Taroni F - Search Results

1

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium; van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE. Smith BN, et al. Among authors: taroni f. Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22. Neuron. 2014. PMID: 25374358 Free PMC article.

2

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.

3

Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzyme.

Taroni F, Gellera C, Di Donato S. Taroni F, et al. Biochim Biophys Acta. 1987 Dec 18;916(3):446-54. doi: 10.1016/0167-4838(87)90191-9. Biochim Biophys Acta. 1987. PMID: 3689803

4

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

5

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

6

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.

Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C. Gellera C, et al. Among authors: taroni f. Neuromuscul Disord. 2001 May;11(4):404-10. doi: 10.1016/s0960-8966(00)00215-7. Neuromuscul Disord. 2001. PMID: 11369193

7

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

Pareyson D, Testa D, Morbin M, Erbetta A, Ciano C, Lauria G, Milani M, Taroni F. Pareyson D, et al. Among authors: taroni f. Neurology. 2003 May 27;60(10):1721-2. doi: 10.1212/01.wnl.0000059262.34846.8a. Neurology. 2003. PMID: 12771282 Free article. No abstract available.

8

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A. Cagnoli C, et al. Among authors: taroni f. Brain. 2006 Jan;129(Pt 1):235-42. doi: 10.1093/brain/awh651. Epub 2005 Oct 26. Brain. 2006. PMID: 16251216

9

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.

Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S, Taroni F, Vita G, Toscano A. Musumeci O, et al. Among authors: taroni f. Neuromuscul Disord. 2007 Dec;17(11-12):960-3. doi: 10.1016/j.nmd.2007.05.002. Epub 2007 Jul 24. Neuromuscul Disord. 2007. PMID: 17651973

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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