Federico A - Search Results

1

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

Dotti MT, De Stefano N, Bianchi S, Malandrini A, Battisti C, Cardaioli E, Federico A. Dotti MT, et al. Among authors: federico a. Arch Neurol. 2004 Jun;61(6):942-5. doi: 10.1001/archneur.61.6.942. Arch Neurol. 2004. PMID: 15210536

2

MR evidence of structural and metabolic changes in brains of patients with Werner's syndrome.

De Stefano N, Dotti MT, Battisti C, Sicurelli F, Stromillo ML, Mortilla M, Federico A. De Stefano N, et al. Among authors: federico a. J Neurol. 2003 Oct;250(10):1169-73. doi: 10.1007/s00415-003-0167-4. J Neurol. 2003. PMID: 14586596

3

Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Rufa A, De Stefano N, Dotti MT, Bianchi S, Sicurelli F, Stromillo ML, D'Aniello B, Federico A. Rufa A, et al. Among authors: federico a. Arch Neurol. 2004 Apr;61(4):577-80. doi: 10.1001/archneur.61.4.577. Arch Neurol. 2004. PMID: 15096408

4

Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Rufa A, Dotti MT, Frezzotti P, De Stefano N, Caporossi A, Federico A. Rufa A, et al. Among authors: federico a. Arch Neurol. 2004 Aug;61(8):1230-3. doi: 10.1001/archneur.61.8.1230. Arch Neurol. 2004. PMID: 15313839

5

Peripheral neuropathy in CADASIL.

Sicurelli F, Dotti MT, De Stefano N, Malandrini A, Mondelli M, Bianchi S, Federico A. Sicurelli F, et al. Among authors: federico a. J Neurol. 2005 Oct;252(10):1206-9. doi: 10.1007/s00415-005-0837-5. Epub 2005 Apr 15. J Neurol. 2005. PMID: 15827866

6

Physiology and pathology of notch signalling system.

Bianchi S, Dotti MT, Federico A. Bianchi S, et al. Among authors: federico a. J Cell Physiol. 2006 May;207(2):300-8. doi: 10.1002/jcp.20542. J Cell Physiol. 2006. PMID: 16270334 Review.

7

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.

Pescini F, Bianchi S, Salvadori E, Poggesi A, Dotti MT, Federico A, Inzitari D, Pantoni L. Pescini F, et al. Among authors: federico a. J Neurol Sci. 2008 Apr 15;267(1-2):170-3. doi: 10.1016/j.jns.2007.10.017. Epub 2007 Nov 19. J Neurol Sci. 2008. PMID: 18022198

8

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

Stromillo ML, Malandrini A, Dotti MT, Battaglini M, Borgogni F, Tessa A, Storti E, Denora PS, Santorelli FM, Gaudiano C, Battisti C, Federico A, De Stefano N. Stromillo ML, et al. Among authors: federico a. J Neurol. 2011 Dec;258(12):2240-7. doi: 10.1007/s00415-011-6106-x. Epub 2011 May 29. J Neurol. 2011. PMID: 21625935

9

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.

Pescini F, Nannucci S, Bertaccini B, Salvadori E, Bianchi S, Ragno M, Sarti C, Valenti R, Zicari E, Moretti M, Chiti S, Stromillo ML, De Stefano N, Dotti MT, Federico A, Inzitari D, Pantoni L. Pescini F, et al. Among authors: federico a. Stroke. 2012 Nov;43(11):2871-6. doi: 10.1161/STROKEAHA.112.665927. Epub 2012 Sep 20. Stroke. 2012. PMID: 22996955

10

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

Bianchi S, Dotti MT, Gallus GN, D'Eramo C, Di Donato I, Bernardi L, Maletta R, Puccio G, Bruni AC, Federico A. Bianchi S, et al. Among authors: federico a. Neurobiol Aging. 2013 Sep;34(9):2234.e9-12. doi: 10.1016/j.neurobiolaging.2013.03.005. Epub 2013 Apr 12. Neurobiol Aging. 2013. PMID: 23587639

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