Affiliation: University of Milan
- Proximal myotonic myopathy: a syndrome with a favourable prognosis?Giovanni Meola
Department of Neurology, University of Milan, Istituto Policlinico San Donato, Via Morandi, 30 20097, San Donato Milanese, Milan, Italy
J Neurol Sci 193:89-96. 2002..Further studies of subgroups of PROMM (linked to the 3q21 locus and without linkage) are necessary to determine whether the cardiac conduction disturbances are more common in a specific genotype of PROMM...
- Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)G Meola
Department of Neurology, University of Milan, San Donato Hospital, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy
Neuromuscul Disord 13:813-21. 2003..The results suggest that there is a specific cognitive and behavioural profile in PROMM/DM-2 and in DM-1, and that this profile is associated with hypoperfusion in frontal and parieto-occipital regions of the brain...
- Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A geneAlessandra Tonelli
IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy
J Neurol Sci 241:13-7. 2006....
- Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2Rosanna Cardani
Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, Milan, Italy
PLoS ONE 8:e83777. 2013..In conclusion, our results indicate that multisystemic disease spectrum of DM pathologies may not be explained only by spliceopathy thus confirming that the molecular pathomechanism of DM is more complex than that actually suggested. ..
- Muscle biopsyG Meola
Department of Neurology, IRCCS Policlinico San Donato, University of Milan, Via Morandi, 30, 20097, San Donato Milanese, Milan, Italy
J Neurol 259:601-10. 2012..Muscle biopsy is a useful technique which can make an enormous contribution in the field of neuromuscular disorders but should be considered and interpreted together with the patient's family and clinical history...
- Myotonic dystrophiesG Meola
Department of Neurology, University of Milan, Italy
Curr Opin Neurol 13:519-25. 2000..Only two loci have so far been assigned (19q 13.3 in myotonic dystrophy type 1, and 3q 21.3 in myotonic dystrophy type 2). Although the diagnosis of these disorders may be suspected clinically, it needs to be confirmed by DNA analysis...
- Cerebral involvement in myotonic dystrophiesGiovanni Meola
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, San Donato Hospital, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy
Muscle Nerve 36:294-306. 2007....
- Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathiesG Meola
Istituto Policlinico San Donato, Dipartimento di Neurologia, Cattedra di Clinica Neurologica, Universita di Milano, Ospedale di San Donato, Italy
Eur J Histochem 47:17-28. 2003..DNA-based diagnosis is now a reality for many of the channelopathies. This has obvious genetic counselling, prognostic and therapeutic implications...
- Myotonic dystrophy type 2 and related myotonic disordersGiovanni Meola
Department of Neurology, University of Milan, Istituto Policlinico San Donato, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy
J Neurol 251:1173-82. 2004....
- [Neuroimaging in the early diagnosis of Krabbe leukodystrophy types 1 and 2]G Meola
Universita degli Studi di Milano, IRCCS Policlinico San Donato, UOC di Neurologia e Stroke Unit, Via Morandi, 30 20097 San Donato, Milanese
Pediatr Med Chir 29:221-2. 2007
- Diagnosis and new treatment in muscle channelopathiesG Meola
University of Milan, IRCCS Policlinico San Donato, San Donato Mil, Milan, Italy
J Neurol Neurosurg Psychiatry 80:360-5. 2009..In this review, we will focus on diagnosis and treatments of muscle channelopathies of relevance to the clinical neurologist...
- Clinical and genetic heterogeneity in myotonic dystrophiesG Meola
Dipartimento di Neurologia, Istituto Policlinico San Donato, Universita di Milano, Via Morandi, 30, 20097 San Donato Milanese, Milano, Italy
Muscle Nerve 23:1789-99. 2000..3 (DM1); DM2/PROMM and PDM linked to chromosome 3q21.3; and families not linked to either chromosomal site. Although the diagnosis may be clinically suspected, it depends on DNA analysis...
- Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myologyG Meola
Dipartimento di Neurologia, Universita di Milano, Policlinico S Donato S Donato Milanese MI Italy
Eur J Histochem 49:93-6. 2005..These tools improved the diagnostic accuracy and made possible the identification of new changes and structures (Engel and Cunningham, 1963; Scarlato, 1975)...
- Deregulated microRNAs in myotonic dystrophy type 2Simona Greco
IRCCS Policlinico San Donato, Milan, Italy
PLoS ONE 7:e39732. 2012..Pathway and function analysis highlighted the involvement of the miRNA-deregulated mRNAs in multiple aspects of DM2 pathophysiology. In conclusion, the observed miRNA dysregulations may contribute to DM2 pathogenetic mechanisms...
- Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1Riccardo Perbellini
Molecular Cardiology Laboratory, IRCCS Policlinico San Donato, 20097 Milan, Italy
Neuromuscul Disord 21:81-8. 2011..The observed miRNA dysregulations and myslocalizations may contribute to DM1 pathogenetic mechanisms...
- Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2Rosanna Cardani
Lab of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, Milan, Italy
J Neurol 259:2090-9. 2012..Biomolecular findings did not explain the unusual young onset in the daughter. The co-segregation of DM2 with a recessive CLCN1 mutation provided the explanation for the unusual clinical findings...
- Treatment in myotonia and periodic paralysisG Meola
Department of Neurology, University of Milan, Istituto Policlinico San Donato, Italy
Rev Neurol (Paris) 160:S55-69. 2004....
- Therapy in myotonic disorders and in muscle channelopathiesG Meola
Department of Neurology, University of Milan, Istituto Policlinico San Donato, San Donato Milanese MI, Italy
Neurol Sci 21:S953-61. 2000..Future genotype-phenotype correlations using the patch-clamp technique are also illustrated...
- Plasma microRNAs as biomarkers for myotonic dystrophy type 1Alessandra Perfetti
Policlinico San Donato IRCCS, San Donato Milanese, Milan, Italy
Neuromuscul Disord 24:509-15. 2014..In conclusion, we identified a characteristic plasma miRNA signature of DM1. Although preliminary, this study indicates miRNAs as potential DM1 humoral biomarkers. ..
- Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessmentsRea Valaperta
Research Laboratories Molecular Biology, IRCCS Policlinico San Donato, Piazza E Malan 2, San Donato Milanese, 20097 Milan, Italy
Biomed Res Int 2013:958510. 2013..Our findings suggest that this assay appears to be a very robust and reliable molecular test, showing high reproducibility and giving an unambiguous interpretation of results...
- Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2Alessandra Perfetti
Molecular Cardiology Laboratory, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy
PLoS ONE 9:e93983. 2014..The affected genes are involved in numerous pathways and networks important for muscle physio-pathology, suggesting that the identified variants may contribute to DM2 pathogenesis. ..
- Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsiesR Cardani
Department of Molecular Biology and Biotechnologies, University of Milan, Italy
Eur J Histochem 53:107-11. 2009....
- Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2Rosanna Cardani
Department of Molecular Biology and Biotechnologies, University of Milan, Milan, Italy
Neuromuscul Disord 19:335-43. 2009..Our data seem indicate that the presence of ribonuclear inclusions and MBNL1 nuclear foci are involved in alteration of alternative splicing but do not impair DM2 myogenic differentiation...
- Proteome profile in Myotonic Dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathwaysFrancesco Rusconi
Dipartimento di Scienze Biomolecolari e Biotecnologie, Universita degli Studi di Milano, Milan, Italy
Neurobiol Dis 38:273-80. 2010....
- Contrast-induced seizures after cardiac catheterization in a 6-year-old childValeria Sansone
Department of Neurology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy
Pediatr Neurol 36:268-70. 2007....
- Long-term follow-up free of ventricular fibrillation recurrence after resuscitated cardiac arrest in a myotonic dystrophy type 1 patientValeria A Sansone
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Italy
Europace 11:1243-4. 2009..We describe a 38-year-old man in whom the diagnosis of DM1 was made 8 years after occurrence of cardiac arrest owing to ventricular fibrillation and discuss management of DM1 patients at risk for sudden cardiac death...
- Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2R Cardani
Department of Molecular Biology and Biotechnologies, University of Milan, Italy
Eur J Histochem 50:177-82. 2006..These findings indicate that MBNLs might be important targets for therapeutic interventions to correct some of the specific features of DM pathology...
- Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseasesV A Sansone
Department Neurology, University of Milan, IRCCS Policlinico San Donato, Italy
Eur J Neurol 17:1178-87. 2010..The purpose of our work was: (i) To validate INQoL in Italy on a larger sample of adult patients with muscle diseases (ii) to compare INQoL to SF-36...
- Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansionS Lucchiari
Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Fondazione I R C C S Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
J Neurol Sci 275:159-63. 2008..This is one of the smallest expansion reported and the shortest with the evidence of nuclear foci. These data contribute to the clinical and molecular correlation of ZNF9 gene short expansion...
- Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsyR Cardani
Dipartimento di Fisiologia e Biochimica Generali, Universita di Milano, Italy
Eur J Histochem 48:437-42. 2004..Moreover, the procedure is simple, and readily applicable in any pathology laboratory...
