Grosso E - Search Results

1

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.

Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L. Brusco A, et al. Among authors: grosso e. J Neurol. 2002 Jul;249(7):923-9. doi: 10.1007/s00415-002-0760-y. J Neurol. 2002. PMID: 12140678

2

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.

Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C, Gabellini A, Rinaldi R, Miccoli S, Grosso E, Bellati MC, Orsi L, Migone N, Brusco A. Brussino A, et al. Among authors: grosso e. Mov Disord. 2010 Jul 15;25(9):1269-73. doi: 10.1002/mds.22835. Mov Disord. 2010. PMID: 20629122

3

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: grosso 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

4

Definition of the smallest pathological CAG expansion in SCA7.

Nardacchione A, Orsi L, Brusco A, Franco A, Grosso E, Dragone E, Mortara P, Schiffer D, De Marchi M. Nardacchione A, et al. Among authors: grosso e. Clin Genet. 1999 Sep;56(3):232-4. doi: 10.1034/j.1399-0004.1999.560309.x. Clin Genet. 1999. PMID: 10563484 No abstract available.

5

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.

Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG, Migone N, Pepe E, Grosso E, Brusco A. Calcia A, et al. Among authors: grosso e. Am J Med Genet A. 2013 Oct;161A(10):2656-62. doi: 10.1002/ajmg.a.36146. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038848 Review.

6

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

Longa L, Saluto A, Brusco A, Polidoro S, Padovan S, Allavena A, Carbonara C, Grosso E, Migone N. Longa L, et al. Among authors: grosso e. Hum Genet. 2001 Feb;108(2):156-66. doi: 10.1007/s004390100460. Hum Genet. 2001. PMID: 11281455

7

Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography.

Menegatti E, Ferrone M, Gallone S, Mameli M, Grosso E, Migone N. Menegatti E, et al. Among authors: grosso e. Contrib Nephrol. 2001;(136):306-11. doi: 10.1159/000060206. Contrib Nephrol. 2001. PMID: 11688398 No abstract available.

8

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.

Carbonara C, Longa L, Grosso E, Borrone C, Garrè MG, Brisigotti M, Migone N. Carbonara C, et al. Among authors: grosso e. Hum Mol Genet. 1994 Oct;3(10):1829-32. doi: 10.1093/hmg/3.10.1829. Hum Mol Genet. 1994. PMID: 7849708

9

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.

Carbonara C, Longa L, Grosso E, Mazzucco G, Borrone C, Garrè ML, Brisigotti M, Filippi G, Scabar A, Giannotti A, Falzoni P, Monga G, Garini G, Gabrielli M, Riegler P, Danesino C, Ruggieri M, Magro G, Migone N. Carbonara C, et al. Among authors: grosso e. Genes Chromosomes Cancer. 1996 Jan;15(1):18-25. doi: 10.1002/(SICI)1098-2264(199601)15:1<18::AID-GCC3>3.0.CO;2-7. Genes Chromosomes Cancer. 1996. PMID: 8824721

10

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.

Grimaldi S, Cupidi C, Smirne N, Bernardi L, Giacalone F, Piccione G, Basiricò S, Mangano GD, Nardello R, Orsi L, Grosso E, Laganà V, Mitolo M, Maletta RG, Bruni AC. Grimaldi S, et al. Among authors: grosso e. Mov Disord. 2019 Dec;34(12):1919-1924. doi: 10.1002/mds.27879. Epub 2019 Nov 21. Mov Disord. 2019. PMID: 31755148

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