Politano L - Search Results

1

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Among authors: politano l. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406

2

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C. Fulizio L, et al. Among authors: politano l. Hum Mutat. 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. Hum Mutat. 2005. PMID: 15580566

3

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V. Saccone V, et al. Among authors: politano l. Hum Mutat. 2008 Feb;29(2):240-7. doi: 10.1002/humu.20633. Hum Mutat. 2008. PMID: 17994549

4

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

Trimarco A, Torella A, Piluso G, Maria Ventriglia V, Politano L, Nigro V. Trimarco A, et al. Among authors: politano l. Clin Chem. 2008 Jun;54(6):973-81. doi: 10.1373/clinchem.2007.097881. Epub 2008 Apr 10. Clin Chem. 2008. PMID: 18403565

5

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella A, Trimarco A, Blanco Fdel V, Cuomo A, Aurino S, Piluso G, Minetti C, Politano L, Nigro V. Torella A, et al. Among authors: politano l. J Mol Diagn. 2010 Jan;12(1):65-73. doi: 10.2353/jmoldx.2010.090074. Epub 2009 Dec 3. J Mol Diagn. 2010. PMID: 19959795 Free PMC article.

6

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V. Cacciottolo M, et al. Among authors: politano l. Eur J Hum Genet. 2011 Sep;19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522182 Free PMC article.

7

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.

Piluso G, Dionisi M, Del Vecchio Blanco F, Torella A, Aurino S, Savarese M, Giugliano T, Bertini E, Terracciano A, Vainzof M, Criscuolo C, Politano L, Casali C, Santorelli FM, Nigro V. Piluso G, et al. Among authors: politano l. Clin Chem. 2011 Nov;57(11):1584-96. doi: 10.1373/clinchem.2011.168898. Epub 2011 Sep 6. Clin Chem. 2011. PMID: 21896784 Free article.

8

Cardiac involvement in patients with spinal muscular atrophies.

Palladino A, Passamano L, Taglia A, D'Ambrosio P, Scutifero M, Cecio MR, Picillo E, Viggiano E, Torre V, De Luca F, Nigro G, Politano L. Palladino A, et al. Among authors: politano l. Acta Myol. 2011 Dec;30(3):175-8. Acta Myol. 2011. PMID: 22616198 Free PMC article.

9

Genetic counseling in Pompe disease.

Taglia A, Picillo E, D'Ambrosio P, Cecio MR, Viggiano E, Politano L. Taglia A, et al. Among authors: politano l. Acta Myol. 2011 Dec;30(3):179-81. Acta Myol. 2011. PMID: 22616199 Free PMC article.

10

Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.

Taglia A, Petillo R, D'Ambrosio P, Picillo E, Torella A, Orsini C, Ergoli M, Scutifero M, Passamano L, Palladino A, Nigro G, Politano L. Taglia A, et al. Among authors: politano l. Acta Myol. 2015 May;34(1):9-13. Acta Myol. 2015. PMID: 26155064 Free PMC article.

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