn;
Harbaugh, Rebecca;
Villarasa, Nikki;
Topol, Eric J.;
Seufferlein, Thomas;
Boehm, Bernhard O.

Publication type:

journal article

Low dose targeted alpha blockers for refractory bladder symptoms in children: a single centre experience.

Published in:

Australian & New Zealand Continence Journal, 2021, v. 27, n. 1, p. 7, doi. 10.33235/anzcj.27.1.7-12

By:

Chopra, Prakshi;
Eliezer, Dilharan D.;
Jenkins, Michelle;
Deshpande, Aniruddh V.

Publication type:

Article

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

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

Published in:

2016

By:

Harsha, Kamble J.;
Parameswaran, K.

Publication type:

Letter

Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1.

Published in:

Journal of Diabetes Research, 2016, p. 1, doi. 10.1155/2016/9239530

By:

Sedman, Tuuli;
Rünkorg, Kertu;
Krass, Maarja;
Luuk, Hendrik;
Plaas, Mario;
Vasar, Eero;
Volke, Vallo

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

Understanding activity participation among individuals with Wolfram syndrome.

Published in:

British Journal of Occupational Therapy, 2018, v. 81, n. 6, p. 348, doi. 10.1177/0308022618757182

By:

Bumpus, Emily;
Hershey, Tamara;
Doty, Tasha;
Ranck, Samantha;
Gronski, Meredith;
Urano, Fumihko;
Foster, Erin R.

Publication type:

Article

Wolfram Syndrome

Published in:

Apollo Medicine, 2010, v. 7, n. 1, p. 51, doi. 10.1177/0976001620100108

By:

Vani, N

Publication type:

Article

An adolescent male with persistent urinary symptoms.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 11, p. 3209, doi. 10.1007/s00467-024-06424-3

By:

Saha, Suchismita;
Sinha, Rajiv

Publication type:

Article

Noticeboard.

Published in:: Nursing Children & Young People, 2012, v. 24, n. 2, p. 8, doi. 10.7748/ncyp.24.4.8.s11
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