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Brain & Development|March 27, 2020
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcomeRoberta Battini, Giorgia Olivieri, Roberta Milone, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophyEmily C Storey, Ian Holt, Glenn E Morris, et al.
International Journal of Molecular Sciences|October 26, 2024
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare DisordersDomenica Megalizzi, Giulia Trastulli, Luca Colantoni, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 27, 2020
Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neckEloisa Tiberi, Simonetta Costa, Domenico Umberto De Rose, et al.
International Journal of Molecular Sciences|December 23, 2022
A Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot StudyMarco Luigetti, Valeria Guglielmino, Angela Romano, et al.
Journal of Neurology|January 7, 2015
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutationMichela Catteruccia, Donato Sauchelli, Giacomo Della Marca, et al.
International Journal of Molecular Sciences|January 27, 2024
Serum Neurofilament and Free Light Chain Levels in Patients Undergoing Treatment for Chronic Inflammatory Demyelinating PolyneuropathyMarco Luigetti, Guido Primiano, Valerio Basile, et al.
Brain Sciences|December 23, 2022
Serum Inflammatory Profile in Hereditary Transthyretin Amyloidosis: Mechanisms and Possible Therapeutic ImplicationsMarco Luigetti, Angela Romano, Valeria Guglielmino, et al.
BMC Cardiovascular Disorders|April 7, 2020
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case reportValeria Novelli, Antonio Bisignani, Gemma Pelargonio, et al.
Genes|December 23, 2020
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial MyopathiesJacopo Gervasoni, Aniello Primiano, Federico Marini, et al.
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