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Cell Death & Disease|September 16, 2022
Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patientsLorena Di Pietro, Flavia Giacalone, Elvira Ragozzino, et al.
European Journal of Radiology|December 9, 2020
Texture analysis and machine learning to predict water T2 and fat fraction from non-quantitative MRI of thigh muscles in Facioscapulohumeral muscular dystrophyPaolo Florent Felisaz, Giulia Colelli, Elena Ballante, et al.
Clinical Genetics|December 2, 2023
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian familiesClaudia Strafella, Luca Colantoni, Domenica Megalizzi, et al.
Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, et al.
Magma (New York, N.Y.)|October 19, 2021
Deep learning for automatic segmentation of thigh and leg musclesAbramo Agosti, Enea Shaqiri, Matteo Paoletti, et al.
Neuromuscular Disorders : NMD|January 30, 2025
Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendationsSanne C C Vincenten, Sjan Teeselink, Karlien Mul, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
Journal of Neuromuscular Diseases|March 14, 2026
Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophyJess Page, Elena Karkkainen, Sonia Segovia, et al.
Neuromuscular Disorders : NMD|April 21, 2015
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
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