Pol 3-Related Leukodystrophy Latest Advances

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Journal: eLife

Published: November 05, 2024

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Journal: bioRxiv : the preprint server for biology

Published: January 03, 2024

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.

Journal: AACE clinical case reports

Published: September 30, 2023

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Journal: Journal of the peripheral nervous system : JPNS

Published: September 07, 2023

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Journal: Scientific reports

Published: September 06, 2023

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.

Journal: Frontiers in neurology

Published: July 29, 2023

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Journal: Frontiers in neurology

Published: July 06, 2023

Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.

Journal: Molecular and cellular biology

Published: May 24, 2023

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.

Journal: Journal of clinical research in pediatric endocrinology

Published: March 28, 2023

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

Journal: Frontiers in neuroscience

Published: February 15, 2023

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

Journal: Brain : a journal of neurology

Published: January 20, 2023

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Journal: BMC medical genomics

Published: December 26, 2022

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Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.

Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.