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Results: 1 to 20 of 160

1.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); the EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Jun 26. pii: awu174. [Epub ahead of print]

PMID:
24972706
[PubMed - as supplied by publisher]
2.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R.

Am J Med Genet A. 2014 Aug;164(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12.

PMID:
24819041
[PubMed - in process]
3.

Changes in CNS cells in hyperammonemic portal hypertensive rats.

Tallis S, Caltana LR, Souto PA, Delfante AE, Lago NR, Brusco A, Perazzo JC.

J Neurochem. 2014 Feb;128(3):431-44. doi: 10.1111/jnc.12458. Epub 2013 Oct 24.

PMID:
24382264
[PubMed - indexed for MEDLINE]
4.

Prenatal exposure to the CB1 and CB2 cannabinoid receptor agonist WIN 55,212-2 alters migration of early-born glutamatergic neurons and GABAergic interneurons in the rat cerebral cortex.

Saez TM, Aronne MP, Caltana L, Brusco AH.

J Neurochem. 2014 May;129(4):637-48. doi: 10.1111/jnc.12636. Epub 2014 Jan 6.

PMID:
24329778
[PubMed - indexed for MEDLINE]
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.

Am J Med Genet A. 2013 Oct;161(10):2656-62. doi: 10.1002/ajmg.a.36146. Epub 2013 Aug 16. Review.

PMID:
24038848
[PubMed - indexed for MEDLINE]
6.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.

Orphanet J Rare Dis. 2013 Aug 14;8:123. doi: 10.1186/1750-1172-8-123.

PMID:
23941260
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Synaptic plasticity alterations associated with memory impairment induced by deletion of CB2 cannabinoid receptors.

García-Gutiérrez MS, Ortega-Álvaro A, Busquets-García A, Pérez-Ortiz JM, Caltana L, Ricatti MJ, Brusco A, Maldonado R, Manzanares J.

Neuropharmacology. 2013 Oct;73:388-96. doi: 10.1016/j.neuropharm.2013.05.034. Epub 2013 Jun 21.

PMID:
23796670
[PubMed - in process]
8.

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A.

BMC Med Genomics. 2013 Jun 18;6:22. doi: 10.1186/1755-8794-6-22.

PMID:
23777634
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.

Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A.

J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7.

PMID:
23749989
[PubMed - indexed for MEDLINE]
10.

Progressive extreme heterotopic calcification.

Silengo M, Defilippi C, Belligni E, Biamino E, Flex E, Brusco A, Ferrero GB, Tartaglia M, Hennekam RC.

Am J Med Genet A. 2013 Jul;161A(7):1706-13. doi: 10.1002/ajmg.a.35944. Epub 2013 May 17.

PMID:
23686761
[PubMed - indexed for MEDLINE]
11.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.

Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Erratum in: Hum Mutat. 2014 Jan;35(1):149.

PMID:
23649844
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.

Coppola A, Bagnasco I, Traverso M, Brusco A, Di Gregorio E, Del Gaudio L, Santulli L, Caccavale C, Vigliano P, Minetti C, Striano S, Zara F, Striano P.

Epilepsia. 2013 May;54(5):e69-73. doi: 10.1111/epi.12130. Epub 2013 Feb 28.

PMID:
23448223
[PubMed - indexed for MEDLINE]
13.

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Cavalieri S, Pozzi E, Gatti RA, Brusco A.

Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266. Epub 2012 Dec 5.

PMID:
23211698
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.

Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.

PMID:
23065789
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, Pietrogrande MC, Martino S, Leuzzi V, Finocchi A, Micheli R, Rossi LN, Brusco A, Misiani F, Fois A, Hayek J, Kelly C, Chessa L.

Mov Disord. 2012 Sep 1;27(10):1312-6. doi: 10.1002/mds.25126. Epub 2012 Aug 23.

PMID:
22927201
[PubMed - indexed for MEDLINE]
16.

Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation.

Morone S, Lo-Buono N, Parrotta R, Giacomino A, Nacci G, Brusco A, Larionov A, Ostano P, Mello-Grand M, Chiorino G, Ortolan E, Funaro A.

PLoS One. 2012;7(8):e43649. doi: 10.1371/journal.pone.0043649. Epub 2012 Aug 20.

PMID:
22916288
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17.

PMID:
22903806
[PubMed - indexed for MEDLINE]
18.

Stress-induced sensitization to cocaine: actin cytoskeleton remodeling within mesocorticolimbic nuclei.

Esparza MA, Bollati F, Garcia-Keller C, Virgolini MB, Lopez LM, Brusco A, Shen HW, Kalivas PW, Cancela LM.

Eur J Neurosci. 2012 Oct;36(8):3103-17. doi: 10.1111/j.1460-9568.2012.08239.x. Epub 2012 Aug 12.

PMID:
22882295
[PubMed - indexed for MEDLINE]
19.

Attenuated response to methamphetamine sensitization and deficits in motor learning and memory after selective deletion of β-catenin in dopamine neurons.

Diaz-Ruiz O, Zhang Y, Shan L, Malik N, Hoffman AF, Ladenheim B, Cadet JL, Lupica CR, Tagliaferro A, Brusco A, Bäckman CM.

Learn Mem. 2012 Jul 20;19(8):341-50. doi: 10.1101/lm.026716.112.

PMID:
22822182
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U.

Haematologica. 2012 Dec;97(12):1813-7. doi: 10.3324/haematol.2012.062281. Epub 2012 Jun 11.

PMID:
22689679
[PubMed - indexed for MEDLINE]
Free PMC Article

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