Babalini C - Search Results

1

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S. Montenegro G, et al. Among authors: babalini c. J Clin Invest. 2012 Feb;122(2):538-44. doi: 10.1172/JCI60560. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232211 Free PMC article.

2

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

Orlacchio A, Montieri P, Babalini C, Gaudiello F, Bernardi G, Kawarai T. Orlacchio A, et al. Among authors: babalini c. J Neurol. 2011 Jul;258(7):1361-3. doi: 10.1007/s00415-011-5934-z. Epub 2011 Feb 19. J Neurol. 2011. PMID: 21336785 No abstract available.

3

Spastic paraplegia in Romania: high prevalence of SPG4 mutations.

Orlacchio A, Patrono C, Borreca A, Babalini C, Bernardi G, Kawarai T. Orlacchio A, et al. Among authors: babalini c. J Neurol Neurosurg Psychiatry. 2008 May;79(5):606-7. doi: 10.1136/jnnp.2007.128827. Epub 2007 Oct 30. J Neurol Neurosurg Psychiatry. 2008. PMID: 17971434 No abstract available.

4

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: babalini c. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158

5

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, Munhoz RP, Rogaeva EA, St George-Hyslop PH, Bernardi G, Kawarai T. Orlacchio A, et al. Among authors: babalini c. Brain. 2010 Feb;133(Pt 2):591-8. doi: 10.1093/brain/awp325. Epub 2010 Jan 28. Brain. 2010. PMID: 20110243 Free PMC article.

6

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

Carosi L, Lo Giudice T, Di Lullo M, Lombardi F, Babalini C, Gaudiello F, Marfia GA, Massa R, Kawarai T, Orlacchio A. Carosi L, et al. Among authors: babalini c. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28. J Neurol Neurosurg Psychiatry. 2015. PMID: 25352184 Free PMC article. No abstract available.

7

Restriction fragment length polymorphisms of type I collagen locus 2 (COL1A2) in two communities of African ancestry and other mixed populations of northwestern Ecuador.

Rickards O, Martínez-Labarga C, Trucchi E, Renzi F, Casalotti R, Babalini C, Biondi G, Pepe G, De Stefano G. Rickards O, et al. Among authors: babalini c. Hum Biol. 2005 Feb;77(1):115-23. doi: 10.1353/hub.2005.0031. Hum Biol. 2005. PMID: 16114820

8

The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view.

Babalini C, Martínez-Labarga C, Tolk HV, Kivisild T, Giampaolo R, Tarsi T, Contini I, Barać L, Janićijević B, Martinović Klarić I, Pericić M, Sujoldzić A, Villems R, Biondi G, Rudan P, Rickards O. Babalini C, et al. Eur J Hum Genet. 2005 Aug;13(8):902-12. doi: 10.1038/sj.ejhg.5201439. Eur J Hum Genet. 2005. PMID: 15886710

9

COL1A2 (type I collagen) polymorphisms in the Colorado Indians of Ecuador.

Babalini C, Tarsi T, Martínez-Labarga C, Scano G, Pepe G, De Stefano GF, Rickards O. Babalini C, et al. Ann Hum Biol. 2005 Sep-Oct;32(5):666-78. doi: 10.1080/03014460500175355. Ann Hum Biol. 2005. PMID: 16316921 Free article.

10

Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya.

Martinez-Labarga C, Lelli R, Tarsi T, Babalini C, De Angelis F, Ottoni C, Giambra V, Pepe G, Azebi E, Frezza D, Biondi G, Rickards O. Martinez-Labarga C, et al. Among authors: babalini c. Ann Hum Biol. 2007 Jul-Aug;34(4):425-36. doi: 10.1080/03014460701362356. Ann Hum Biol. 2007. PMID: 17620151 Free article.

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