Taroni F - Search Results

1

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium; Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE. Kenna KP, et al. Among authors: taroni f. Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455347 Free PMC article.

2

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

3

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

4

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

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

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

7

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

8

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.

Gellera C, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V. Gellera C, et al. Among authors: taroni f. Neurogenetics. 2008 Feb;9(1):33-40. doi: 10.1007/s10048-007-0111-3. Epub 2007 Dec 18. Neurogenetics. 2008. PMID: 18087731

9

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F. Mariotti C, et al. Among authors: taroni f. Cerebellum. 2008;7(2):184-8. doi: 10.1007/s12311-008-0053-9. Cerebellum. 2008. PMID: 18769991

10

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

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