Affiliation: Second University of Naples
- Gentamicin administration in Duchenne patients with premature stop codon. Preliminary resultsL Politano
Department of Clinical and Experimental Medicine and Surgery, Section of Cardiomyology and Medical Genetics, 2nd University of Naples, Italy
Acta Myol 22:15-21. 2003..These results suggest that gentamicin is able to recover dystrophin expression in a subset of Duchenne patients with nonsense mutations, raising the possibility of the first pharmacological treatment for muscular dystrophy...
- Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal resultsLuisa Politano
Cardiomyology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Italy
Acta Myol 31:24-30. 2012..Several drugs have been employed with the aim to contrast the evolution of cardiomyopathy toward stages of severe congestive heart failure. A review of cardiac treatment in DMD and personal experience are reported and discussed...
- ST-segment displacement in Duchenne muscular dystrophy: myocardial necrosis or apoptosis?L Politano
Dipartimento Medico Chirurgico di Internistica Clinica e Sperimentale, Sezione di Cardiomiologia e Genetica Medica, Seconda Universita di Napoli, Piazza Miraglia, 80138 Napoli, Italy
Acta Myol 22:5-10. 2003..Clinical features of this uncommon pattern are described, with the retrospective evaluation of similar cases from personal records. The differential diagnosis between myocardial necrosis and apoptosis is discussed...
- Evaluation of cardiac and respiratory involvement in sarcoglycanopathiesL Politano
Dipartimento di Internistica Clinica e Sperimentale, Sezione di Cardiomiologia e Genetica Medica, Seconda Universita di Napoli, I Policlinico, Piazza Miraglia, 80138, Naples, Italy
Neuromuscul Disord 11:178-85. 2001..A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%...
- Cardiac treatment in neuro-muscular diseasesG Nigro
Department of Experimental Medicine, Cardiomyology and Medical Genetics Service, Second University of Naples, Italy
Acta Myol 25:119-23. 2006..The results show the usefulness of the recent protocols of treatment of cardiac involvement in muscle dystrophy patients...
- Cardiomyopathies: diagnosis of types and stagesG Nigro
Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second Naples University, Naples, Italy
Acta Myol 23:97-102. 2004..In the course of their evolution, cardiomyopathies can shift from a clinical picture to another, consequently requiring frequent examinations of patients in order to adjust their treatment...
- Usefulness of heart rate variability as a predictor of sudden cardiac death in muscular dystrophiesL Politano
Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Naples, Naples, Italy
Acta Myol 27:114-22. 2008..Usefulness of heart rate variability as a predictor of sudden cardiac death in muscular dystrophies has been reviewed...
- Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypesG Piluso
Dipartimento di Patologia Generale e Centro di Eccellenza per le malattie cardiovascolari, Seconda Universita di Napoli, Naples, Italy
J Med Genet 42:686-93. 2005..Seventeen autosomal loci have been so far identified and genetic tests are mandatory to distinguish among the forms. Mutations at the calpain 3 locus (CAPN3) cause LGMD type 2A...
- Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocolsW D Biggar
Bloorview MacMillan Children s Centre, 150 Kilgour Road, Toronto, Ont M4G 1R8, Canada
Neuromuscul Disord 14:476-82. 2004..However, the protocol-T seems to be more effective and frequently is associated with asymptomatic cataracts...
- Is the value of QT dispersion a valid method to foresee the risk of sudden death? A study in Becker patientsGe Nigro
Electrophysiologic Service of Cardiological Department, Second Naples University, Naples, Italy
Heart 87:156-7. 2002
- Vertebral compression in Duchenne muscular dystrophy following deflazacortB Talim
Laboratory of Neuromuscular Pathology, Istituto Ortopedico Rizzoli, Bologna, Italy
Neuromuscul Disord 12:294-5. 2002
- Research against incurability. Treatment of lethal neuromuscular diseases focused on Duchenne Muscular DystrophyY Rideau
Duchenne International Institute, Poitiers University, France
Acta Myol 23:163-78. 2004
- Is heart rate variability a valid parameter to predict sudden death in patients with Becker's muscular dystrophy?E Ammendola
Heart 92:1686-7. 2006
- Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan geneV Nigro
Istituto di Patologia Generale e Oncologia, Facolta di Medicina, Seconda Universita degli Studi di Napoli, Italy
Nat Genet 14:195-8. 1996..We now show that a homozygous mutation in the delta SG gene (a single nucleotide deletion that alters its reading frame) is the cause of LGMD2F...
- Novel small mutations along the DMD/BMD gene associated with different phenotypesV Nigro
Istituto di Patologia Generale ed Oncologia, , , Italy
Hum Mol Genet 3:1907-8. 1994
- Detection of a nonsense mutation in the dystrophin gene by multiple SSCPV Nigro
Istituto di Patologia Generale e Oncologia, I Facoltà di Medicina Università di Napoli, Italy
Hum Mol Genet 1:517-20. 1992..The patient inherited this mutation from his mother. In addition the analysis revealed 5 polymorphisms useful for internal control...