Ricci E - Search Results

1

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.

Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Anthony K, et al. Among authors: ricci e. JAMA Neurol. 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908. JAMA Neurol. 2014. PMID: 24217213 Free article. Clinical Trial.

2

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S, Tonali P. Servidei S, et al. Among authors: ricci e. Neurology. 1991 Jul;41(7):1053-9. doi: 10.1212/wnl.41.7.1053. Neurology. 1991. PMID: 2067633

3

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.

Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P. Mirabella M, et al. Among authors: ricci e. Neurology. 1993 Nov;43(11):2342-5. doi: 10.1212/wnl.43.11.2342. Neurology. 1993. PMID: 8232953

4

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

Mirabella M, Galluzzi G, Manfredi G, Bertini E, Ricci E, De Leo R, Tonali P, Servidei S. Mirabella M, et al. Among authors: ricci e. Neurology. 1998 Aug;51(2):592-5. doi: 10.1212/wnl.51.2.592. Neurology. 1998. PMID: 9710043

5

Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.

Deodato F, Sabatelli M, Ricci E, Mercuri E, Muntoni F, Sewry C, Naom I, Tonali P, Guzzetta F. Deodato F, et al. Among authors: ricci e. Neuromuscul Disord. 2002 May;12(4):392-8. doi: 10.1016/s0960-8966(01)00312-1. Neuromuscul Disord. 2002. PMID: 12062258

6

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F. Mercuri E, et al. Among authors: ricci e. Neuromuscul Disord. 2005 Feb;15(2):164-71. doi: 10.1016/j.nmd.2004.10.008. Epub 2004 Nov 26. Neuromuscul Disord. 2005. PMID: 15694138

7

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, Rutherford M, Talim B, Ricci E, Voit T, Muntoni F. Mercuri E, et al. Among authors: ricci e. Arch Neurol. 2006 Feb;63(2):251-7. doi: 10.1001/archneur.63.2.251. Arch Neurol. 2006. PMID: 16476814

8

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E, Tonali PA, Ricci E. Pescatori M, et al. Among authors: ricci e. FASEB J. 2007 Apr;21(4):1210-26. doi: 10.1096/fj.06-7285com. Epub 2007 Jan 30. FASEB J. 2007. PMID: 17264171

9

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies.

Morosetti R, Mirabella M, Gliubizzi C, Broccolini A, Sancricca C, Pescatori M, Gidaro T, Tasca G, Frusciante R, Tonali PA, Cossu G, Ricci E. Morosetti R, et al. Among authors: ricci e. Stem Cells. 2007 Dec;25(12):3173-82. doi: 10.1634/stemcells.2007-0465. Epub 2007 Aug 30. Stem Cells. 2007. PMID: 17761758

10

Transcriptional behavior of DMD gene duplications in DMD/BMD males.

Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A. Gualandi F, et al. Among authors: ricci e. Hum Mutat. 2009 Feb;30(2):E310-9. doi: 10.1002/humu.20881. Hum Mutat. 2009. PMID: 18853462

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