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ACS Pharmacology & Translational Science|October 16, 2025
Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular DystrophyCecilia Astigiano, Elisa Principi, Sara Pintus, et al.
Cellular and Molecular Life Sciences : CMLS|September 10, 2024
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophyChiara Panicucci, Eray Sahin, Martina Bartolucci, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
Acta Neuropathologica Communications|March 22, 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantNastasia Cardone, Melissa Moula, Rianne J Baelde, et al.
Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Neurobiology of Disease|January 25, 2020
Distal motor neuropathy associated with novel EMILIN1 mutationMichele Iacomino, Roberto Doliana, Maria Marchese, et al.
Brain : a Journal of Neurology|October 28, 2025
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving diseaseAdriana Amaro, Francesco Reggiani, Chiara Panicucci, et al.
Neuropathology and Applied Neurobiology|July 29, 2022
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatmentChiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, et al.
Brain : a Journal of Neurology|November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal modelLein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.
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