Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration
Author:
Affiliation:
1. Department of Neurology, Peking Union Medical College Hospital; Chinese Academy of Medical Sciences; Beijing China
2. Department of Neurology; Beijing Tiantan Hospital, Capital Medical University; Beijing China
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference8 articles.
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2. Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation;Chan;Hong Kong Med J,2008
3. Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation;Wu;Mov Disord,2009
4. A novel PANK2 mutation in a 12-year-old Chinese boy with pantothenate kinase-associated neurodegeneration;Pan;Neurol India,2013
5. Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome;Mak;Int J Neurosci,2011
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1. Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review;Frontiers in Neurology;2023-04-28
2. PKAN;Diagnostic Imaging: Pädiatrische Neuroradiologie;2023
3. Hallervorden-Spatz Disease: Case Report based on Radiological and Genetic Analytical Findings;J LIAQUAT UNIV MED H;2022
4. Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds;International Journal of Molecular Sciences;2020-12-30
5. Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans;Molecular Genetics and Metabolism;2019-12
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