Federico A - Search Results

1

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V. Quadri M, et al. Among authors: federico a. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341971 Free PMC article.

2

Primary familial brain calcification: Genetic analysis and clinical spectrum.

Taglia I, Mignarri A, Olgiati S, Menci E, Petrocelli PL, Breedveld GJ, Scaglione C, Martinelli P, Federico A, Bonifati V, Dotti MT. Taglia I, et al. Among authors: federico a. Mov Disord. 2014 Nov;29(13):1691-5. doi: 10.1002/mds.26053. Epub 2014 Oct 4. Mov Disord. 2014. PMID: 25284758

3

Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations.

Di Toro Mammarella L, Mignarri A, Battisti C, Monti L, Bonifati V, Rasi F, Federico A. Di Toro Mammarella L, et al. Among authors: federico a. J Neurol. 2014 Jan;261(1):227-8. doi: 10.1007/s00415-013-7187-5. Epub 2013 Nov 26. J Neurol. 2014. PMID: 24276520 No abstract available.

4

Primary familial brain calcification caused by MYORG mutations in an Italian family.

Taglia I, Kuipers DJS, Breedveld GJ, Mignarri A, Dotti MT, Federico A, Bonifati V. Taglia I, et al. Among authors: federico a. Parkinsonism Relat Disord. 2019 Oct;67:24-26. doi: 10.1016/j.parkreldis.2019.09.021. Epub 2019 Sep 17. Parkinsonism Relat Disord. 2019. PMID: 31621601 No abstract available.

5

From the liver to the brain: manganese matters: focus on cirrhosis-related Parkinsonism.

Mignarri A, Federico A. Mignarri A, et al. Among authors: federico a. Neurol Sci. 2014 Apr;35(4):521-2. doi: 10.1007/s10072-014-1665-0. Neurol Sci. 2014. PMID: 24518989 No abstract available.

6

Primary familial brain calcification: update on molecular genetics.

Taglia I, Bonifati V, Mignarri A, Dotti MT, Federico A. Taglia I, et al. Among authors: federico a. Neurol Sci. 2015 May;36(5):787-94. doi: 10.1007/s10072-015-2110-8. Epub 2015 Feb 17. Neurol Sci. 2015. PMID: 25686613

7

Progressive neurodegenerative syndrome associated with Langerhans cell histiocytosis: a rare condition that we have to consider in patients with sporadic spastic ataxia and diabetes insipidus.

Federico A, Di Toro Mammarella L. Federico A, et al. Neurol Sci. 2012 Jun;33(3):489-90. doi: 10.1007/s10072-012-1107-9. Neurol Sci. 2012. PMID: 22569568 Free article. No abstract available.

8

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

Di Leo E, Panico F, Tarugi P, Battisti C, Federico A, Calandra S. Di Leo E, et al. Among authors: federico a. Hum Mutat. 2004 Nov;24(5):440. doi: 10.1002/humu.9287. Hum Mutat. 2004. PMID: 15459971

9

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

Stabile C, Taglia I, Battisti C, Bianchi S, Federico A. Stabile C, et al. Among authors: federico a. Neurol Sci. 2016 Sep;37(9):1565-9. doi: 10.1007/s10072-016-2634-6. Epub 2016 Jun 23. Neurol Sci. 2016. PMID: 27338940 Review.

10

Occurrence of ankylosing spondylitis and multiple sclerosis-like syndrome in a HLA-B27 positive patient.

Mignarri A, Dotti MT, Battisti C, Vallone I, Federico A. Mignarri A, et al. Among authors: federico a. Neurol Sci. 2009 Aug;30(4):329-32. doi: 10.1007/s10072-009-0092-0. Epub 2009 May 15. Neurol Sci. 2009. PMID: 19444380

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