Pegoraro E - Search Results

1

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.

Wu FF, Takahashi MP, Pegoraro E, Angelini C, Colleselli P, Cannon SC, Hoffman EP. Wu FF, et al. Among authors: pegoraro e. Neurology. 2001 Apr 10;56(7):878-84. doi: 10.1212/wnl.56.7.878. Neurology. 2001. PMID: 11294924

2

An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy.

Fidzianska A, Morrone A, Pegoraro E, Ryniewicz B, Ilnicka A, Zammarchi E, Hoffman EP. Fidzianska A, et al. Among authors: pegoraro e. Neuropediatrics. 1995 Jun;26(3):163-7. doi: 10.1055/s-2007-979747. Neuropediatrics. 1995. PMID: 7477755

3

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.

Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop RC, Angelini C, Hoffman EP. Wang J, et al. Among authors: pegoraro e. Hum Mol Genet. 1995 Apr;4(4):599-606. doi: 10.1093/hmg/4.4.599. Hum Mol Genet. 1995. PMID: 7543316

4

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.

Pegoraro E, Schimke RN, Garcia C, Stern H, Cadaldini M, Angelini C, Barbosa E, Carroll J, Marks WA, Neville HE, Marks H, Appleton S, Toriello H, Wessel HB, Donnelly J, Bernes SM, Taber JW, Weiss L, Hoffman EP. Pegoraro E, et al. Neurology. 1995 Apr;45(4):677-90. doi: 10.1212/wnl.45.4.677. Neurology. 1995. PMID: 7723955

5

Duchenne muscular dystrophy and myotonic dystrophy in the same patient.

Dubrovsky AL, Taratuto AL, Sevlever G, Schultz M, Pegoraro E, Hoop RC, Hoffman EP. Dubrovsky AL, et al. Among authors: pegoraro e. Am J Med Genet. 1995 Jan 30;55(3):342-8. doi: 10.1002/ajmg.1320550319. Am J Med Genet. 1995. PMID: 7726234

6

Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients.

Fanin M, Pegoraro E, Angelini C. Fanin M, et al. Among authors: pegoraro e. J Neurol Sci. 1994 May;123(1-2):88-94. doi: 10.1016/0022-510x(94)90208-9. J Neurol Sci. 1994. PMID: 8064327

7

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

Fanin M, Freda MP, Vitiello L, Danieli GA, Pegoraro E, Angelini C. Fanin M, et al. Among authors: pegoraro e. Muscle Nerve. 1996 Sep;19(9):1154-60. doi: 10.1002/mus.880190902. Muscle Nerve. 1996. PMID: 8761273

8

Motor neuron disease in the Padua district of Italy: an epidemiological study.

Briani C, Marcon M, Dam M, Beghi E, Pegoraro E, Angelini C. Briani C, et al. Among authors: pegoraro e. Neuroepidemiology. 1996;15(4):173-9. doi: 10.1159/000109905. Neuroepidemiology. 1996. PMID: 8817499

9

Genetic counseling of isolated carriers of Duchenne muscular dystrophy.

Hoffman EP, Pegoraro E, Scacheri P, Burns RG, Taber JW, Weiss L, Spiro A, Blattner P. Hoffman EP, et al. Among authors: pegoraro e. Am J Med Genet. 1996 Jun 28;63(4):573-80. doi: 10.1002/(SICI)1096-8628(19960628)63:4<573::AID-AJMG11>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8826437

10

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.

Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C, Hoffman EP. Pegoraro E, et al. Am J Med Genet. 1996 Feb 2;61(4):356-62. doi: 10.1002/(SICI)1096-8628(19960202)61:4<356::AID-AJMG10>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8834048

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