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

Exome Sequencing Reveals a NovelPRPS1Mutation in a Family with CMTX5 without Optic Atrophy

(2013) Jin Park et al.   Journal of Clinical Neurology

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I

(2012) Rocio Moran et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hearing loss andPRPS1mutations: Wide spectrum of phenotypes and potential therapy

(2012) Xue Zhong Liu et al.   INTERNATIONAL JOURNAL OF AUDIOLOGY

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

(2009) Xuezhong Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS