Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.
De Dominicis A et al.
Epilepsia, 2025
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric Neurology, 2024
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi A et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Yang F et al.
Clinical Genetics, 2023
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations.
Yang HJ et al.
Neurology. Genetics, 2022
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D et al.
American Journal of Human Genetics, 2021
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A et al.
Human Mutation, 2020
Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
Parayil Sankaran B et al.
Journal of Child Neurology, 2020
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.
Richards MR et al.
Journal of Medical Genetics, 2017
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
Arai-Ichinoi N et al.
Human Genetics, 2016
[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].
Tamura A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
Saitsu H et al.
American Journal of Human Genetics, 2011
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