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Items: 1 to 20 of 90

1.

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Park J, Hyun YS, Kim YJ, Nam SH, Kim SH, Hong YB, Park JM, Chung KW, Choi BO.

J Clin Neurol. 2013 Oct;9(4):283-8. doi: 10.3988/jcn.2013.9.4.283. Epub 2013 Oct 31.

2.

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 10;9:190. doi: 10.1186/s13023-014-0190-9.

3.

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.

Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29.

4.

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. doi: 10.1038/ejhg.2014.168. Epub 2014 Sep 3.

5.

Charcot-Marie-Tooth Neuropathy X Type 5.

Kim JW, Kim HJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Aug 26 [updated 2013 Jun 6].

6.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
7.

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 14;9:24. doi: 10.1186/1750-1172-9-24.

8.

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. doi: 10.1002/jgm.2935.

9.

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. doi: 10.1155/2015/127013. Epub 2015 May 24. Review.

10.

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; FORGE Canada Consortium, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R.

Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25.

11.

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO.

BMC Med Genet. 2013 Dec 5;14:125. doi: 10.1186/1471-2350-14-125.

12.

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 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Review.

13.

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. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28. Review.

14.

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H.

Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17.

15.

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. doi: 10.1007/s11011-017-0121-2. Epub 2017 Oct 18.

PMID:
29047041
16.

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. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.

PMID:
25785835
17.

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

Kostera-Pruszczyk A, Kosinska J, Pollak A, Stawinski P, Walczak A, Wasilewska K, Potulska-Chromik A, Szczudlik P, Kaminska A, Ploski R.

J Peripher Nerv Syst. 2014 Sep;19(3):242-5. doi: 10.1111/jns.12088.

PMID:
25403865
18.

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE.

Am J Med Genet. 2002 Apr 1;108(4):295-303. Review.

PMID:
11920834
19.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
20.

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.

Brain. 2006 Aug;129(Pt 8):2103-18. Epub 2006 Jul 10.

PMID:
16835246

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