Ricci E - Search Results

1

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E. Tasca G, et al. Among authors: ricci e. Neurology. 2013 Mar 5;80(10):963-5. doi: 10.1212/WNL.0b013e3182840cbc. Epub 2013 Feb 6. Neurology. 2013. PMID: 23390185 No abstract available.

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

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.

Bertini E, Gadisseux JL, Palmieri G, Ricci E, Di Capua M, Ferriere G, Lyon G. Bertini E, et al. Among authors: ricci e. Am J Med Genet. 1989 Jul;33(3):328-35. doi: 10.1002/ajmg.1320330309. Am J Med Genet. 1989. PMID: 2801766

4

Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs.

Ricci E, Bertini E, Boldrini R, Sabatelli M, Servidei S, Mazziotta MR, Bosman C, Tonali P. Ricci E, et al. Am J Med Genet. 1988 Dec;31(4):933-42. doi: 10.1002/ajmg.1320310428. Am J Med Genet. 1988. PMID: 3239582

5

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

6

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family.

Manfredi G, Silvestri G, Servidei S, Ricci E, Mirabella M, Bertini E, Papacci M, Rana M, Tonali P. Manfredi G, et al. Among authors: ricci e. J Neurol Sci. 1993 Mar;115(1):91-4. doi: 10.1016/0022-510x(93)90071-6. J Neurol Sci. 1993. PMID: 8468596

7

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).

Silvestri G, Bertini E, Servidei S, Rana M, Zachara E, Ricci E, Tonali P. Silvestri G, et al. Among authors: ricci e. Muscle Nerve. 1997 Feb;20(2):221-5. doi: 10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5. Muscle Nerve. 1997. PMID: 9040662

8

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

9

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. Ricci E, et al. Ann Neurol. 1999 Jun;45(6):751-7. doi: 10.1002/1531-8249(199906)45:6<751::aid-ana9>3.0.co;2-m. Ann Neurol. 1999. PMID: 10360767

10

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M. Broccolini A, et al. Among authors: ricci e. Hum Mutat. 2004 Jun;23(6):632. doi: 10.1002/humu.9252. Hum Mutat. 2004. PMID: 15146476

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