Atypical Presentation of a LMNB1 Duplication Involving the Silencer Region: Beyond Classical Autosomal Dominant Leukodystrophy (P2-2.002)

To characterise the clinical, genetic and radiological presentation of a patient with LMNB1 gene duplication, including the duplication of the silencer element.

Authors

Savvina Prapiadou (ORCID: https://orcid.org/0000-0001-7415-2566)
Joy Vijayan (ORCID: https://orcid.org/0000-0001-8811-1466)
Benjamin Yong‐Qiang Tan (ORCID: https://orcid.org/0000-0003-1824-9077)
Tamara Kimball
James Wang (ORCID: https://orcid.org/0009-0006-1156-4460)

Institutions

Brigham and Women's Hospital (US)
Nanyang Technological University (SG)
National Neuroscience Institute (SG)
National University Health System (SG)

Publication Details

Journal: Neurology
Published: 2025-04-07
DOI: https://doi.org/10.1212/wnl.0000000000210634
Primary Topic: RNA regulation and disease
Type: article
Field-Weighted Citation Impact: 0.00

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article

Atypical Presentation of a LMNB1 Duplication Involving the Silencer Region: Beyond Classical Autosomal Dominant Leukodystrophy (P2-2.002)

Savvina Prapiadou, Joy Vijayan, Benjamin Yong‐Qiang Tan, Tamara Kimball et al.

Apr 7, 2025

Neurology

RNA regulation and disease

article

Atypical Presentation of a LMNB1 Duplication Involving the Silencer Region: Beyond Classical Autosomal Dominant Leukodystrophy (P2-2.002)

Savvina Prapiadou, Joy Vijayan, Benjamin Yong‐Qiang Tan, Tamara Kimball, James Wang

April 7, 2025article en

Abstract

To characterise the clinical, genetic and radiological presentation of a patient with LMNB1 gene duplication, including the duplication of the silencer element.

NeurologyVol. 104(7_Supplement_1)

Brigham and Women's Hospital (US), Nanyang Technological University (SG), National Neuroscience Institute (SG), National University Health System (SG)

Openalex Percentile: Top 94%

RNA regulation and disease

DOI Source OpenAlex

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Atypical Presentation of a LMNB1 Duplication Involving the Silencer Region: Beyond Classical Autosomal Dominant Leukodystrophy (P2-2.002) — Savvina Prapiadou, Joy Vijayan, et al. · Neurology (2025) | TGRS Research Map | TGRS