Federico A - Search Results

1

Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.

Gambelli S, Malandrini A, Berti G, Gaudiano C, Zicari E, Brunori P, Perticoni G, Orrico A, Galli L, Sorrentino V, Lunardi J, Federico A, Dotti MT. Gambelli S, et al. Among authors: federico a. Clin Genet. 2007 Jan;71(1):93-4. doi: 10.1111/j.1399-0004.2006.00725.x. Clin Genet. 2007. PMID: 17204054 No abstract available.

2

Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.

Malandrini A, Orrico A, Gaudiano C, Gambelli S, Galli L, Berti G, Tegazzin V, Dotti MT, Federico A, Sorrentino V. Malandrini A, et al. Among authors: federico a. Anesthesiology. 2008 Oct;109(4):625-8. doi: 10.1097/ALN.0b013e3181862a0d. Anesthesiology. 2008. PMID: 18813041 Free article.

3

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

Orrico A, Galli L, Dotti MT, Plewnia K, Censini S, Federico A. Orrico A, et al. Among authors: federico a. Am J Med Genet. 1998 Jul 24;78(4):341-4. Am J Med Genet. 1998. PMID: 9714436

4

Imaging of the thymus in myotonic dystrophy type 1.

Mignarri A, Gentili F, Masia F, Genua A, Cenciarelli S, Brunori P, Mazzei MA, Malandrini A, Federico A, Mazzei FG, Dotti MT. Mignarri A, et al. Among authors: federico a. Neurol Sci. 2018 Feb;39(2):347-351. doi: 10.1007/s10072-017-3202-4. Epub 2017 Nov 25. Neurol Sci. 2018. PMID: 29177794

5

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

Battisti C, Dotti MT, Malandrini A, Pezzella F, Bardelli AM, Federico A. Battisti C, et al. Among authors: federico a. Am J Med Genet. 1998 Jan 6;75(1):35-9. doi: 10.1002/(sici)1096-8628(19980106)75:1<35::aid-ajmg8>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9450854

6

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.

Bianchi S, Dotti MT, De Stefano N, Stromillo ML, Federico A. Bianchi S, et al. Among authors: federico a. Hum Genet. 2007 Dec;122(5):558-9. Hum Genet. 2007. PMID: 18386331 No abstract available.

7

Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities.

Giorgio A, Dotti MT, Battaglini M, Marino S, Mortilla M, Stromillo ML, Bramanti P, Orrico A, Federico A, De Stefano N. Giorgio A, et al. Among authors: federico a. J Neurol. 2006 Nov;253(11):1471-7. doi: 10.1007/s00415-006-0248-2. Epub 2006 Jun 19. J Neurol. 2006. PMID: 16786209

8

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL.

Bianchi S, Dotti MT, Perretti A, De Rosa A, Manganelli F, Federico A. Bianchi S, et al. Among authors: federico a. Hum Genet. 2007 Dec;122(5):558. Hum Genet. 2007. PMID: 18386330 No abstract available.

9

A new missense mutation in caveolin-3 gene causes rippling muscle disease.

Dotti MT, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A. Dotti MT, et al. Among authors: federico a. J Neurol Sci. 2006 Apr 15;243(1-2):61-4. doi: 10.1016/j.jns.2005.11.032. Epub 2006 Feb 3. J Neurol Sci. 2006. PMID: 16458928

10

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: federico a. Neuromuscul Disord. 2007 Oct;17(9-10):681-3. doi: 10.1016/j.nmd.2007.05.001. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614276

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