Leon A - Search Results

1

Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders.

Pellino G, Faggioli R, Galuppi A, Leon A, Fusco C, Tugnoli V, Suppiej A. Pellino G, et al. Among authors: leon a. Mitochondrion. 2021 Nov;61:159-164. doi: 10.1016/j.mito.2021.09.011. Epub 2021 Sep 30. Mitochondrion. 2021. PMID: 34600155

2

Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study.

Suppiej A, Ceccato C, Maritan V, Cermakova I, Colavito D, Leon A. Suppiej A, et al. Among authors: leon a. Eur J Paediatr Neurol. 2021 Mar;31:1-9. doi: 10.1016/j.ejpn.2021.01.003. Epub 2021 Jan 22. Eur J Paediatr Neurol. 2021. PMID: 33529788

3

Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.

Colavito D, Del Giudice E, Ceccato C, Dalle Carbonare M, Leon A, Suppiej A. Colavito D, et al. Among authors: leon a. J Hum Genet. 2018 Jun;63(6):779-781. doi: 10.1038/s10038-018-0434-y. Epub 2018 Mar 22. J Hum Genet. 2018. PMID: 29568000 No abstract available.

4

Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.

Colavito D, Maritan V, Suppiej A, Del Giudice E, Mazzarolo M, Miotto S, Farina S, Dalle Carbonare M, Piermarocchi S, Leon A. Colavito D, et al. Among authors: leon a. Biomed Rep. 2017 Nov;7(5):451-454. doi: 10.3892/br.2017.987. Epub 2017 Sep 22. Biomed Rep. 2017. PMID: 29181157 Free PMC article.

5

Endothelin receptor A -231 G>A polymorphism: no linkage to primary pediatric headache.

Lisi V, Garbo G, Battistella P, Miccichè F, Stecca A, Terrazzino S, Franzoi M, Tripoli E, Leon A, Clementi M. Lisi V, et al. Among authors: leon a. Headache. 2006 Mar;46(3):486-91. doi: 10.1111/j.1526-4610.2006.00380.x. Headache. 2006. PMID: 16618267

6

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.

Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, Li Q, Marzollo A, Mescoli C, Nambu R, Pan J, Perilongo G, Warner N, Zhang S, Kotlarz D, Klein C, Snapper SB, Walters TD, Leon A, Griffiths AM, Cananzi M, Muise AM. Bosa L, et al. Among authors: leon a. Sci Rep. 2021 Mar 15;11(1):5945. doi: 10.1038/s41598-021-85399-9. Sci Rep. 2021. PMID: 33723309 Free PMC article.

7

Genetic risk factors in primary paediatric versus adult headache: complexities and problematics.

Lisi V, Garbo G, Miccichè F, Stecca A, Terrazzino S, Franzoi M, Tripoli E, Clementi M, Leon A, Battistella PA. Lisi V, et al. Among authors: leon a. J Headache Pain. 2005 Sep;6(4):179-81. doi: 10.1007/s10194-005-0178-x. J Headache Pain. 2005. PMID: 16362657 Free PMC article. Review.

8

Biochemistry of primary headaches: role of tyrosine and tryptophan metabolism.

D'Andrea G, Cevoli S, Colavito D, Leon A. D'Andrea G, et al. Among authors: leon a. Neurol Sci. 2015 May;36 Suppl 1:17-22. doi: 10.1007/s10072-015-2131-3. Neurol Sci. 2015. PMID: 26017505 Review.

9

The role of tyrosine metabolism in the pathogenesis of chronic migraine.

D'Andrea G, D'Amico D, Bussone G, Bolner A, Aguggia M, Saracco MG, Galloni E, De Riva V, Colavito D, Leon A, Rosteghin V, Perini F. D'Andrea G, et al. Among authors: leon a. Cephalalgia. 2013 Aug;33(11):932-7. doi: 10.1177/0333102413480755. Epub 2013 Mar 14. Cephalalgia. 2013. PMID: 23493762

10

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.

Piermarocchi S, Segato T, Leon A, Colavito D, Miotto S. Piermarocchi S, et al. Among authors: leon a. Mol Med Rep. 2016 Mar;13(3):2308-12. doi: 10.3892/mmr.2016.4784. Epub 2016 Jan 14. Mol Med Rep. 2016. PMID: 26782618

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