Cecchin S - Search Results

1

Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.

Maltese PE, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina SY, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso L. Maltese PE, et al. Among authors: cecchin s. Genet Mol Res. 2016 Jul 29;15(3). doi: 10.4238/gmr.15038717. Genet Mol Res. 2016. PMID: 27525900 Free article.

2

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M. D'Agostino D, et al. Among authors: cecchin s. Neurology. 2004 Oct 26;63(8):1500-2. doi: 10.1212/01.wnl.0000142093.94998.1a. Neurology. 2004. PMID: 15505175

3

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.

Bertelli M, Gallo S, Buda A, Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M. Bertelli M, et al. Among authors: cecchin s. J Clin Neurosci. 2006 May;13(4):443-8. doi: 10.1016/j.jocn.2005.03.039. J Clin Neurosci. 2006. PMID: 16678723

4

Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis.

Bertelli M, Cecchin S, Lorusso L, Sidoti V, Fabbri A, Lapucci C, Buda A, Pandolfo M. Bertelli M, et al. Among authors: cecchin s. Panminerva Med. 2006 Sep;48(3):193-7. Panminerva Med. 2006. PMID: 17122756

5

Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease.

Oldani M, Marchi S, Giani A, Cecchin S, Rigoni E, Persi A, Podavini D, Guerrini A, Nervegna A, Staurenghi G, Bertelli M. Oldani M, et al. Among authors: cecchin s. Genet Mol Res. 2012 Dec 17;11(4):4342-50. doi: 10.4238/2012.October.9.3. Genet Mol Res. 2012. PMID: 23096905 Free article.

6

Polymorphisms of alpha-actinin-3 and ciliary neurotrophic factor in national-level Italian athletes.

Persi A, Maltese PE, Bertelli M, Cecchin S, Ciaghi M, Guarnieri MC, Agnello L, Maggioni MA, Merati G, Veicsteinas A. Persi A, et al. Among authors: cecchin s. Panminerva Med. 2013 Jun;55(2):217-24. Panminerva Med. 2013. PMID: 23676962

7

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M. Pierrottet CO, et al. Among authors: cecchin s. Genet Mol Res. 2014 Oct 27;13(4):8815-33. doi: 10.4238/2014.October.27.23. Genet Mol Res. 2014. PMID: 25366773 Free article.

8

Polymorphism of UGT1A1*28 (TA)7 and liver damage in hepatitis B virus-positive patients in Albania.

Marku E, Maltese PE, Koni M, Capodicasa N, Qendro IS, Rigoni E, Cecchin S, Bertelli M. Marku E, et al. Among authors: cecchin s. Genet Mol Res. 2015 May 18;14(2):5221-8. doi: 10.4238/2015.May.18.13. Genet Mol Res. 2015. PMID: 26125716 Free article.

9

Genetic polymorphisms and retinal vein occlusion in an Italian population.

De Polo L, Maltese PE, Rigoni E, Bertelli M, Cecchin S, Staurenghi G, Stoppa G. De Polo L, et al. Among authors: cecchin s. Genet Mol Res. 2015 Oct 27;14(4):13337-41. doi: 10.4238/2015.October.26.30. Genet Mol Res. 2015. PMID: 26535647 Free article.

10

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity.

Paolini B, Maltese PE, Del Ciondolo I, Tavian D, Missaglia S, Ciuoli C, Zuntini M, Cecchin S, Bertelli M, Pompucci G. Paolini B, et al. Among authors: cecchin s. Genet Mol Res. 2016 Aug 19;15(3). doi: 10.4238/gmr.15038718. Genet Mol Res. 2016. PMID: 27706562 Free article.

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