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Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Perego MGL, Galli N, Nizzardo M, et al.
Cellular and molecular life sciences : CMLS, 2020
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Magri F, Brusa R, Bello L, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 2, p 67
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients
Faravelli I, Meneri M, Saccomanno D, et al.
Journal of cellular and molecular medicine, 2020, 24, 5, p 3034
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Maggi L, Bello L, Bonanno S, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights
Saladini M, Nizzardo M, Govoni A, et al.
Journal of cellular and molecular medicine, 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
The Italian Limb Girdle Muscular Dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri F, Nigro V, Angelini C, et al.
Muscle & Nerve, 2016, 55, 1, p 55
A Phase 1/2a Follistatin Gene Therapy Trial for Becker Muscular Dystrophy
Mendell JR, Sahenk Z, Malik V, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2015, 23, 1, p 192
Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA - a dose response study in mice and nonhuman primates
Meyer K, Ferraiuolo L, Schmelzer L, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2015, 23, 3, p 477
Revised genetic classification of Limb Girdle Muscular Dystrophies
Magri F, Brajkovic S, Govoni A, et al.
Current molecular medicine, 2014, 14, 8, p 934
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
Magri F, Bo RD, D'Angelo MG, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p. 934-943
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
Magri F, Govoni A, D'Angelo MG, et al.
Journal of neurology, 2011, 258, 9, p. 1610-1623
New molecular findings in congenital myopathies due to selenoprotein N gene mutations
Cagliani R, Fruguglietti ME, Berardinelli A, et al.
Journal of the neurological sciences, 2011, 300, 1-2, p. 107-113
