Travaglini L - Search Results

1

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons.

D'Oria V, Petrini S, Travaglini L, Priori C, Piermarini E, Petrillo S, Carletti B, Bertini E, Piemonte F. D'Oria V, et al. Among authors: travaglini l. Int J Mol Sci. 2013 Apr 10;14(4):7853-65. doi: 10.3390/ijms14047853. Int J Mol Sci. 2013. PMID: 23574943 Free PMC article.

2

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: travaglini l. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435

3

PRRT2 is mutated in familial and non-familial benign infantile seizures.

Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F. Specchio N, et al. Among authors: travaglini l. Eur J Paediatr Neurol. 2013 Jan;17(1):77-81. doi: 10.1016/j.ejpn.2012.07.006. Epub 2012 Aug 17. Eur J Paediatr Neurol. 2013. PMID: 22902423

4

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C. Martinelli D, et al. Among authors: travaglini l. Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Brain. 2013. PMID: 23423674

5

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis.

Carletti B, Piermarini E, Tozzi G, Travaglini L, Torraco A, Pastore A, Sparaco M, Petrillo S, Carrozzo R, Bertini E, Piemonte F. Carletti B, et al. Among authors: travaglini l. Int J Mol Sci. 2014 Apr 4;15(4):5789-806. doi: 10.3390/ijms15045789. Int J Mol Sci. 2014. PMID: 24714088 Free PMC article.

6

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G. Battini R, et al. Among authors: travaglini l. BMC Med Genet. 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0. BMC Med Genet. 2015. PMID: 26204956 Free PMC article.

7

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. Nicita F, et al. Among authors: travaglini l. Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1. Parkinsonism Relat Disord. 2016. PMID: 27268479 No abstract available.

8

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.

Nicita F, Bertini E, Travaglini L, Armando M, Aiello C. Nicita F, et al. Among authors: travaglini l. J Neurol Sci. 2016 Sep 15;368:145-6. doi: 10.1016/j.jns.2016.07.002. Epub 2016 Jul 2. J Neurol Sci. 2016. PMID: 27538619 No abstract available.

9

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Travaglini L, Aiello C, Alesi V, Loddo S, Novelli A, Tozzi G, Bertini E, Leuzzi V, Brancati F. Travaglini L, et al. Brain Dev. 2017 Feb;39(2):182-183. doi: 10.1016/j.braindev.2016.08.010. Epub 2016 Sep 14. Brain Dev. 2017. PMID: 27639779 No abstract available.

10

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Travaglini L, Nardella M, Bellacchio E, D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández-Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G. Travaglini L, et al. Eur J Paediatr Neurol. 2017 May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30. Eur J Paediatr Neurol. 2017. PMID: 28007337

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