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Organisation | Principal Investigator | Bank activity | Key publications

.:: Organisation

Bank for the Diagnosis and Research on Neuromuscular Disorders (NHMGB)

Seconda Università degli Studi di Napoli (SUN)
Servizio di Cardiomiologia e Genetica Medica
I Policlinico – Piazza Miraglia
80138 Napoli
Italy


 


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.:: Principal Investigator

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Luisa Politano, MD, PhD.

E-Mail: luisa.politano@unina2.it
Phone: +39 081 566 5103/5102/5300
Fax : + 39 081 566 5100





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.:: Bank activity

The Bank for the Diagnosis and Research on Neuromuscular Disorders (NHMGB) has been in operation since 1991. Since it was first established, it has collected, prepared and stored more than 6500 DNA and tissues from patients and their family, affected by different neuromuscular disorders and primary cardiomyopathies. The whole bank activity respects the Italian regulations, in the best technical and ethical possible conditions, and is managed through a database registered with the local authorities. The NHMGB has a concrete know-how of banking techniques, samples and data storage, safety and quality issues.

 

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.:: Key publications

• Trimarco A, Torella A, Piluso G, Maria Ventriglia V, Politano L, Nigro V. Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations. Clin Chem. 2008 Jun;54(6):973-81. Epub 2008 Apr 10.

• Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V. Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat. 2008 Feb;29(2):240-7.

• Rinaldi F, Botta A, Vallo L, Contino G, Morgante A, Iraci R, Catalli C, Silvestri G, Ventriglia VM, Politano L, Novelli G. Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. Acta Myol. 2008 Dec;27:82-9.

• Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet. 2005 Sep;42(9):686-93.

• Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C. Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat. 2005 Jan;25(1):82-9.


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