Mignarri A - Search Results

1

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: mignarri a. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.

2

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. Neurol Sci. 2009 Aug;30(4):329-32. doi: 10.1007/s10072-009-0092-0. Epub 2009 May 15. Neurol Sci. 2009. PMID: 19444380

3

Four novel CYP27A1 mutations in seven Italian patients with CTX.

Gallus GN, Dotti MT, Mignarri A, Rufa A, Da Pozzo P, Cardaioli E, Federico A. Gallus GN, et al. Among authors: mignarri a. Eur J Neurol. 2010 Oct;17(10):1259-62. doi: 10.1111/j.1468-1331.2010.03002.x. Eur J Neurol. 2010. PMID: 20402754

4

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.

Mignarri A, Rossi S, Ballerini M, Gallus GN, Del Puppo M, Galluzzi P, Federico A, Dotti MT. Mignarri A, et al. J Neurol. 2011 May;258(5):783-90. doi: 10.1007/s00415-010-5829-4. Epub 2010 Nov 21. J Neurol. 2011. PMID: 21104094

5

The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.

Mignarri A, Carluccio MA, Malandrini A, Sicurelli F, Galli L, Mazzei MA, Federico A, Orrico A, Dotti MT. Mignarri A, et al. Neuromuscul Disord. 2012 Aug;22(8):759-62. doi: 10.1016/j.nmd.2012.03.010. Epub 2012 May 29. Neuromuscul Disord. 2012. PMID: 22652077

6

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.

Caroppo P, D'Agata F, Mignarri A, Stromillo ML, Dotti MT, Mongini T. Caroppo P, et al. Among authors: mignarri a. Neurol Sci. 2013 Sep;34(9):1693-6. doi: 10.1007/s10072-012-1262-z. Epub 2012 Dec 5. Neurol Sci. 2013. PMID: 23212406 No abstract available.

7

Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment.

Martini G, Mignarri A, Ruvio M, Valenti R, Franci B, Del Puppo M, Federico A, Nuti R, Dotti MT. Martini G, et al. Among authors: mignarri a. Calcif Tissue Int. 2013 Mar;92(3):282-6. doi: 10.1007/s00223-012-9677-3. Epub 2012 Dec 2. Calcif Tissue Int. 2013. PMID: 23212544

8

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A. Mignarri A, et al. JIMD Rep. 2012;6:43-6. doi: 10.1007/8904_2011_102. Epub 2012 Jan 29. JIMD Rep. 2012. PMID: 23430938 Free PMC article.

9

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: mignarri 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.

10

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Mignarri A, Tessa A, Carluccio MA, Rufa A, Storti E, Bonelli G, Marcotulli C, Santorelli FM, Leonardi L, Casali C, Federico A, Dotti MT. Mignarri A, et al. Neurol Sci. 2014 Jan;35(1):95-7. doi: 10.1007/s10072-013-1592-5. Epub 2013 Dec 7. Neurol Sci. 2014. PMID: 24318559

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