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Items: 1 to 20 of 176

1.

Cannabinoid receptor type 1 agonist ACEA improves motor recovery and protects neurons in ischemic stroke in mice.

Caltana L, Trinidad SM, Aronne MP, Brusco A.

J Neurochem. 2015 Aug 22. doi: 10.1111/jnc.13288. [Epub ahead of print]

PMID:
26296704
2.

Oleanolic acid: a promising neuroprotective agent for cerebral ischemia.

Caltana L, Nieto ML, Brusco A.

Neural Regen Res. 2015 Apr;10(4):540-1. doi: 10.4103/1673-5374.155414. No abstract available.

3.

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.

Mandrile G, Di Gregorio E, Goel H, Giachino D, De Mercanti S, Iudicello M, Rolando M, Losa S, De Marchi M, Brusco A.

Cerebellum. 2015 May 22. [Epub ahead of print] No abstract available.

PMID:
25998497
4.

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A.

BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0.

5.

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia.

Squadrone S, Brizio P, Mancini C, Pozzi E, Cavalieri S, Abete MC, Brusco A.

Neurobiol Dis. 2015 Apr 13. pii: S0969-9961(15)00125-4. doi: 10.1016/j.nbd.2015.04.001. [Epub ahead of print]

PMID:
25882094
6.

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A.

J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7.

PMID:
25873210
7.

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A.

Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.

8.

Further Evidence for the Neuroplastic Role of Cannabinoids: A Study in Organotypic Hippocampal Slice Cultures.

Caltana LR, Heimrich B, Brusco A.

J Mol Neurosci. 2015 Aug;56(4):773-81. doi: 10.1007/s12031-015-0499-4. Epub 2015 Feb 3.

PMID:
25645684
9.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30.

10.

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.

Case Rep Genet. 2014;2014:470830. doi: 10.1155/2014/470830. Epub 2014 Nov 23.

11.

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.

Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A.

Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.

12.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.

J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31.

PMID:
25359263
13.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.

Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5.

PMID:
25351776
14.

Further evidence for the neuroprotective role of oleanolic acid in a model of focal brain hypoxia in rats.

Caltana L, Rutolo D, Nieto ML, Brusco A.

Neurochem Int. 2014 Dec;79:79-87. doi: 10.1016/j.neuint.2014.09.011. Epub 2014 Oct 2.

PMID:
25280833
15.

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Rubino E, Giorgio E, Gallone S, Pinessi L, Orsi L, Gentile S, Duca S, Brusco A.

J Neurol. 2014 Oct;261(10):2019-21. doi: 10.1007/s00415-014-7475-8. Epub 2014 Sep 2. No abstract available.

PMID:
25178512
16.

ELOVL5 mutations cause spinocerebellar ataxia 38.

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A.

Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24.

17.

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); EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.

PMID:
24972706
18.

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

PMID:
24819041
19.

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
20.
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