V A Sansone
Affiliation: University of Milan
- Management and treatment of Andersen-Tawil syndrome (ATS)Valeria Sansone
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy 20097
Neurotherapeutics 4:233-7. 2007..We review the clinical, laboratory, and genetic features of this disorder with particular emphasis on treatment and management...
- The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomesV A Sansone
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Italy Electronic address
Int J Cardiol 168:1147-53. 2013..The aims of our study were to determine the frequency and progression of cardiac and muscle involvement in a relatively large cohort of patients with DM2 throughout Italy and Germany and to provide long-term outcomes in this disorder...
- Measuring quality of life impairment in skeletal muscle channelopathiesV A Sansone
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy
Eur J Neurol 19:1470-6. 2012..The aims of our study were to assess QoL in skeletal muscle channelopathies (SMC) using INQoL (individualized QoL) and SF-36 questionnaires...
- 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...
- 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....
- 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...
- 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....
- Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophiesE Passeri
Endocrinology and Diabetology Unit, Dept of Biomedical Sciences for Health, University of Milan, Milan, Italy
J Neurol Sci 331:132-5. 2013....
- 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...
- 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...