Taroni F - Search Results

1

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

Gellera C, Meoni C, Castellotti B, Zappacosta B, Girotti F, Taroni F, DiDonato S. Gellera C, et al. Among authors: taroni f. Am J Hum Genet. 1996 Aug;59(2):475-7. Am J Hum Genet. 1996. PMID: 8755937 Free PMC article. No abstract available.

2

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F. Verderio E, et al. Among authors: taroni f. Hum Mol Genet. 1995 Jan;4(1):19-29. doi: 10.1093/hmg/4.1.19. Hum Mol Genet. 1995. PMID: 7711730

3

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene.

Verderio E, Cavadini P, Pandolfo M, DiDonato S, Taroni F. Verderio E, et al. Among authors: taroni f. Hum Mol Genet. 1993 Mar;2(3):334. doi: 10.1093/hmg/2.3.334. Hum Mol Genet. 1993. PMID: 8499929 No abstract available.

4

Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.

Magri S, Nanetti L, Mongelli A, Rizzo E, Taroni F, Mariotti C, Gellera C. Magri S, et al. Among authors: taroni f. Am J Med Genet A. 2021 Feb;185(2):397-400. doi: 10.1002/ajmg.a.61973. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247537

5

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.

Tan G, Chen LS, Lonnerdal B, Gellera C, Taroni FA, Cortopassi GA. Tan G, et al. Among authors: taroni fa. Hum Mol Genet. 2001 Sep 15;10(19):2099-107. doi: 10.1093/hmg/10.19.2099. Hum Mol Genet. 2001. PMID: 11590127

6

Kennedy's disease: clinical and molecular study of two Italian families.

Pareyson D, Castellotti B, Botti S, Defanti CA, Gellera C, Taroni F, Sghirlanzoni A. Pareyson D, et al. Among authors: taroni f. Ital J Neurol Sci. 1995 Oct;16(7):467-71. doi: 10.1007/BF02229324. Ital J Neurol Sci. 1995. PMID: 8749704

7

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.

Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, Cortopassi G. Wong A, et al. Among authors: taroni f. Hum Mol Genet. 1999 Mar;8(3):425-30. doi: 10.1093/hmg/8.3.425. Hum Mol Genet. 1999. PMID: 9949201

8

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S. Corrado L, et al. Among authors: taroni f. Hum Mutat. 2009 Apr;30(4):688-94. doi: 10.1002/humu.20950. Hum Mutat. 2009. PMID: 19224587

9

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S. Taroni F, et al. Proc Natl Acad Sci U S A. 1992 Sep 15;89(18):8429-33. doi: 10.1073/pnas.89.18.8429. Proc Natl Acad Sci U S A. 1992. PMID: 1528846 Free PMC article.

10

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F. Gellera C, et al. Among authors: taroni f. Neurogenetics. 2007 Nov;8(4):289-99. doi: 10.1007/s10048-007-0101-5. Epub 2007 Aug 17. Neurogenetics. 2007. PMID: 17703324

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