Castellotti B - Search Results

1

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

Pensato V, Tiloca C, Corrado L, Bertolin C, Sardone V, Del Bo R, Calini D, Mandrioli J, Lauria G, Mazzini L, Querin G, Ceroni M, Cantello R, Corti S, Castellotti B, Soldà G, Duga S, Comi GP, Cereda C, Sorarù G, D'Alfonso S, Taroni F, Shaw CE, Landers JE, Ticozzi N, Ratti A, Gellera C, Silani V; SLAGEN Consortium. Pensato V, et al. Among authors: castellotti b. J Neurol. 2015 May;262(5):1376-8. doi: 10.1007/s00415-015-7739-y. Epub 2015 Apr 18. J Neurol. 2015. PMID: 25893256 Free PMC article. No abstract available.

2

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: castellotti b. Ital J Neurol Sci. 1995 Oct;16(7):467-71. doi: 10.1007/BF02229324. Ital J Neurol Sci. 1995. PMID: 8749704

3

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.

Gellera C, Pareyson D, Castellotti B, Mazzucchelli F, Zappacosta B, Pandolfo M, Di Donato S. Gellera C, et al. Among authors: castellotti b. Neurology. 1997 Oct;49(4):1153-5. doi: 10.1212/wnl.49.4.1153. Neurology. 1997. PMID: 9339708

4

Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy.

Villani F, Gellera C, Spreafico R, Castellotti B, Casazza M, Carrara F, Avanzini G. Villani F, et al. Among authors: castellotti b. Acta Neurol Scand. 1998 Nov;98(5):324-7. doi: 10.1111/j.1600-0404.1998.tb01742.x. Acta Neurol Scand. 1998. PMID: 9858102

5

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.

Pareyson D, Gellera C, Castellotti B, Antonelli A, Riggio MC, Mazzucchelli F, Girotti F, Pietrini V, Mariotti C, Di Donato S. Pareyson D, et al. Among authors: castellotti b. J Neurol. 1999 May;246(5):389-93. doi: 10.1007/s004150050369. J Neurol. 1999. PMID: 10399872

6

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.

Mariotti C, Castellotti B, Pareyson D, Testa D, Eoli M, Antozzi C, Silani V, Marconi R, Tezzon F, Siciliano G, Marchini C, Gellera C, Donato SD. Mariotti C, et al. Among authors: castellotti b. Neuromuscul Disord. 2000 Aug;10(6):391-7. doi: 10.1016/s0960-8966(99)00132-7. Neuromuscul Disord. 2000. PMID: 10899444

7

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: castellotti b. Neuromuscul Disord. 2001 May;11(4):404-10. doi: 10.1016/s0960-8966(00)00215-7. Neuromuscul Disord. 2001. PMID: 11369193

8

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

Brussino A, Gellera C, Saluto A, Mariotti C, Arduino C, Castellotti B, Camerlingo M, de Angelis V, Orsi L, Tosca P, Migone N, Taroni F, Brusco A. Brussino A, et al. Among authors: castellotti b. Neurology. 2005 Jan 11;64(1):145-7. doi: 10.1212/01.WNL.0000148723.37489.3F. Neurology. 2005. PMID: 15642922

9

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: castellotti b. Neurogenetics. 2007 Nov;8(4):289-99. doi: 10.1007/s10048-007-0101-5. Epub 2007 Aug 17. Neurogenetics. 2007. PMID: 17703324

10

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: castellotti b. Neurogenetics. 2008 Feb;9(1):33-40. doi: 10.1007/s10048-007-0111-3. Epub 2007 Dec 18. Neurogenetics. 2008. PMID: 18087731

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