Di Gregorio E - Search Results

1

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Mandrile G, Di Gregorio E, Calcia A, Brussino A, Grosso E, Savin E, Giachino DF, Brusco A. Mandrile G, et al. Among authors: di gregorio e. Case Rep Genet. 2014;2014:470830. doi: 10.1155/2014/470830. Epub 2014 Nov 23. Case Rep Genet. 2014. PMID: 25506442 Free PMC article.

2

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

Cagnoli C, Brussino A, Di Gregorio E, Brusco A, Stevanin G, Durr A, Brice A. Cagnoli C, et al. Among authors: di gregorio e. Mov Disord. 2007 Apr 15;22(5):752-3. doi: 10.1002/mds.21389. Mov Disord. 2007. PMID: 17290458 No abstract available.

3

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.

Cagnoli C, Brussino A, Sbaiz L, Di Gregorio E, Atzori C, Caroppo P, Orsi L, Migone N, Buffa C, Imperiale D, Brusco A. Cagnoli C, et al. Among authors: di gregorio e. Mov Disord. 2008 Jul 30;23(10):1468-71. doi: 10.1002/mds.21953. Mov Disord. 2008. PMID: 18566986

4

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. Brussino A, et al. Among authors: di gregorio e. J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330. J Neurol Neurosurg Psychiatry. 2009. PMID: 19151023 Free article.

5

Mutations in the lamin B1 gene are not present in multiple sclerosis.

Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Brussino A, et al. Among authors: di gregorio e. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623

6

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.

Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac GB, Pinessi L, Cavalieri S, Grosso E, Migone N, Brusco A. Brussino A, et al. Among authors: di gregorio e. Eur J Neurol. 2010 Apr;17(4):541-9. doi: 10.1111/j.1468-1331.2009.02844.x. Epub 2009 Dec 4. Eur J Neurol. 2010. PMID: 19961535

7

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A. Di Gregorio E, et al. Cerebellum. 2010 Mar;9(1):115-23. doi: 10.1007/s12311-009-0154-0. Cerebellum. 2010. PMID: 20082166

8

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline.

Castrioto A, Prontera P, Di Gregorio E, Rossi V, Parnetti L, Rossi A, Donti E, Brusco A, Calabresi P, Tambasco N. Castrioto A, et al. Among authors: di gregorio e. Eur J Neurol. 2011 Oct;18(10):1263-5. doi: 10.1111/j.1468-1331.2011.03366.x. Epub 2011 Mar 7. Eur J Neurol. 2011. PMID: 21382133

9

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.

Belligni EF, Di Gregorio E, Biamino E, Calcia A, Molinatto C, Talarico F, Ferrero GB, Brusco A, Silengo MC. Belligni EF, et al. Among authors: di gregorio e. Eur J Med Genet. 2012 Mar;55(3):222-4. doi: 10.1016/j.ejmg.2012.01.016. Epub 2012 Feb 6. Eur J Med Genet. 2012. PMID: 22365944

10

De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.

Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C. Cirillo E, et al. Among authors: di gregorio e. Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903806 Free article.

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