Toniolo D - Search Results

1

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Bonne G, et al. Among authors: toniolo d. Nat Genet. 1999 Mar;21(3):285-8. doi: 10.1038/6799. Nat Genet. 1999. PMID: 10080180 Clinical Trial.

2

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: toniolo d. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

3

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.

Bonne G, Yaou RB, Béroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M. Bonne G, et al. Among authors: toniolo d. Neuromuscul Disord. 2003 Aug;13(6):508-15. doi: 10.1016/s0960-8966(03)00063-4. Neuromuscul Disord. 2003. PMID: 12899879 Review. No abstract available.

4

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.

Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, Di Blasi C, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D. Cartegni L, et al. Among authors: toniolo d. Hum Mol Genet. 1997 Dec;6(13):2257-64. doi: 10.1093/hmg/6.13.2257. Hum Mol Genet. 1997. PMID: 9361031

5

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Raffaele Di Barletta M, et al. Among authors: toniolo d. Am J Hum Genet. 2000 Apr;66(4):1407-12. doi: 10.1086/302869. Epub 2000 Mar 16. Am J Hum Genet. 2000. PMID: 10739764 Free PMC article.

6

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D. Vytopil M, et al. Among authors: toniolo d. Neuromuscul Disord. 2002 Dec;12(10):958-63. doi: 10.1016/s0960-8966(02)00178-5. Neuromuscul Disord. 2002. PMID: 12467752

7

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers.

Sabatelli P, Squarzoni S, Petrini S, Capanni C, Ognibene A, Cartegni L, Cobianchi F, Merlini L, Toniolo D, Maraldi NM. Sabatelli P, et al. Among authors: toniolo d. Neuromuscul Disord. 1998 Apr;8(2):67-71. doi: 10.1016/s0960-8966(97)00147-8. Neuromuscul Disord. 1998. PMID: 9608558

8

Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.

Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A. Boriani G, et al. Among authors: toniolo d. Stroke. 2003 Apr;34(4):901-8. doi: 10.1161/01.STR.0000064322.47667.49. Epub 2003 Mar 20. Stroke. 2003. PMID: 12649505

9

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Bione S, et al. Among authors: toniolo d. Nat Genet. 1994 Dec;8(4):323-7. doi: 10.1038/ng1294-323. Nat Genet. 1994. PMID: 7894480

10

X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.

Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. Mora M, et al. Among authors: toniolo d. Ann Neurol. 1997 Aug;42(2):249-53. doi: 10.1002/ana.410420218. Ann Neurol. 1997. PMID: 9266737

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