Piluso G - Search Results

1

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: piluso g. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 Free PMC article.

2

Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype.

Santoro C, Boccia R, Iovino C, Piluso G, Perrotta S, Simonelli F. Santoro C, et al. Among authors: piluso g. Eur J Hum Genet. 2023 Feb;31(2):136-137. doi: 10.1038/s41431-022-01236-1. Epub 2022 Nov 21. Eur J Hum Genet. 2023. PMID: 36404348 Free PMC article. No abstract available.

3

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. Nigro V, et al. Among authors: piluso g. Hum Mol Genet. 1995 Oct;4(10):2003-4. doi: 10.1093/hmg/4.10.2003. Hum Mol Genet. 1995. PMID: 8595433 No abstract available.

4

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.

Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M. Nigro V, et al. Among authors: piluso g. Nat Genet. 1996 Oct;14(2):195-8. doi: 10.1038/ng1096-195. Nat Genet. 1996. PMID: 8841194

5

Identification and characterization of a novel member of the dystrobrevin gene family.

Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B. Puca AA, et al. Among authors: piluso g. FEBS Lett. 1998 Mar 20;425(1):7-13. doi: 10.1016/s0014-5793(98)00097-0. FEBS Lett. 1998. PMID: 9540997 Free article.

6

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V. Piluso G, et al. Hum Genet. 2003 Feb;112(2):124-30. doi: 10.1007/s00439-002-0863-7. Epub 2002 Nov 13. Hum Genet. 2003. PMID: 12522552

7

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan CP, Politano L, Nigro V, Angelini C. Fanin M, et al. Among authors: piluso g. Hum Mutat. 2004 Jul;24(1):52-62. doi: 10.1002/humu.20058. Hum Mutat. 2004. PMID: 15221789

8

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: piluso g. Hum Mutat. 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. Hum Mutat. 2005. PMID: 15580566

9

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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. Piluso G, et al. J Med Genet. 2005 Sep;42(9):686-93. doi: 10.1136/jmg.2004.028738. J Med Genet. 2005. PMID: 16141003 Free PMC article.

10

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: piluso g. Hum Mutat. 2008 Feb;29(2):240-7. doi: 10.1002/humu.20633. Hum Mutat. 2008. PMID: 17994549

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