- The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review
Cerebrovascular Unit, IRCCS Foundation Neurological Institute C Besta, Via Celoria 11, Milan 20133, Italy Electronic address
J Neurol Sci 364:77-83. 2016
..The report of our cases and the literature review underline the necessity of a detailed work-up and the collection of larger series to better clarify the DBS and SS phenotype and course. ..
- Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke
Department of Emergency Neurology, IRCCS C Mondino National Neurological Institute Foundation, Pavia, Italy Cerebrovascular Unit, IRCCS Foundation Neurological Institute C Besta, Milan, Italy Electronic address
J Stroke Cerebrovasc Dis 24:759-65. 2015
..SVE-LA (Small Vessel and Lacunar) project is a multicenter prospective Lombardia region study aimed at applying innovative genetic technologies and accurate patient phenotyping to discover the genetic basis of SVD...
- Anti-MuSK-Positive Myasthenia Gravis in a Patient with Parkinsonism and Cognitive Impairment
Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, 20122 Milan, Italy
Neurol Res Int 2011:859802. 2011
..The pattern of involvement of both peripheral and central nervous system dysfunction might suggest a common pathogenic mechanism, involving impaired cholinergic transmission...
- Molecular basis of young ischemic stroke
UO Malattie Cerebrovascolari, Fondazione IRCCS Istituto Neurologico C Besta, Via Celoria 23, 20135, Milano, Italy
Curr Med Chem 20:3818-39. 2013
..Since stroke is a potentially preventable disease, the identification of genes associated with young stroke may promote novel prevention strategies and allow the identification of therapeutic disease targets. ..
- Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant
Emergency Unit, C Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
Funct Neurol 27:247-52. 2012
- Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy
Department of Emergency Neurology, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy
Acta Neurol Scand 126:77-97. 2012
..This review focuses on central and peripheral nervous system involving available diagnostic tools and diagnostic work up in Fabry disease. It also covers the most recent evidence regarding enzyme replacement therapy...
- The genetics of small-vessel disease
Department of Emergency Neurology, IRCCS C Mondino National Neurological Institute Foundation, Via Mondino 2, 27100 Pavia, Italy
Curr Med Chem 19:4124-41. 2012
..Large collaborative efforts and robust replication, as well as implementation of new genetic approaches, are necessary to identify genetic susceptibility factors for complex SVD...
- Lombardia GENS: a collaborative registry for monogenic diseases associated with stroke
Maggiore Policlinico Hospital, IRCCS, University of Milan, Italy
Funct Neurol 27:107-17. 2012
..This will allow evaluation of the regional burden and better phenotype characterization of monogenic diseases associated with stroke...
- POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome
Neurological Unit, Ospedale di Desio, Azienda Ospedaliera di Desio Vimercate, Monza, Italy
BMC Neurol 13:8. 2013
..However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy...
- Research Progresses in Understanding the Pathophysiology of Moyamoya Disease
Cerebrovascular Disease Unit, IRCCS Foundation C Besta, Neurological Institute, Milan, Italy
Cerebrovasc Dis 41:105-18. 2016
..Recently, RNF213 gene was shown to be strongly associated with MMD occurrence with a founder effect in East Asian patients. However, the mechanisms leading from RNF213 mutations to MMD clinical features are still unknown...
- Clinical studies in stem cells transplantation for stroke: a review
Department of Neurological Sciences Neurology Unit, Milan University, Ospedale Maggiore Policlinico, Milan, Italy
Curr Vasc Pharmacol 8:29-34. 2010
- Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry
From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy A B, G B B, E A P, N T Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom H S M Department of Bio Medical Informatics, University of Pavia, Pavia, Italy S Q Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy E A, M G Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca Granda, Milan, Italy S L, L C Neurology and Stroke Unit, Department of Urgency G M, A C, Department of Genetics C C, G G, and Brain MRI 3T Research Center P V, IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy F T, C G, France
Stroke 47:1702-9. 2016
..disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease..
- Intracerebral haemorrhage, a possible presentation in Churg-Strauss syndrome: case report and review of the literature
Niccolò E Mencacci
Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Centre, Università degli Studi di Milano IRCCS Istituto Auxologico Italiano, Milan, Italy
J Neurol Sci 301:107-11. 2011
..Our case points out that intracerebral haemorrhage can be, despite rare, a presenting feature of CSS. Previously reported patients affected by cerebral haemorrhage and CSS are summarized and briefly reviewed...
- Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation
Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F Sforza 35, 20122 Milan, Italy
Neurobiol Aging 30:752-8. 2009
..These findings suggest VCP gene investigation even in apparently sporadic cases...
- Mesenchymal Stem Cells for Ischemic Stroke: Progress and Possibilities
Anna Lucia Maria Ferri
Cell Therapy Production Unit, Cerebrovascular Diseases, IRCCS Foundation Neurological Institute C Besta, Milan, Italy
Curr Med Chem 23:1598-608. 2016
..The results from early clinical trials highlight the need to optimize variables such as cell selection and route of administration in order to translate these results into safe and successful clinical applications. ..
- Vasculogenic and Angiogenic Pathways in Moyamoya Disease
Laboratory of Cellular Neurobiology, Neurology Unit, UCV, Neurological Institute C Besta IRCCS Foundation, Via Celoria 11, Milan 20133, Italy
Curr Med Chem 23:315-45. 2016
..The typical moyamoya vessels, which originate from an initial stenosis of the internal carotid, highlight that increased and/or abnormal angiogenic, vasculogenic and arteriogenic processes are involved in the disease pathophysiology...
- Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features
Cerebrovascular Unit, IRCCS Foundation Neurological Institute C Besta, Via Celoria 11, Milan, 20133, Italy
Curr Treat Options Neurol 18:33. 2016
..These data are fundamental for the development of new treatments better able to access the central nervous system, to bypass the neutralizing antibodies and to improve the heart and kidney function...
- 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
Department of Molecular Medicine, Medical Genetics, University of Pavia, Pavia, Italy
Eur J Hum Genet 20:852-6. 2012
..11 deletion syndrome. In addition, we hypothesized WTIP gene haploinsufficiency as responsible for hypospadias...
- Telephone audit for monitoring stroke unit facilities: a post hoc analysis from PROSIT study
Department of Neurological Science, University of Milan, Milan, Italy
J Stroke Cerebrovasc Dis 24:196-200. 2015
..This study is aimed at establishing whether the telephone administration of the PROject of Stroke unIt ITaly (PROSIT) audit questionnaire is reliable compared with direct face-to-face interview...
- Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status
Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
J Neurol Sci 285:227-9. 2009
..In migraine with prolonged aura hyperperfusion with vasogenic edema might explain cortical function impairment and contribute to neurological deficits...
- NOTCH3 gene mutations in subjects clinically suspected of CADASIL
Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
J Neurol Sci 307:144-8. 2011
..Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers...
- Stroke-unit care for acute stroke patients: an observational follow-up study
Dipartimento di Scienze Neurologiche, Ospedale Maggiore Policlinico IRCCS, Universita degli Studi di Milano, Milan, Italy
Lancet 369:299-305. 2007
..However, evidence that patients with acute stroke benefit from stroke-unit care is scarce. Our aim was to determine whether admission to a stroke unit, rather than a conventional ward, affected the outcome of patients with acute stroke...
- Is Period3 Genotype Associated With Sleep and Recovery in Patients With Disorders of Consciousness?
Neurological Institute C Besta IRCCS Foundation, Milan, Italy
Neurorehabil Neural Repair 30:461-9. 2016
..Even though the exact molecular mechanism has not been defined, we speculate that its effect is mediated by higher total sleep time and slow wave sleep, which would improve the preservation of main cerebral connections. ..
- Safe and Reproducible Preparation of Functional Dendritic Cells for Immunotherapy in Glioblastoma Patients
Cell Therapy Production Unit, Laboratory of Cellular Neurobiology, Cerebrovascular Unit, and Unit of Molecular Neuro Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Stem Cells Transl Med 4:1164-72. 2015
..These results demonstrated that our protocol for DC preparation is highly reproducible and permits generation of large numbers of safe and functional DCs for in vivo use in immunotherapy approaches...
- R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update
Andrea Di Cristofori
Department of Neurosurgery, University of Milan, Milan, Italy
J Headache Pain 13:419-23. 2012
..Given the therapeutic opportunities, SHM/FHM1 should be considered in differential diagnosis of patients with cerebellar ataxia and migraine with aura...