Falco M - Search Results

1

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

Falco M, Romano C, Alberti A, Greco D, Scuderi C, Avola E, Failla P, Belli S, Tolmie JL, Amata S, Fichera M. Falco M, et al. Clin Chem. 2005 Dec;51(12):2356-8. doi: 10.1373/clinchem.2005.056036. Clin Chem. 2005. PMID: 16306095 No abstract available.

2

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.

Falco M, Scuderi C, Musumeci S, Sturnio M, Neri M, Bigoni S, Caniatti L, Fichera M. Falco M, et al. Neuromuscul Disord. 2004 Nov;14(11):750-3. doi: 10.1016/j.nmd.2004.05.017. Neuromuscul Disord. 2004. PMID: 15482961

3

Denaturing HPLC-based assay for detection of ATRX gene mutations.

Falco M, Luciano D, Sturnio M, Spalletta A, Scionti D, Lo Giudice M, Romano C, Fichera M. Falco M, et al. Clin Chem. 2005 Jul;51(7):1314-5. doi: 10.1373/clinchem.2005.052407. Clin Chem. 2005. PMID: 15976132 No abstract available.

4

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. Alberti A, et al. Among authors: falco m. Clin Genet. 2007 Feb;71(2):177-82. doi: 10.1111/j.1399-0004.2007.00750.x. Clin Genet. 2007. PMID: 17250668

5

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M. Fichera M, et al. Among authors: falco m. Neurology. 2004 Sep 28;63(6):1108-10. doi: 10.1212/01.wnl.0000138731.60693.d2. Neurology. 2004. PMID: 15452312 Review.

6

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

Lo Giudice M, Neri M, Falco M, Sturnio M, Calzolari E, Di Benedetto D, Fichera M. Lo Giudice M, et al. Among authors: falco m. Arch Neurol. 2006 Feb;63(2):284-7. doi: 10.1001/archneur.63.2.284. Arch Neurol. 2006. PMID: 16476820

7

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.

Grillo L, Reitano S, Belfiore G, Spalletta A, Amata S, Bottitta M, Barone C, Falco M, Fichera M, Romano C. Grillo L, et al. Among authors: falco m. Eur J Med Genet. 2010 Mar-Apr;53(2):113-6. doi: 10.1016/j.ejmg.2010.01.001. Epub 2010 Jan 21. Eur J Med Genet. 2010. PMID: 20096387

8

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

Fichera M, Falco M, Lo Giudice M, Castiglia L, Guarnaccia V, Calì F, Spalletta A, Scuderi C, Avola E. Fichera M, et al. Among authors: falco m. Clin Genet. 2005 May;67(5):446-7. doi: 10.1111/j.1399-0004.2005.00436.x. Clin Genet. 2005. PMID: 15811016 No abstract available.

9

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M. Elia M, et al. Among authors: falco m. Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88. Neurology. 2008. PMID: 18809835

10

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

Mencarelli MA, Tassini M, Pollazzon M, Vivi A, Calderisi M, Falco M, Fichera M, Monti L, Buoni S, Mari F, Engelke U, Wevers RA, Hayek J, Renieri A. Mencarelli MA, et al. Among authors: falco m. Am J Med Genet A. 2011 Oct;155A(10):2446-52. doi: 10.1002/ajmg.a.34208. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910234 Free PMC article.

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