- Clinical aspects, molecular pathomechanisms and management of myotonic dystrophiesGiovanni Meola
Department of Neurology and Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, University of Milan, Italy
Acta Myol 32:154-65. 2013..The long delay in the diagnosis of DM causes unnecessary problems for the patients to manage their lives and anguish with uncertainty of prognosis and treatment. ..
- Dysfunction of protein homeostasis in myotonic dystrophiesGiovanni Meola
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, San Donato, Milan, Italy
Histol Histopathol 28:1089-98. 2013..We will also discuss a possible role of misbalanced protein turnover in the age-dependent progression of DM1 and in a late onset of DM2. ..
- Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemiaSimona Greco
Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, San Donato Milanese, Milan, Italy
FASEB J 23:3335-46. 2009..These findings show an important role of miRNAs in physiopathological pathways regulating muscle response to damage and regeneration...
- A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1R Cardani
Department of Molecular Biology and Biotechnologies, University of Milan, Italy
Neuromuscul Disord 18:641-5. 2008..These results suggest that nuclear accumulation of MBNL1 and ribonuclear inclusions may have a direct adverse effect on gallbladder smooth muscle contractility and thus contribute to gallstones formation in DM1 patients...
- Cognitive impairment in adult myotonic dystrophies: a longitudinal studyV Sansone
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Via Morandi 30, I 20097 San Donato Milanese, Italy
Neurol Sci 28:9-15. 2007..01), in both DM1 and DM2. DM2 is a progressive muscle disorder, although less severe than DM1. In both DM1 and DM2 frontal cognitive impairment (attentional) worsens over time but does not extend to additional areas of cognition...
- Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patientsGianna Ulzi
Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Fondazione Cà Granda Ospedale Maggiore Policlinico, Milan, Italy
J Neurol Sci 318:65-71. 2012..Furthermore, we provide insights into the fine protein structure of ClC-1 and its physiological role in the maintenance of membrane resting potential...
- Is it too early to recommend patent foramen ovale closure for all patients who suffer from migraine? A single-centre studyMassimo Chessa
Department of Pediatric Cardiology and Adult with Congenital Heart Defect, IRCCS Policlinico San Donato, Milan, Italy
J Cardiovasc Med (Hagerstown) 10:401-5. 2009..To evaluate the course of migraine in migraine headache patients undergoing patent foramen ovale (PFO) transcatheter closure...
- Systematic review and meta-analysis of currently available clinical evidence on migraine and patent foramen ovale percutaneous closure: much ado about nothing?Gianfranco Butera
Department of Pediatric Cardiology and GUCH Unit, Policlinico San Donato, IRCCS, San Donato Milanese, Italy
Catheter Cardiovasc Interv 75:494-504. 2010..To investigate the role of transcatheter closure of patent foramen ovale on the occurrence of migraine...
- Increased apoptosis, Huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjectsA Ciammola
Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Center, University of Milan Medical School, IRCCS Istituto Auxologico Italiano, Milan, Italy
Cell Death Differ 13:2068-78. 2006..This study helps to advance current knowledge about the downstream effects of the htt mutation in human tissues. Further applications may include drug screening using this human cellular model...
- Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2Annalisa Botta
Department of Biopathology, Tor Vergata University of Rome, Rome, Italy
Gene Expr 13:339-51. 2007..Our results indicate that the DM1 and DM2 overlapping clinical phenotypes may derive from a common trans acting mechanism that traps and influences shared genes and proteins...
- A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegiaAlessia Arnoldi
Laboratory of Molecular Biology, Scientific Institute E Medea, Bosisio Parini, Italy
Hum Mutat 29:522-31. 2008..Overall, our data confirm that SPG7 point mutations are rare causes of HSP, in both sporadic and familial forms, while underlying the puzzling and intriguing aspects of histological and biochemical consequences of paraplegin loss...
- Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)Martin Tristani-Firouzi
Division of Pediatric Cardiology, University of Utah, Salt Lake City, Utah 84112, USA
J Clin Invest 110:381-8. 2002..These findings suggest that the substrate for arrhythmia susceptibility in AS is distinct from the other forms of inherited LQT syndrome...
- Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effectLinda L Bachinski
Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
Am J Hum Genet 73:835-48. 2003..Taken together, these data suggest a single founding mutation in DM2 patients of European origin. We estimate the age of the founding haplotype and of the DM2 (CCTG) expansion mutation to be approximately 200-540 generations...
- Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The NetherlandsRichard T Moxley
Department of Neurology, University of Rochester, Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA
Neuromuscul Disord 12:306-17. 2002