Ricci E - Search Results

1

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.

Masciullo M, Iannaccone E, Bianchi ML, Santoro M, Conte G, Modoni A, Monforte M, Tasca G, Laschena F, Ricci E, Silvestri G. Masciullo M, et al. Among authors: ricci e. Neuromuscul Disord. 2013 May;23(5):427-31. doi: 10.1016/j.nmd.2013.02.002. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23466272

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

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

4

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.

Silvestri G, Servidei S, Rana M, Ricci E, Spinazzola A, Paris E, Tonali P. Silvestri G, et al. Among authors: ricci e. Biochem Biophys Res Commun. 1996 Mar 27;220(3):623-7. doi: 10.1006/bbrc.1996.0453. Biochem Biophys Res Commun. 1996. PMID: 8607814

5

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

6

Functional involvement of central nervous system in mitochondrial disorders.

Di Lazzaro V, Restuccia D, Servidei S, Valeriani M, Nardone R, Manfredi G, Silvestri G, Ricci E, Tonali P. Di Lazzaro V, et al. Among authors: ricci e. Electroencephalogr Clin Neurophysiol. 1997 Jun;105(3):171-80. doi: 10.1016/s0924-980x(97)96671-6. Electroencephalogr Clin Neurophysiol. 1997. PMID: 9216485

7

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

8

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.

Galluzzi G, Deidda G, Cacurri S, Colantoni L, Piazzo N, Vigneti E, Ricci E, Servidei S, Merico B, Pachì A, Brambati B, Mangiola F, Tonali P, Felicetti L. Galluzzi G, et al. Among authors: ricci e. Neuromuscul Disord. 1999 May;9(3):190-8. doi: 10.1016/s0960-8966(98)00116-3. Neuromuscul Disord. 1999. PMID: 10382915

9

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

10

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.

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