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

Year	Number of Results
1995	1
1996	3
1997	3
1998	1
2024	0

1

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916

2

Frataxin fracas.

Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M. Cossée M, et al. Nat Genet. 1997 Apr;15(4):337-8. doi: 10.1038/ng0497-337. Nat Genet. 1997. PMID: 9090376 No abstract available.

3

Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases.

De Michele G, Di Maio L, Filla A, Majello M, Cocozza S, Cavalcanti F, Mirante E, Campanella G. De Michele G, et al. Neuropediatrics. 1996 Feb;27(1):3-7. doi: 10.1055/s-2007-973740. Neuropediatrics. 1996. PMID: 8677022

4

Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family.

Rizzi R, Carelli V, Monari L, Mochi M, Liguori R, Sensi M, Cocozza S, Filla A, Montagna P. Rizzi R, et al. Ital J Neurol Sci. 1998 Feb;19(1):41-4. doi: 10.1007/BF03028811. Ital J Neurol Sci. 1998. PMID: 10935859

5

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.

Montermini L, Rodius F, Pianese L, Moltò MD, Cossée M, Campuzano V, Cavalcanti F, Monticelli A, Palau F, Gyapay G, et al. Montermini L, et al. Am J Hum Genet. 1995 Nov;57(5):1061-7. Am J Hum Genet. 1995. PMID: 7485155 Free PMC article.

6

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S. Montermini L, et al. Hum Mol Genet. 1997 Aug;6(8):1261-6. doi: 10.1093/hmg/6.8.1261. Hum Mol Genet. 1997. PMID: 9259271

7

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. Filla A, et al. Am J Hum Genet. 1996 Sep;59(3):554-60. Am J Hum Genet. 1996. PMID: 8751856 Free PMC article.

8

The effect of parental gender on the GAA dynamic mutation in the FRDA gene.

Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, Castaldo I, Monticelli A, Cocozza S. Pianese L, et al. Am J Hum Genet. 1997 Feb;60(2):460-3. Am J Hum Genet. 1997. PMID: 9012421 Free PMC article. No abstract available.

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