A5075709530- Myasthenia Gravis and Thymoma
- Peripheral Neuropathies and Disorders
- Multiple Sclerosis Research Studies
- Mitochondrial Function and Pathology
- Autoimmune Neurological Disorders and Treatments
- Parkinson's Disease and Spinal Disorders
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Immune Cell Function and Interaction
- Ophthalmology and Eye Disorders
- Glycogen Storage Diseases and Myoclonus
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Systemic Lupus Erythematosus Research
- T-cell and B-cell Immunology
- Immunotherapy and Immune Responses
- Neurological diseases and metabolism
- Cytomegalovirus and herpesvirus research
- Neurological and metabolic disorders
- Cellular transport and secretion
- Viral Infections and Immunology Research
- Cancer Treatment and Pharmacology
- Diabetes and associated disorders
- ATP Synthase and ATPases Research
University of Padua
2024
Centre for Studies in Economics and Finance
2023
University of Naples Federico II
2008-2023
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
2002-2016
Urology Foundation
1984-2015
University of Pavia
1995-2014
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2012-2014
University College London
2014
Ospedale Maggiore
2001-2014
MRC Laboratory for Molecular Cell Biology
2014
Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by progressive rigidity body musculature with superimposed painful spasms. An autoimmune origin has been proposed. In caseload more than 100 SMS patients, 60% were found positive for autoantibodies directed against GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). Few all women affected breast cancer, negative GAD but 128-kD synaptic protein. We report here that this antigen amphiphysin....
The stiff-man syndrome is a rare disease of the central nervous system characterized by progressive rigidity body musculature. Autoantibodies directed against glutamic acid decarboxylase are present in about 60 percent patients with syndrome. In this group, there striking association organ-specific autoimmune diseases, primarily insulin-dependent diabetes mellitus.
Acute disseminated encephalomyelitis (ADEM) refers to a monophasic acute multifocal inflammatory CNS disease. However, both relapsing and site-restricted variants, possibly associated with peripheral nervous system (PNS) involvement, are also observed, systematic classification is lacking.To describe cohort of postinfectious ADEM patients, propose based on clinical instrumental features, identify subgroups patients different prognostic factors.Inpatients Neurologic Infectious Disease Clinic...
We sought to describe the diagnostic work-up, phenotype, and long-term evolution of dilated cardiomyopathy (DCM) associated with Dystrophin (DYS) defects. X-linked DCM DYS defects can be clinically indistinguishable from other types DCM. The series comprises 436 consecutive male patients diagnosed Patients underwent endomyocardial biopsy (EMB). Genetic testing employed multiplex polymerase chain reaction multiple ligation dependent probe assay for deletions direct sequencing 79 exons...
We treated 37 patients affected by autoimmune generalized myasthenia gravis (MG) with high-dose intravenous gammaglobulin (HDIVIg), 400 mg/kg per day on 5 consecutive days. A one-degree improvement of Oosterhuis global clinical classification myasthenic severity (OGCCMS), the disappearance bulbar involvement or both were recorded 12 days after beginning treatment in 70.3% and persisted up to 60 58.7%. two-degree OGCCMS was 54.1% it maintained 37.8%. The percentage did not significantly...
We measured levels of alpha-tumor necrosis factor (alpha-TNF) in cerebrospinal fluid and serum samples from 50 drug-free patients with multiple sclerosis, 25 other neurological diseases, 27 non-neurological 10 normal subjects. The most elevated alpha-TNF were found inflammatory or autoimmune diseases. Comparable detected control subjects, degenerative In also unrelated to time elapsed between the occurrence clinical exacerbation sample collection. Only 3 chronic progressive sclerosis had...
To identify the genetic cause of a complex syndrome characterized by autophagic vacuolar myopathy (AVM), hypertrophic cardiomyopathy, pigmentary retinal degeneration, and epilepsy.Clinical, pathologic, study.Two brothers presented with visual failure, seizures, prominent cardiac involvement, but only mild cognitive impairment no motor deterioration after 40 years disease duration. Muscle biopsy revealed presence widespread alterations suggestive AVM vacuoles sarcolemmal features. Through...
We report four cases of West Nile virus (WNV) transmission following a single multiorgan donation in north-eastern Italy. The transmissions were promptly detected by local transplant centres. donor had been tested for WNV nucleic acid amplification test (NAT) prior to transplantation and was negative. There no errors the nationally implemented safety protocols.