Castellotti B - Search Results

1

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Masnada S, Groenweg S, Saletti V, Chiapparini L, Castellotti B, Salsano E, Visser WE, Tonduti D. Masnada S, et al. Among authors: castellotti b. Metab Brain Dis. 2019 Dec;34(6):1565-1575. doi: 10.1007/s11011-019-00464-7. Epub 2019 Jul 22. Metab Brain Dis. 2019. PMID: 31332729

2

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.

3

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Castellotti B, Gellera C, Pantaleoni C. D'Arrigo S, et al. Among authors: castellotti b. J Child Neurol. 2008 Aug;23(8):895-900. doi: 10.1177/0883073808314959. Epub 2008 Apr 10. J Child Neurol. 2008. PMID: 18403580

4

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G. Salsano E, et al. Among authors: castellotti b. Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10. Orphanet J Rare Dis. 2012. PMID: 22280810 Free PMC article.

5

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C. Pensato V, et al. Among authors: castellotti b. Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15. Brain. 2014. PMID: 24833714

6

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.

Anghileri E, Bertolino N, Salsano E, Antelmi L, Carpinelli P, Castellotti B, Zucca I, Gellera C, Bisogno R, Caccia C, Cuccarini V. Anghileri E, et al. Among authors: castellotti b. Brain Res. 2016 Oct 1;1648(Pt A):506-511. doi: 10.1016/j.brainres.2016.08.013. Epub 2016 Aug 16. Brain Res. 2016. PMID: 27543339

7

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ. Novara F, et al. Among authors: castellotti b. Hum Mutat. 2017 Mar;38(3):260-264. doi: 10.1002/humu.23140. Epub 2017 Jan 5. Hum Mutat. 2017. PMID: 27805744

8

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Canafoglia L, Castellotti B, Ragona F, Freri E, Granata T, Chiapparini L, Gellera C, Scaioli V, Franceschetti S, DiFrancesco JC. Canafoglia L, et al. Among authors: castellotti b. Seizure. 2019 Feb;65:106-108. doi: 10.1016/j.seizure.2019.01.005. Epub 2019 Jan 8. Seizure. 2019. PMID: 30660924 Free article. No abstract available.

9

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

Russo C, Ardissone A, Freri E, Gasperini S, Moscatelli M, Zorzi G, Panteghini C, Castellotti B, Garavaglia B, Nardocci N, Chiapparini L. Russo C, et al. Among authors: castellotti b. Mov Disord Clin Pract. 2018 Nov 9;6(1):51-56. doi: 10.1002/mdc3.12693. eCollection 2019 Jan. Mov Disord Clin Pract. 2018. PMID: 30746416 Free PMC article.

10

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.

Fenu S, Castellotti B, Farina L, Cavallaro T, Di Bella D, Benzoni C, Gellera C, Pareyson D, Taroni F, Salsano E. Fenu S, et al. Among authors: castellotti b. Neurology. 2019 Aug 13;93(7):310-312. doi: 10.1212/WNL.0000000000007951. Epub 2019 Jul 9. Neurology. 2019. PMID: 31289144 No abstract available.

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