Associated Papers
Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.
Fazio A et al.
Genes, 2025
Manifold functions of Mediator complex in neurodevelopmental disorders.
Li YW et al.
Neurobiology of Disease, 2025
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T et al.
Genes, 2022
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E et al.
American Journal of Human Genetics, 2019
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Nair P et al.
Molecular Syndromology, 2019
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
Leal A et al.
Neurogenetics, 2018
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
Lupo V et al.
The Journal of Molecular Diagnostics : Jmd, 2016
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
Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.
Jerath NU et al.
Biochimica Et Biophysica Acta, 2015
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
Figueiredo T et al.
Journal of Medical Genetics, 2015
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R et al.
Neurology, 2013
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
Tazir M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Azzedine H et al.
Molecular Syndromology, 2012
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C et al.
Advances in Experimental Medicine and Biology, 2012
Mediator and human disease.
Spaeth JM et al.
Seminars in Cell & Developmental Biology, 2011
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.
Ajroud-Driss S et al.
Current Neurology and Neuroscience Reports, 2011
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin KP et al.
Plos One, 2011
[Charcot-Marie-Tooth (CMT) disease: an update].
Vallat JM et al.
Medecine Sciences : M/s, 2010
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Leal A et al.
Neurogenetics, 2009
Hereditary predominantly motor neuropathies.
Pareyson D et al.
Current Opinion in Neurology, 2009
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Leal A et al.
Neurogenetics, 2009