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About 38 results

ALLMedicine™ Arts Syndrome Center

Research & Reviews  19 results

Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748441
PLoS Genetics; Delos Santos K, Kim M et. al.

Sep 5th, 2019 - Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological d...

X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
https://doi.org/10.1016/j.braindev.2018.08.006
Brain & Development; Nishikura N, Yamagata T et. al.

Sep 4th, 2018 - X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the pho...

Arts Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/arts/

Mar 21st, 2018 - Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, ...

A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
https://doi.org/10.1007/s11011-017-0121-2
Metabolic Brain Disease; Agrahari AK, Sneha P et. al.

Oct 19th, 2017 - Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synth...

Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
https://doi.org/10.1016/j.braindev.2016.05.003
Brain & Development; Maruyama K, Ogaya S et. al.

Jun 3rd, 2016 - Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-...

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Clinicaltrials.gov  19 results

Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748441
PLoS Genetics; Delos Santos K, Kim M et. al.

Sep 5th, 2019 - Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological d...

X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
https://doi.org/10.1016/j.braindev.2018.08.006
Brain & Development; Nishikura N, Yamagata T et. al.

Sep 4th, 2018 - X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the pho...

Arts Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/arts/

Mar 21st, 2018 - Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, ...

A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
https://doi.org/10.1007/s11011-017-0121-2
Metabolic Brain Disease; Agrahari AK, Sneha P et. al.

Oct 19th, 2017 - Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synth...

Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
https://doi.org/10.1016/j.braindev.2016.05.003
Brain & Development; Maruyama K, Ogaya S et. al.

Jun 3rd, 2016 - Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-...

see more →