Ricci E - Search Results

1

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

Luigetti M, Modoni A, Renna R, Silvestri G, Ricci E, Montano N, Tasca G, Papacci M, Monforte M, Conte A, Pomponi MG, Sabatelli M. Luigetti M, et al. Among authors: ricci e. Clin Neurol Neurosurg. 2010 Nov;112(9):794-7. doi: 10.1016/j.clineuro.2010.05.001. Epub 2010 May 26. Clin Neurol Neurosurg. 2010. PMID: 20537790

2

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle.

Sabatelli M, Bertini E, Ricci E, Salviati G, Magi S, Papacci M, Tonali P. Sabatelli M, et al. Among authors: ricci e. J Neurol Sci. 1992 May;109(1):1-10. doi: 10.1016/0022-510x(92)90086-z. J Neurol Sci. 1992. PMID: 1517757 Review.

3

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

Bertini E, Bosman C, Ricci E, Servidei S, Boldrini R, Sabatelli M, Salviati G. Bertini E, et al. Among authors: ricci e. Acta Neuropathol. 1991;81(6):632-40. doi: 10.1007/BF00296373. Acta Neuropathol. 1991. PMID: 1882639

4

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S. Ciafaloni E, et al. Among authors: ricci e. Neurology. 1991 Oct;41(10):1663-4. doi: 10.1212/wnl.41.10.1663. Neurology. 1991. PMID: 1922812 No abstract available.

5

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

6

[Duchenne, Becker and limb-girdle muscular dystrophies. Problems of differential diagnosis].

Tonali P, Sabatelli M, Ricci E. Tonali P, et al. Among authors: ricci e. Riv Neurol. 1988 Jan-Feb;58(1):5-10. Riv Neurol. 1988. PMID: 3047848 Review. Italian. No abstract available.

7

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

8

Autosomal recessive hypermyelinating neuropathy.

Sabatelli M, Mignogna T, Lippi G, Servidei S, Manfredi G, Ricci E, Bertini E, Lo Monaco M, Tonali P. Sabatelli M, et al. Among authors: ricci e. Acta Neuropathol. 1994;87(4):337-42. doi: 10.1007/BF00313601. Acta Neuropathol. 1994. PMID: 8017168

9

Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings.

Bertini E, Salviati G, Apollo F, Ricci E, Servidei S, Broccolini A, Papacci M, Tonali P. Bertini E, et al. Among authors: ricci e. Acta Neuropathol. 1994;87(1):106-12. doi: 10.1007/BF00386261. Acta Neuropathol. 1994. PMID: 8140891

10

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.

Uncini A, Servidei S, Silvestri G, Manfredi G, Sabatelli M, Di Muzio A, Ricci E, Mirabella M, Di Mauro S, Tonali P. Uncini A, et al. Among authors: ricci e. Muscle Nerve. 1994 Jun;17(6):667-74. doi: 10.1002/mus.880170616. Muscle Nerve. 1994. PMID: 8196710

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