Matteo Garibaldi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Eculizumab improves fatigue in refractory generalized myasthenia gravis	QUALITY OF LIFE RESEARCH	2019
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis	MUSCLE & NERVE	2019
Thymomatous myasthenia gravis. novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severity	JOURNAL OF NEUROLOGY	2019
Italian recommendations for diagnosis and management of congenital myasthenic syndromes	NEUROLOGICAL SCIENCES	2019
Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case–control study	JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION	2019
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients	JOURNAL OF NEUROLOGY	2019
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy	JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY	2019
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy	DISEASE MODELS & MECHANISMS	2019
Dusty core disease (DuCD): expanding morphological spectrum of RYR1 recessive myopathies	ACTA NEUROPATHOLOGICA COMMUNICATIONS	2019
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study	JOURNAL OF THE NEUROLOGICAL SCIENCES	2019
Correction to: Eculizumab improves fatigue in refractory generalized myasthenia gravis (Quality of Life Research, (2019), 28, 8, (2247-2254), 10.1007/s11136-019-02148-2)	QUALITY OF LIFE RESEARCH	2019
Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study	JOURNAL OF THE NEUROLOGICAL SCIENCES	2019
A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre	JOURNAL OF NEUROLOGY	2018
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD	ACTA NEUROPATHOLOGICA COMMUNICATIONS	2018
Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation	CLINICAL NEUROPHYSIOLOGY	2018
Lipid Myopathies	JOURNAL OF CLINICAL MEDICINE	2018
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2018
Long term follow-up of cerebrovascular abnormalities in late onset pompe disease (LOPD)	JOURNAL OF NEUROLOGY	2017
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity	THE JOURNAL OF CLINICAL INVESTIGATION	2017
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods	ANNALS OF NEUROLOGY	2017

Progetti di Ricerca

Muscle pathology in Immune Mediated Necrotizing Myopathy (IMNM): implications for diagnostic accuracy and treatment strategies