GGP07110/TI_/Telethon/Italy[Grants and Funding] - Search Results

Year	Number of Results
2008	2
2009	2
2010	6
2011	1
2012	1
2013	1
2024	0

1

Motor dysfunction and cerebellar Purkinje cell firing impairment in Ebf2 null mice.

Hoxha E, Tonini R, Montarolo F, Croci L, Consalez GG, Tempia F. Hoxha E, et al. Mol Cell Neurosci. 2013 Jan;52:51-61. doi: 10.1016/j.mcn.2012.09.002. Epub 2012 Sep 18. Mol Cell Neurosci. 2013. PMID: 23000673 Free article.

2

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A. Di Gregorio E, et al. Cerebellum. 2010 Mar;9(1):115-23. doi: 10.1007/s12311-009-0154-0. Cerebellum. 2010. PMID: 20082166

3

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.

Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C, Gabellini A, Rinaldi R, Miccoli S, Grosso E, Bellati MC, Orsi L, Migone N, Brusco A. Brussino A, et al. Mov Disord. 2010 Jul 15;25(9):1269-73. doi: 10.1002/mds.22835. Mov Disord. 2010. PMID: 20629122

4

Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.

Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F. Sacco T, et al. BMC Neurosci. 2010 Apr 28;11:55. doi: 10.1186/1471-2202-11-55. BMC Neurosci. 2010. PMID: 20426821 Free PMC article.

5

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. Brussino A, et al. J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330. J Neurol Neurosurg Psychiatry. 2009. PMID: 19151023 Free article.

6

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. Di Bella D, et al. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7. Nat Genet. 2010. PMID: 20208537

7

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.

Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac GB, Pinessi L, Cavalieri S, Grosso E, Migone N, Brusco A. Brussino A, et al. Eur J Neurol. 2010 Apr;17(4):541-9. doi: 10.1111/j.1468-1331.2009.02844.x. Epub 2009 Dec 4. Eur J Neurol. 2010. PMID: 19961535

8

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A. Cagnoli C, et al. Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342. Hum Mutat. 2010. PMID: 20725928

9

Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes.

Mancini C, Messana E, Turco E, Brussino A, Brusco A. Mancini C, et al. Biol Proced Online. 2011 Oct 28;13:10. doi: 10.1186/1480-9222-13-10. Biol Proced Online. 2011. PMID: 22035318 Free PMC article.

10

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. Cerebellum. 2008;7(2):184-8. doi: 10.1007/s12311-008-0053-9. Cerebellum. 2008. PMID: 18769991

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