Loi M - Search Results

1

Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?

Bentivoglio AR, Loi M, Valente EM, Ialongo T, Tonali P, Albanese A. Bentivoglio AR, et al. Among authors: loi m. Mov Disord. 2002 Sep;17(5):1058-63. doi: 10.1002/mds.10236. Mov Disord. 2002. PMID: 12360559

2

Impaired body movement representation in DYT1 mutation carriers.

Fiorio M, Gambarin M, Defazio G, Valente EM, Stanzani C, Moretto G, Loi M, Soliveri P, Nardocci N, Albanese A, Fiaschi A, Tinazzi M. Fiorio M, et al. Among authors: loi m. Clin Neurophysiol. 2008 Aug;119(8):1864-1869. doi: 10.1016/j.clinph.2008.04.292. Epub 2008 Jun 19. Clin Neurophysiol. 2008. PMID: 18571468

3

Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?

Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M. Fiorio M, et al. Among authors: loi m. Brain. 2007 Jan;130(Pt 1):134-42. doi: 10.1093/brain/awl283. Epub 2006 Nov 14. Brain. 2007. PMID: 17105745

4

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.

Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Walter M, et al. Among authors: loi m. Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4. Neurobiol Dis. 2010. PMID: 20053375

5

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA. Cau M, et al. Among authors: loi m. J Hum Genet. 2006;51(11):1030-1036. doi: 10.1007/s10038-006-0049-6. Epub 2006 Sep 6. J Hum Genet. 2006. PMID: 16955230

6

Reflex periodic spasms induced by eating.

Labate A, Colosimo E, Gambardella A, Leggio U, Ambrosio R, Loi M, Quattrone A. Labate A, et al. Among authors: loi m. Brain Dev. 2006 Apr;28(3):170-4. doi: 10.1016/j.braindev.2005.06.005. Epub 2006 Jan 18. Brain Dev. 2006. PMID: 16413721

7

OCRL mutation analysis in Italian patients with Lowe syndrome.

Addis M, Loi M, Lepiani C, Cau M, Melis MA. Addis M, et al. Among authors: loi m. Hum Mutat. 2004 May;23(5):524-5. doi: 10.1002/humu.9239. Hum Mutat. 2004. PMID: 15108291

8

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.

Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA. Cau M, et al. Among authors: loi a, loi m. Eur J Med Genet. 2009 Sep-Oct;52(5):344-8. doi: 10.1016/j.ejmg.2009.05.002. Epub 2009 May 18. Eur J Med Genet. 2009. PMID: 19454328

9

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.

Nucaro AL, Meloni M, Pisano T, Melis P, Rossi E, Rossino R, Corona S, Loi M, Achena F, Zuffardi O, Cianchetti C. Nucaro AL, et al. Among authors: loi m. Am J Med Genet A. 2008 Dec 15;146A(24):3242-5. doi: 10.1002/ajmg.a.32590. Am J Med Genet A. 2008. PMID: 19012344 No abstract available.

10

Lowe syndrome.

Loi M. Loi M. Orphanet J Rare Dis. 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. Orphanet J Rare Dis. 2006. PMID: 16722554 Free PMC article. Review.

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