Tupler R - Search Results

1

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R. Scionti I, et al. Among authors: tupler r. J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3. J Med Genet. 2012. PMID: 22217918

2

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Tupler R, et al. J Med Genet. 1996 May;33(5):366-70. doi: 10.1136/jmg.33.5.366. J Med Genet. 1996. PMID: 8733044 Free PMC article.

3

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, Tiepolo L, Ferlini A. Tupler R, et al. J Med Genet. 1998 Sep;35(9):778-83. doi: 10.1136/jmg.35.9.778. J Med Genet. 1998. PMID: 9733041 Free PMC article.

4

Molecular basis of facioscapulohumeral muscular dystrophy.

Tupler R, Gabellini D. Tupler R, et al. Cell Mol Life Sci. 2004 Mar;61(5):557-566. doi: 10.1007/s00018-003-3285-3. Cell Mol Life Sci. 2004. PMID: 15004695 Free PMC article. Review.

5

Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study.

Sposìto R, Pasquali L, Galluzzi F, Rocchi A, Solìto B, Soragna D, Tupler R, Siciliano G. Sposìto R, et al. Among authors: tupler r. Genet Test. 2005 Spring;9(1):30-6. doi: 10.1089/gte.2005.9.30. Genet Test. 2005. PMID: 15857184

6

Altered gene silencing and human diseases.

Perini G, Tupler R. Perini G, et al. Among authors: tupler r. Clin Genet. 2006 Jan;69(1):1-7. doi: 10.1111/j.1399-0004.2005.00540.x. Clin Genet. 2006. PMID: 16451126 Review.

7

Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia.

Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Barchitta A. Trevisan CP, et al. Eur Neurol. 2006;56(1):1-5. doi: 10.1159/000094248. Epub 2006 Jun 27. Eur Neurol. 2006. PMID: 16804309

8

Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function.

Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Marioni G, Rimini A. Trevisan CP, et al. Audiol Neurootol. 2008;13(1):1-6. doi: 10.1159/000107431. Epub 2007 Aug 22. Audiol Neurootol. 2008. PMID: 17715463

9

Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.

Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G. Filosto M, et al. Among authors: tupler r. Neuromuscul Disord. 2008 Mar;18(3):204-9. doi: 10.1016/j.nmd.2007.12.005. Epub 2008 Mar 14. Neuromuscul Disord. 2008. PMID: 18343111

10

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.

Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R. Lamperti C, et al. Among authors: tupler r. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671. Muscle Nerve. 2010. PMID: 20544930

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