Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism-Reference-Cited by-同舟云学术

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Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism

Published:2021-09-20 Issue:8 Volume:8 Page:1253-1257
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Al‐Kasbi Ghalia¹,Al‐Saegh Abeer¹²,Al‐Qassabi Ahmed³^ORCID,Al‐Jabry Tariq¹,Zadjali Fahad⁴,Al‐Yahyaee Said¹,Al‐Maawali Almundher¹^ORCID

Affiliation:

1. Department of Genetics, College of Medicine and Health Sciences Sultan Qaboos University Muscat Oman

2. Genetic and Developmental Medicine Clinic Sultan Qaboos University Hospital Muscat Oman

3. Department of Medicine, Neurology Unit Sultan Qaboos University Hospital Muscat Oman

4. Department of Clinical Biochemistry, College of Medicine and Health Sciences Sultan Qaboos University Muscat Oman

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13342

Reference7 articles.

1. Orthologs of a novel archaeal and of the bacterial peptidyl-tRNA hydrolase are nonessential in yeast

2. Expression, purification, and buffer solubility optimization of the putative human peptidyl-tRNA hydrolase PTRHD1

3. Mutation inADORA1identified as likely cause of early-onset parkinsonism and cognitive dysfunction

4. PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability

5. PTRHD1(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism;Neuropediatrics;2024-02-12

2. A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism;Neuropediatrics;2024-01-29

3. Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression;npj Parkinson's Disease;2024-01-20

4. Parkinson’s disease is associated with an imbalance in circular RNA expression;2023-08-05

5. Clues from a missense mutation of the adenosine A₁ receptor gene associated with early-onset Parkinson’s disease;Neural Regeneration Research;2023

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