210 related articles for article (PubMed ID: 25056293)
1. A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
Mozzillo E; Delvecchio M; Carella M; Grandone E; Palumbo P; Salina A; Aloi C; Buono P; Izzo A; D'Annunzio G; Vecchione G; Orrico A; Genesio R; Simonelli F; Franzese A
BMC Med Genet; 2014 Jul; 15():88. PubMed ID: 25056293
[TBL] [Abstract][Full Text] [Related]
2. A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
Cattaneo M; La Sala L; Rondinelli M; Errichiello E; Zuffardi O; Puca AA; Genovese S; Ceriello A
BMC Med Genet; 2017 Dec; 18(1):147. PubMed ID: 29237418
[TBL] [Abstract][Full Text] [Related]
3. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Rouzier C; Moore D; Delorme C; Lacas-Gervais S; Ait-El-Mkadem S; Fragaki K; Burté F; Serre V; Bannwarth S; Chaussenot A; Catala M; Yu-Wai-Man P; Paquis-Flucklinger V
Hum Mol Genet; 2017 May; 26(9):1599-1611. PubMed ID: 28335035
[TBL] [Abstract][Full Text] [Related]
4. Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding.
Di Iorio V; Mozzillo E; Rosanio FM; Di Candia F; Genesio R; Testa F; Iovino C; Franzese A; Simonelli F
Front Pediatr; 2021; 9():661434. PubMed ID: 33996696
[TBL] [Abstract][Full Text] [Related]
5. Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103 + 1G>A CISD2 Mutation for Disease Modeling.
La Spada A; Ntai A; Genovese S; Rondinelli M; De Blasio P; Biunno I
Stem Cells Dev; 2018 Feb; 27(4):287-295. PubMed ID: 29239282
[TBL] [Abstract][Full Text] [Related]
6. Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L; Bramanti P; Di Bella C; De Luca F
Pediatr Res; 2018 May; 83(5):921-929. PubMed ID: 29774890
[TBL] [Abstract][Full Text] [Related]
7. Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.
Rondinelli M; Novara F; Calcaterra V; Zuffardi O; Genovese S
Acta Diabetol; 2015 Feb; 52(1):175-8. PubMed ID: 25371195
[No Abstract] [Full Text] [Related]
8. Clinical utility gene card for: Wolfram syndrome.
Moosajee M; Yu-Wai-Man P; Rouzier C; Bitner-Glindzicz M; Bowman R
Eur J Hum Genet; 2016 Nov; 24(11):. PubMed ID: 27222289
[No Abstract] [Full Text] [Related]
9. Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome.
Zhang Y; Feng L; Kong X; Wu J; Chen Y; Tian G
Orphanet J Rare Dis; 2019 Aug; 14(1):190. PubMed ID: 31391115
[TBL] [Abstract][Full Text] [Related]
10. Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Rosanio FM; Di Candia F; Occhiati L; Fedi L; Malvone FP; Foschini DF; Franzese A; Mozzillo E
Int J Environ Res Public Health; 2022 Jan; 19(2):. PubMed ID: 35055657
[TBL] [Abstract][Full Text] [Related]
11. Wolfram syndrome 1 and Wolfram syndrome 2.
Rigoli L; Di Bella C
Curr Opin Pediatr; 2012 Aug; 24(4):512-7. PubMed ID: 22790102
[TBL] [Abstract][Full Text] [Related]
12. Novel missense
Mair H; Fowler N; Papatzanaki ME; Sudhakar P; Maldonado RS
Ophthalmic Genet; 2022 Aug; 43(4):567-572. PubMed ID: 35450504
[TBL] [Abstract][Full Text] [Related]
13. Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's disease.
Li L; Venkataraman L; Chen S; Fu H
Neurosci Biobehav Rev; 2020 Nov; 118():775-783. PubMed ID: 32949681
[TBL] [Abstract][Full Text] [Related]
14. Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.
Pourreza MR; Sobhani M; Rahimi A; Aramideh M; Kajbafzadeh AM; Noori-Daloii MR; Tabatabaiefar MA
Acta Diabetol; 2020 Jan; 57(1):81-87. PubMed ID: 31309279
[TBL] [Abstract][Full Text] [Related]
15. Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.
Chen YF; Kao CH; Chen YT; Wang CH; Wu CY; Tsai CY; Liu FC; Yang CW; Wei YH; Hsu MT; Tsai SF; Tsai TF
Genes Dev; 2009 May; 23(10):1183-94. PubMed ID: 19451219
[TBL] [Abstract][Full Text] [Related]
16. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
Medlej R; Wasson J; Baz P; Azar S; Salti I; Loiselet J; Permutt A; Halaby G
J Clin Endocrinol Metab; 2004 Apr; 89(4):1656-61. PubMed ID: 15070927
[TBL] [Abstract][Full Text] [Related]
17. Segregation of two variants suggests the presence of autosomal dominant and recessive forms of
Lusk L; Black E; Vengoechea J
J Med Genet; 2020 Feb; 57(2):121-123. PubMed ID: 31363008
[TBL] [Abstract][Full Text] [Related]
18. Behavioral characterization of a novel Cisd2 mutant mouse.
Gaines CH; Snyder AE; Ervin RB; Farrington J; Walsh K; Schoenrock SA; Tarantino LM
Behav Brain Res; 2021 May; 405():113187. PubMed ID: 33610659
[TBL] [Abstract][Full Text] [Related]
19. Genomics of Wolfram Syndrome 1 (WFS1).
Kõks S
Biomolecules; 2023 Sep; 13(9):. PubMed ID: 37759745
[TBL] [Abstract][Full Text] [Related]
20. Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.
Ajlouni K; Jarrah N; El-Khateeb M; El-Zaheri M; El Shanti H; Lidral A
Am J Med Genet; 2002 May; 115(1):61-5. PubMed ID: 12116178
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
