Ricci E - Search Results

1

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

2

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

3

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

Uncini A, Galluzzi G, Di Muzio A, De Angelis MV, Ricci E, Scoppetta C, Servidei S. Uncini A, et al. Among authors: ricci e. Neuromuscul Disord. 2002 Nov;12(9):874-7. doi: 10.1016/s0960-8966(02)00027-5. Neuromuscul Disord. 2002. PMID: 12398841 Clinical Trial.

4

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: ricci e. Neuromuscul Disord. 2002 Dec;12(10):958-63. doi: 10.1016/s0960-8966(02)00178-5. Neuromuscul Disord. 2002. PMID: 12467752

5

Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy.

Di Lazzaro V, Oliviero A, Tonali PA, Felicetti L, De Marco MB, Saturno E, Pilato F, Pescatori M, Dileone M, Pasqualetti P, Ricci E. Di Lazzaro V, et al. Among authors: ricci e. Neuromuscul Disord. 2004 Jan;14(1):39-45. doi: 10.1016/j.nmd.2003.08.002. Neuromuscul Disord. 2004. PMID: 14659411

6

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V. Piluso G, et al. Among authors: ricci e. J Med Genet. 2005 Sep;42(9):686-93. doi: 10.1136/jmg.2004.028738. J Med Genet. 2005. PMID: 16141003 Free PMC article.

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

Expanding the clinical spectrum of POMT1 phenotype.

D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Among authors: ricci e. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220

9

Feeding problems and weight gain in Duchenne muscular dystrophy.

Pane M, Vasta I, Messina S, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Ricci E, Mercuri E. Pane M, et al. Among authors: ricci e. Eur J Paediatr Neurol. 2006 Sep-Nov;10(5-6):231-6. doi: 10.1016/j.ejpn.2006.08.008. Epub 2006 Oct 10. Eur J Paediatr Neurol. 2006. PMID: 17045498

10

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: ricci e. Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2. Neuromuscul Disord. 2008. PMID: 18513969

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