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Genes to Cells : Devoted to Molecular & Cellular Mechanisms|September 11, 2007
Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing specklesIan Holt, Saloni Mittal, Denis Furling, et al.Biology|November 27, 2025
Characterising PMP22-Proximal Partners in a Schwann Cell Model of Charcot-Marie-Tooth Disease Type1AIan Holt, Nicholas Emery, Monte A Gates, et al.Mitochondrion|April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in ItalyMichelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.International Journal of Molecular Sciences|June 2, 2021
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel PropertiesGinevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, et al.BMC Molecular and Cell Biology|December 2, 2020
An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discsIan Holt, Heidi R Fuller, Roland F R Schindler, et al.Scientific Reports|August 7, 2024
Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot studyMarco Luigetti, Francesca Vitali, Angela Romano, et al.European Journal of Neurology|January 16, 2024
Hospital admissions from the emergency department of adult patients affected by myopathiesMauro Monforte, Eleonora Torchia, Sara Bortolani, et al.Journal of Cellular Biochemistry|February 24, 2011
The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stressIan Holt, Le Thanh Lam, Stéphanie Tomé, et al.Genes|August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.International Journal of Molecular Sciences|December 11, 2025
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External OphthalmoplegiaMichela Cicchinelli, Guido Primiano, Francesca Canu, et al.Pageof 12