214 related articles for article (PubMed ID: 26089585)
1. Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R; Patel K; Mittal J; Chan B; Yan D; Grati M; Liu XZ
Dis Markers; 2015; 2015():127013. PubMed ID: 26089585
[TBL] [Abstract][Full Text] [Related]
2. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
Synofzik M; Müller vom Hagen J; Haack TB; Wilhelm C; Lindig T; Beck-Wödl S; Nabuurs SB; van Kuilenburg AB; de Brouwer AP; Schöls L
Orphanet J Rare Dis; 2014 Feb; 9():24. PubMed ID: 24528855
[TBL] [Abstract][Full Text] [Related]
3. The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Robusto M; Fang M; Asselta R; Castorina P; Previtali SC; Caccia S; Benzoni E; De Cristofaro R; Yu C; Cesarani A; Liu X; Li W; Primignani P; Ambrosetti U; Xu X; Duga S; Soldà G
Eur J Hum Genet; 2015 Jun; 23(6):766-73. PubMed ID: 25182139
[TBL] [Abstract][Full Text] [Related]
4. PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP; van Bokhoven H; Nabuurs SB; Arts WF; Christodoulou J; Duley J
Am J Hum Genet; 2010 Apr; 86(4):506-18. PubMed ID: 20380929
[TBL] [Abstract][Full Text] [Related]
5. Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Liu XZ; Xie D; Yuan HJ; de Brouwer AP; Christodoulou J; Yan D
Int J Audiol; 2013 Jan; 52(1):23-8. PubMed ID: 23190330
[TBL] [Abstract][Full Text] [Related]
6. A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK; Sneha P; George Priya Doss C; Siva R; Zayed H
Metab Brain Dis; 2018 Apr; 33(2):589-600. PubMed ID: 29047041
[TBL] [Abstract][Full Text] [Related]
7. Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Moran R; Kuilenburg AB; Duley J; Nabuurs SB; Retno-Fitri A; Christodoulou J; Roelofsen J; Yntema HG; Friedman NR; van Bokhoven H; de Brouwer AP
Am J Med Genet A; 2012 Feb; 158A(2):455-60. PubMed ID: 22246954
[TBL] [Abstract][Full Text] [Related]
8. X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Nishikura N; Yamagata T; Morimune T; Matsui J; Sokoda T; Sawai C; Sakaue Y; Higuchi Y; Hashiguchi A; Takashima H; Takeuchi Y; Maruo Y
Brain Dev; 2019 Feb; 41(2):201-204. PubMed ID: 30177296
[TBL] [Abstract][Full Text] [Related]
9. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B; He S; Corton M; Fernandez-San Jose P; Blanco-Kelly F; López-Molina MI; García-Sandoval B; Del Val J; Guo Y; Tian L; Liu X; Guan L; Torres RJ; Puig JG; Hakonarson H; Xu X; Keating B; Ayuso C
Orphanet J Rare Dis; 2014 Dec; 9():190. PubMed ID: 25491489
[TBL] [Abstract][Full Text] [Related]
10. A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Shirakawa S; Murakami T; Hashiguchi A; Takashima H; Hasegawa H; Ichida K; Sunada Y
Intern Med; 2022 Jun; 61(11):1749-1751. PubMed ID: 34803094
[TBL] [Abstract][Full Text] [Related]
11. Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
Maruyama K; Ogaya S; Kurahashi N; Umemura A; Yamada K; Hashiguchi A; Takashima H; Torres RJ; Aso K
Brain Dev; 2016 Nov; 38(10):954-958. PubMed ID: 27256512
[TBL] [Abstract][Full Text] [Related]
12. Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M; Fernández-Toral J; Solanellas J; Domínguez-Ruiz M; Gómez-Rosas E; Del Castillo FJ; Villamar M; Moreno-Pelayo MA; Del Castillo I
Pediatr Res; 2015 Jul; 78(1):97-102. PubMed ID: 25785835
[TBL] [Abstract][Full Text] [Related]
13. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O; Abi Warde MT; Lina-Granade G; Rio M; Heide S; de Lonlay P; Ceballos-Picot I; Robert MP; Couloigner V; Beltrand J; Boddaert N; Rodriguez D; Rubinato E; Lapierre JM; Merlette C; Sanquer S; Rötig A; Prokisch H; Lyonnet S; Loundon N; Kaplan J; Bonnefont JP; Munnich A; Besmond C; Jonard L; Marlin S
Eur J Med Genet; 2020 Nov; 63(11):104033. PubMed ID: 32781272
[TBL] [Abstract][Full Text] [Related]
14. New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J; Magdelaine C; Derouault P; Beauvais-Dzugan H; Bieth E; Acket B; Arne-Bes MC; Sturtz F; Lia AS
Mol Genet Genomic Med; 2019 Sep; 7(9):e875. PubMed ID: 31338985
[TBL] [Abstract][Full Text] [Related]
15. The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
Duley JA; Christodoulou J; de Brouwer AP
Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1129-39. PubMed ID: 22132967
[TBL] [Abstract][Full Text] [Related]
16. Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY; Kim AR; Kim NK; Lee C; Han JH; Kim MY; Jeon EH; Park WY; Mittal R; Yan D; Liu XZ; Choi BY
J Gene Med; 2016 Nov; 18(11-12):353-358. PubMed ID: 27886419
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5.
Meng L; Wang K; Lv H; Wang Z; Zhang W; Yuan Y
Neuropathology; 2019 Oct; 39(5):342-347. PubMed ID: 31434166
[TBL] [Abstract][Full Text] [Related]
18. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Al-Maawali A; Dupuis L; Blaser S; Heon E; Tarnopolsky M; Al-Murshedi F; Marshall CR; Paton T; Scherer SW; ; Roelofsen J; van Kuilenburg AB; Mendoza-Londono R
Eur J Hum Genet; 2015 Mar; 23(3):310-6. PubMed ID: 24961627
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
