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Literature DB >> 27314960

Be aware of Wolfram syndrome when examining ataxic patients.

Antonella Antenora¹, Maria Lieto², Filippo Maria Santorelli³, Silvio Peluso², Francesco Saccà², Giuseppe De Michele², Alessandro Filla².

Abstract

Entities: Disease Species

Mesh：

Substances：

Year: 2016 PMID： 27314960 DOI： 10.1007/s00415-016-8199-8

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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10 in total

1. Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Authors: Maria Regina R Gasparin; Felipe Crispim; Sílvia L Paula; Maria Beatriz S Freire; Ivaldir S Dalbosco; Thais Della Manna; João Eduardo N Salles; Fábio Gasparin; Aléxis Guedes; João M Marcantonio; Márcio Gambini; Camila P Salim; Regina S Moisés
Journal: Eur J Endocrinol Date: 2008-11-28 Impact factor: 6.664

2. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

Authors: H Inoue; Y Tanizawa; J Wasson; P Behn; K Kalidas; E Bernal-Mizrachi; M Mueckler; H Marshall; H Donis-Keller; P Crock; D Rogers; M Mikuni; H Kumashiro; K Higashi; G Sobue; Y Oka; M A Permutt
Journal: Nat Genet Date: 1998-10 Impact factor: 38.330

3. Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Authors: Annabelle Chaussenot; Sylvie Bannwarth; Cecile Rouzier; Bernard Vialettes; Samira Ait El Mkadem; Brigitte Chabrol; Aline Cano; Pierre Labauge; Véronique Paquis-Flucklinger
Journal: Ann Neurol Date: 2010-12-28 Impact factor: 10.422

4. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors: Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal: JAMA Neurol Date: 2014-10 Impact factor: 18.302

10. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

Authors: Miguel López de Heredia; Ramón Clèries; Virginia Nunes
Journal: Genet Med Date: 2013-02-21 Impact factor: 8.822

10 in total

Be aware of Wolfram syndrome when examining ataxic patients.

1. Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

2. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

3. Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

4. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

5. Teaching NeuroImages: a neuroendocrine rarity: Wolfram syndrome.

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

7. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

8. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

9. Wolfram syndrome: new mutations, different phenotype.

10. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.