Matteo Garibaldi
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View article: Correction: Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients
Correction: Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients Open
View article: Emergent role of complement inhibitors in myasthenic crisis: Understanding why, when and how
Emergent role of complement inhibitors in myasthenic crisis: Understanding why, when and how Open
We report the case of a 32-year-old woman with an 11-year history of thymomatous AChR antibody-positive generalized myasthenia gravis (gMG, MGFA IIIb) who experienced a myasthenic crisis (MC) during the postpartum period, requiring mechani…
View article: Evaluation of aggrephagy markers in myofibrillar myopathies
Evaluation of aggrephagy markers in myofibrillar myopathies Open
View article: Ravulizumab for generalized Myasthenia Gravis: a multicenter real-life experience
Ravulizumab for generalized Myasthenia Gravis: a multicenter real-life experience Open
View article: Correction: A real-life experience with eculizumab and efgartigimod in generalized myasthenia gravis patients
Correction: A real-life experience with eculizumab and efgartigimod in generalized myasthenia gravis patients Open
Introduction Eculizumab, a complement active antibody, and efgartigimod, an Fc fragment that blocks neonatal Fc receptor, are both approved to treat generalized myasthenia gravis (gMG) patients. The objective of this study is to describe t…
View article: Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study
Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study Open
View article: Correction: Novel force feedback technology improves suturing in robotic-assisted surgery: a pre-clinical study
Correction: Novel force feedback technology improves suturing in robotic-assisted surgery: a pre-clinical study Open
View article: Exploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights from 123I-mIBG Scintigraphy
Exploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights from 123I-mIBG Scintigraphy Open
Background/Objectives: Hereditary transthyretin-mediated amyloidosis (ATTRv) is a rare disease characterized by the deposition of amyloid in the heart and peripheral nerves, particularly affecting small fibers. This study aims to evaluate …
View article: Correction: Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study
Correction: Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study Open
View article: High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay?
High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay? Open
View article: Correction: Novel force feedback technology improves suturing in robotic-assisted surgery: a pre-clinical study
Correction: Novel force feedback technology improves suturing in robotic-assisted surgery: a pre-clinical study Open
View article: Novel force feedback technology improves suturing in robotic-assisted surgery: a pre-clinical study
Novel force feedback technology improves suturing in robotic-assisted surgery: a pre-clinical study Open
Introduction The inability to sense force applied to tissue is suggested as a limitation to robotic-assisted surgery (RAS). This pre-clinical study evaluated the impact of a novel force feedback (FFB) technology, integrated on a next-gener…
View article: Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients Open
View article: Management of overlapping immune-related myocarditis, myositis, and myasthenia in a young patient with advanced NSCLC: a case report
Management of overlapping immune-related myocarditis, myositis, and myasthenia in a young patient with advanced NSCLC: a case report Open
Immunotherapy is increasingly used in advanced non-small-cell lung cancer (NSCLC), offering a significant anti-tumor response, as well as causing rising immune-related adverse effects. The incidence of immune checkpoint inhibitor-induced m…
View article: Clinical Course of Neurologic Adverse Events Associated With Immune Checkpoint Inhibitors
Clinical Course of Neurologic Adverse Events Associated With Immune Checkpoint Inhibitors Open
More than half of the patients with n-irAEs who survived the acute phase developed a chronic condition. Patients with chronic n-irAEs were at higher risk of death, mainly due to cancer progression. Future studies are needed to further char…
View article: Oxidative Stress in Transthyretin-Mediated Amyloidosis: An Exploratory Study
Oxidative Stress in Transthyretin-Mediated Amyloidosis: An Exploratory Study Open
Transthyretin-mediated amyloidosis (ATTR) is a systemic disease with protein precipitation in many tissues, mainly the peripheral nerve and heart. Both genetic (ATTRv, “v” for variant) and wild-type (ATTRwt) forms are known. Beyond the ste…
View article: A real-life experience with eculizumab and efgartigimod in generalized myasthenia gravis patients
A real-life experience with eculizumab and efgartigimod in generalized myasthenia gravis patients Open
View article: Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study
Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study Open
View article: Muscle hypertrophy following acquired neurogenic injury: systematic review and analysis of existing literature
Muscle hypertrophy following acquired neurogenic injury: systematic review and analysis of existing literature Open
Objectives Neurogenic muscle hypertrophy (NMH) is a rare condition characterized by focal muscle hypertrophy caused by chronic partial nervous injury. Given its infrequency, underlying mechanisms remain poorly understood. Inspired by two c…
View article: MiR206 and 423-3p Are Differently Modulated in Fast and Slow-Progressing Amyotrophic Lateral Sclerosis Patients
MiR206 and 423-3p Are Differently Modulated in Fast and Slow-Progressing Amyotrophic Lateral Sclerosis Patients Open
View article: Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network
Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network Open
Myotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network-“Rete delle Neurocardiologie” (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhyt…
View article: Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from Italian Neuro-Cardiology Network
Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from Italian Neuro-Cardiology Network Open
Myotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhythmology units. The INCN facili…
View article: Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Open
RFC1 disease, caused by biallelic repeat expansion in RFC1 , is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 dis…
View article: Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four <scp><i>SMN2</i></scp> Copies: Are They Really All Stable?
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four <span><i>SMN2</i></span> Copies: Are They Really All Stable? Open
Objective The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. Methods Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including …
View article: Quantitative sensory testing and skin biopsy findings in late‐onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO)
Quantitative sensory testing and skin biopsy findings in late‐onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO) Open
Introduction Hereditary transthyretin amyloidosis polyneuropathy (ATTRv‐PN) presymptomatic carriers often show preclinical abnormalities at small fiber‐related diagnostic tests. However, no validated biomarker is currently available to use…
View article: Does Patisiran Reduce Ocular Transthyretin Synthesis? A Pilot Study ofTwo Cases
Does Patisiran Reduce Ocular Transthyretin Synthesis? A Pilot Study ofTwo Cases Open
Background: Variant transthyretin-mediated amyloidosis (ATTR-v) is a well-characterized disease affecting the neurologic and cardiovascular systems. Patisiran has been approved for neurologic involvement as it reduces hepatic synthesis of …
View article: Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients
Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients Open
View article: Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients
Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients Open
Neutral lipid storage disease type M (NLSD-M) is an ultra-rare, autosomal recessive disorder that causes severe skeletal and cardiac muscle damage and lipid accumulation in all body tissues. In this hereditary pathology, the defective acti…
View article: Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies Open
The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future cha…
View article: Muscle MRI in immune-mediated necrotizing myopathy (IMNM): implications for clinical management and treatment strategies
Muscle MRI in immune-mediated necrotizing myopathy (IMNM): implications for clinical management and treatment strategies Open