Associated Papers
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.
Pomarino D et al.
Global Medical Genetics, 2026
The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.
Torri F et al.
Clinical Genetics, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study.
Pomarino D et al.
Global Medical Genetics, 2025
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Ward KS et al.
Brain : a Journal of Neurology, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.
Ward KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Chen L et al.
Journal of Neurology, 2024
Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.
Pashkova N et al.
Iscience, 2024
Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.
Pashkova N et al.
Biorxiv : the Preprint Server for Biology, 2024
Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease.
Stefanski KM et al.
Biochemical Society Transactions, 2024
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.
Palu E et al.
Neurogenetics, 2023
Reply to Record et al. "The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved".
Stefanski KM et al.
The Journal of Biological Chemistry, 2023
The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved.
Record CJ et al.
The Journal of Biological Chemistry, 2023
NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.
Pomarino D et al.
Global Medical Genetics, 2023
How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.
Stefanski KM et al.
The Journal of Biological Chemistry, 2023
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 2022
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.
Lupski JR
Trends in Genetics : Tig, 2022
Clan genomics: From OMIM phenotypic traits to genes and biology.
Lupski JR
American Journal of Medical Genetics. Part A, 2021
Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy.
Fantin SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Laššuthová P et al.
Scientific Reports, 2021
Structural dynamics behind variants in pyrazinamidase and pyrazinamide resistance.
Khan MT et al.
Journal of Biomolecular Structure & Dynamics, 2020
Peripheral myelin protein 22 preferentially partitions into ordered phase membrane domains.
Marinko JT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.
Liu X et al.
Frontiers in Neurology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.
Ho KWD et al.
Case Reports in Genetics, 2018
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.
Fusco C et al.
Italian Journal of Pediatrics, 2017
Conformational changes associated with L16P and T118M mutations in the membrane-embedded PMP22 protein, consequential in CMT-1A.
Bello M et al.
Journal of Biomolecular Structure & Dynamics, 2017
Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment.
Li A et al.
Human Molecular Genetics, 2017
Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.
Jerath NU et al.
Muscle & Nerve, 2015
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C et al.
Cell Reports, 2015
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
Schlebach JP et al.
Journal of the American Chemical Society, 2015