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Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of myasthenia-myositis association from a large cohort of patients
Garibaldi M, Fionda L, Vanoli F, et al.
Autoimmunity reviews, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study
Spaziani M, Semeraro A, Bucci E, et al.
Journal of endocrinological investigation, 2019
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients
Brogna C, Cristiano L, Verdolotti T, et al.
Journal of neurology, 2019
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez A, Alonso-Jimenez A, Kroon RHMJM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019, 90, 5, p 576
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
Rossi S, Della Marca G, Ricci M, et al.
Journal of the neurological sciences, 2019, 399, p 118
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Maggi L, Bernasconi P, D'Amico A, et al.
Neurological sciences, 2019, 40, 3, p 457
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Garibaldi M, Garibaldi M, Rendu J, et al.
Acta neuropathologica communications, 2019, 7, 1
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Garibaldi M, Fattori F, Bortolotti CA, et al.
Acta neuropathologica communications, 2018, 6, 1
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
Renard D, Taïeb G, Garibaldi M, et al.
American Journal of Medical Genetics Part A, 2018, 176, 8, p 1760
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Lornage X, Malfatti E, Chéraud C, et al.
Annals of neurology, 2017, 81, 3, p 467
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis
Garibaldi M, Fattori F, Riva B, et al.
Clinical genetics, 2017, 91, 5, p 780
Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD)
Garibaldi M, Sacconi S, Antonini G, et al.
Journal of neurology, 2017, 264, 3, p 589
Muscle MRI in neutral lipid storage disease (NLSD)
Garibaldi M, Tasca G, Diaz-Manera J, et al.
Journal of neurology, 2017, 264, 7, p 1334
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity
Teveroni E, Pellegrino M, Sacconi S, et al.
The Journal of clinical investigation, 2017, 127, 4, p 1531
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation
Garibaldi M, Böhm J, Fattori F, et al.
Journal of Neuromuscular Diseases, 2016, 3, 1, p 111
Dropped-head in recessive oculopharyngeal muscular dystrophy
Garibaldi M, Pennisi EM, Bruttini M, et al.
Neuromuscular disorders : NMD, 2015, 25, 11, p. 869
