Storti E - Search Results

1

Hereditary spastic paraplegia type 11 with a very late onset.

Rubegni A, Storti E, Tessa A, Federico A, Santorelli FM. Rubegni A, et al. Among authors: storti e. J Neurol. 2015 Aug;262(8):1987-9. doi: 10.1007/s00415-015-7854-9. Epub 2015 Jul 17. J Neurol. 2015. PMID: 26183056 No abstract available.

2

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, Pasquariello R, Santorelli FM. Tessa A, et al. Among authors: storti e. Eur J Neurol. 2016 Oct;23(10):1580-7. doi: 10.1111/ene.13085. Epub 2016 Jul 22. Eur J Neurol. 2016. PMID: 27444738

3

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: storti e. J Neurol. 2011 Dec;258(12):2240-7. doi: 10.1007/s00415-011-6106-x. Epub 2011 May 29. J Neurol. 2011. PMID: 21625935

4

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

Racis L, Tessa A, Di Fabio R, Storti E, Agnetti V, Casali C, Santorelli FM, Pugliatti M. Racis L, et al. Among authors: storti e. J Neurol. 2014 Jan;261(1):52-9. doi: 10.1007/s00415-013-7151-4. Epub 2013 Oct 20. J Neurol. 2014. PMID: 24141732

5

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM. Racis L, et al. Among authors: storti e. Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9. Eur J Paediatr Neurol. 2014. PMID: 24144828 Review.

6

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.

Racis L, Storti E, Pugliatti M, Agnetti V, Tessa A, Santorelli FM. Racis L, et al. Among authors: storti e. BMC Med Genet. 2014 Apr 1;15:39. doi: 10.1186/1471-2350-15-39. BMC Med Genet. 2014. PMID: 24690193 Free PMC article.

7

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.

Leonardi L, Ziccardi L, Marcotulli C, Rubegni A, Longobardi A, Serrao M, Storti E, Pierelli F, Tessa A, Parisi V, Santorelli FM, Carlo C. Leonardi L, et al. Among authors: storti e. J Neurol. 2016 Apr;263(4):781-3. doi: 10.1007/s00415-016-8066-7. Epub 2016 Feb 25. J Neurol. 2016. PMID: 26914923

8

Large deletion mutation of SPAST in a multi-generation family from Sardinia.

Racis L, Di Fabio R, Tessa A, Guillot F, Storti E, Piccolo F, Nesti C, Tedde A, Pierelli F, Agnetti V, Santorelli FM, Casali C. Racis L, et al. Among authors: storti e. Eur J Neurol. 2014 Jun;21(6):935-8. doi: 10.1111/ene.12290. Epub 2013 Nov 4. Eur J Neurol. 2014. PMID: 24824741

9

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

Di Fabio R, Marcotulli C, Tessa A, Leonardi L, Storti E, Pierelli F, Santorelli FM, Casali C. Di Fabio R, et al. Among authors: storti e. J Neurol. 2014 Apr;261(4):747-51. doi: 10.1007/s00415-014-7247-5. Epub 2014 Feb 12. J Neurol. 2014. PMID: 24519355

10

Acute optic neuropathy associated with a novel MFN2 mutation.

Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Parisi V, Santorelli FM, Pierelli F, Casali C. Leonardi L, et al. Among authors: storti e. J Neurol. 2015 Jul;262(7):1678-80. doi: 10.1007/s00415-015-7756-x. Epub 2015 May 10. J Neurol. 2015. PMID: 25957633

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