Castellotti B - Search Results

1

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

Gellera C, Meoni C, Castellotti B, Zappacosta B, Girotti F, Taroni F, DiDonato S. Gellera C, et al. Among authors: castellotti b. Am J Hum Genet. 1996 Aug;59(2):475-7. Am J Hum Genet. 1996. PMID: 8755937 Free PMC article. No abstract available.

2

Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases.

Caputo D, Franceschetti S, Castellotti B, Freri E, Zorzi G, Saletti V, Canafoglia L, Granata T. Caputo D, et al. Among authors: castellotti b. Front Neurosci. 2023 Jun 29;17:1219244. doi: 10.3389/fnins.2023.1219244. eCollection 2023. Front Neurosci. 2023. PMID: 37457006 Free PMC article.

3

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group. Remerand G, et al. Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13. Dev Med Child Neurol. 2019. PMID: 31410843 Free article.

4

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Among authors: castellotti b. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.

5

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Solazzi R, Nanni G, Esposito S, Estienne M, Freri E, Zibordi F, Canafoglia L, Castellotti B, Granata T. Solazzi R, et al. Among authors: castellotti b. Pediatr Neurol. 2023 Oct;147:24-27. doi: 10.1016/j.pediatrneurol.2023.06.012. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37542971

6

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.

Hafdaoui S, Ciaccio C, Castellotti B, Sciacca FL, Pantaleoni C, D'Arrigo S. Hafdaoui S, et al. Among authors: castellotti b. Front Neurol. 2023 Jul 20;14:1199095. doi: 10.3389/fneur.2023.1199095. eCollection 2023. Front Neurol. 2023. PMID: 37545716 Free PMC article.

7

Mapping of genes predisposing to idiopathic generalized epilepsy.

Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M. Zara F, et al. Among authors: castellotti b. Hum Mol Genet. 1995 Jul;4(7):1201-7. doi: 10.1093/hmg/4.7.1201. Hum Mol Genet. 1995. PMID: 8528209

8

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

9

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.

Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJ, Di Donato S, Pandolfo M. Montermini L, et al. Among authors: castellotti b. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531

10

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

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