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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 2, 2017
Somatic mosaicism represents an underestimated event underlying collagen 6-related disordersAdele D'Amico, Fabiana Fattori, Giorgio Tasca, et al.Journal of Medical Genetics|February 3, 2016
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2Patrizia Calandra, Isabella Cascino, Richard J L F Lemmers, et al.Muscle & Nerve|June 14, 2024
Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophyLeonardo Barzaghi, Matteo Paoletti, Mauro Monforte, et al.Cells|December 23, 2022
D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD PatientsValerio Caputo, Domenica Megalizzi, Carlo Fabrizio, et al.Brain & Development|February 16, 2023
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patientsChiara Panicucci, Sara Casalini, Beatrice M Damasio, et al.Frontiers in Genetics|November 16, 2020
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern ItalyAdele D'Amico, Fabiana Fattori, Francesco Nicita, et al.Human Molecular Genetics|October 11, 2019
The variability of SMCHD1 gene in FSHD patients: evidence of new mutationsClaudia Strafella, Valerio Caputo, Rosaria Maria Galota, et al.Cells|June 2, 2021
Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body MyositisMatteo Lucchini, Lorenzo Maggi, Elena Pegoraro, et al.Frontiers in Cell and Developmental Biology|July 24, 2024
Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophyEsther Fernández-Simón, Patricia Piñol-Jurado, Rasya Gokul-Nath, 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.Pageof 16