Sabatelli P - Search Results

1

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.

Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Bovolenta M, et al. Among authors: sabatelli p. BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44. BMC Med Genet. 2010. PMID: 20302629 Free PMC article.

2

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: sabatelli p. Hum Mol Genet. 1997 Dec;6(13):2257-64. doi: 10.1093/hmg/6.13.2257. Hum Mol Genet. 1997. PMID: 9361031

3

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. Neuromuscul Disord. 1998 Apr;8(2):67-71. doi: 10.1016/s0960-8966(97)00147-8. Neuromuscul Disord. 1998. PMID: 9608558

4

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.

Villanova M, Sabatelli P, He Y, Malandrini A, Petrini S, Maraldi NM, Merlini L. Villanova M, et al. Among authors: sabatelli p. Acta Neuropathol. 1998 Dec;96(6):651-4. doi: 10.1007/s004010050947. Acta Neuropathol. 1998. PMID: 9845296

5

Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.

Merlini L, Villanova M, Sabatelli P, Malandrini A, Maraldi NM. Merlini L, et al. Among authors: sabatelli p. Neuromuscul Disord. 1999 Jul;9(5):326-9. doi: 10.1016/s0960-8966(99)00022-x. Neuromuscul Disord. 1999. PMID: 10407855

6

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Villanova M, et al. Among authors: sabatelli p. Neuromuscul Disord. 2000 Dec;10(8):541-7. doi: 10.1016/s0960-8966(00)00139-5. Neuromuscul Disord. 2000. PMID: 11053679

7

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G. Camacho Vanegas O, et al. Among authors: sabatelli p. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21. doi: 10.1073/pnas.121027598. Epub 2001 May 29. Proc Natl Acad Sci U S A. 2001. PMID: 11381124 Free PMC article.

8

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts.

Sabatelli P, Bonaldo P, Lattanzi G, Braghetta P, Bergamin N, Capanni C, Mattioli E, Columbaro M, Ognibene A, Pepe G, Bertini E, Merlini L, Maraldi NM, Squarzoni S. Sabatelli P, et al. Matrix Biol. 2001 Nov;20(7):475-86. doi: 10.1016/s0945-053x(01)00160-3. Matrix Biol. 2001. PMID: 11691587

9

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G. Vanegas OC, et al. Among authors: sabatelli p. Muscle Nerve. 2002 Apr;25(4):513-9. doi: 10.1002/mus.10100. Muscle Nerve. 2002. PMID: 11932968

10

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Demir E, et al. Among authors: sabatelli p. Am J Hum Genet. 2002 Jun;70(6):1446-58. doi: 10.1086/340608. Epub 2002 Apr 24. Am J Hum Genet. 2002. PMID: 11992252 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

148 results

Search Page

Filters