Bertini E - Search Results

1

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.

Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptácek L. Bruno MK, et al. Among authors: bertini e. Neurology. 2007 May 22;68(21):1782-9. doi: 10.1212/01.wnl.0000262029.91552.e0. Neurology. 2007. PMID: 17515540

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

Hereditary metabolic cardiomyopathies.

Servidei S, Bertini E, DiMauro S. Servidei S, et al. Among authors: bertini e. Adv Pediatr. 1994;41:1-32. Adv Pediatr. 1994. PMID: 7992680 Review. No abstract available.

4

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

5

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

6

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.

Fouad GT, Servidei S, Durcan S, Bertini E, Ptácek LJ. Fouad GT, et al. Among authors: bertini e. Am J Hum Genet. 1996 Jul;59(1):135-9. Am J Hum Genet. 1996. PMID: 8659517 Free PMC article.

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

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

9

Cerebellar ataxia and coenzyme Q10 deficiency.

Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Lamperti C, et al. Among authors: bertini e. Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339

10

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Among authors: bertini e. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431

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