Associated Papers
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Barbat du Closel L et al.
European Journal of Neurology, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1
The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.
Aguilar-Mahecha A et al.
Genes, 2023
38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Suppl_Table_S11
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
Tripolszki K et al.
Frontiers in Genetics, 2019
31475037 (PubMed )
Supplement: DataSheet_1.pdf
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.
Spagnol G et al.
Biopolymers, 2016
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Høyer H et al.
Biomed Research International, 2014
Characterization of the structure and intermolecular interactions between the connexin 32 carboxyl-terminal domain and the protein partners synapse-associated protein 97 and calmodulin.
Stauch K et al.
The Journal of Biological Chemistry, 2012
Phenotype expression in women with CMT1X.
Siskind CE et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
Yum SW et al.
Neurobiology of Disease, 2002
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