Bertini 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: bertini 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: bertini 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. 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. Among authors: bertini e. 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: bertini 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: bertini 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: bertini 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

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: bertini e. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

9

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: bertini e. Neurology. 1998 Aug;51(2):592-5. doi: 10.1212/wnl.51.2.592. Neurology. 1998. PMID: 9710043

10

[Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach].

Santorelli FM, Bertini E. Santorelli FM, et al. Among authors: bertini e. G Ital Cardiol. 1999 Oct;29(10):1181-3. G Ital Cardiol. 1999. PMID: 10546130 Italian. No abstract available.

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