- 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...
- 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...
- 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...
- 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
- 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. ..
- 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...
- 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...
- 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
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...