Stevanin G - Search Results

1

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. Cagnoli C, et al. Among authors: stevanin g. J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17. J Mol Diagn. 2018. PMID: 29462666 Free article.

2

The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, Gemmill R, Weissenbach J, Wood N, Cunha S, Drabkin H, Harding AE, Agid Y, Brice A. David G, et al. Among authors: stevanin g. Am J Hum Genet. 1996 Dec;59(6):1328-36. Am J Hum Genet. 1996. PMID: 8940279 Free PMC article.

3

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A. David G, et al. Among authors: stevanin g. Nat Genet. 1997 Sep;17(1):65-70. doi: 10.1038/ng0997-65. Nat Genet. 1997. PMID: 9288099

4

Clinical and molecular features of spinocerebellar ataxia type 6.

Stevanin G, Dürr A, David G, Didierjean O, Cancel G, Rivaud S, Tourbah A, Warter JM, Agid Y, Brice A. Stevanin G, et al. Neurology. 1997 Nov;49(5):1243-6. doi: 10.1212/wnl.49.5.1243. Neurology. 1997. PMID: 9371901

5

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

Stevanin G, Giunti P, Belal GD, Dürr A, Ruberg M, Wood N, Brice A. Stevanin G, et al. Hum Mol Genet. 1998 Oct;7(11):1809-13. doi: 10.1093/hmg/7.11.1809. Hum Mol Genet. 1998. PMID: 9736784

6

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.

Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW. Giunti P, et al. Among authors: stevanin g. Am J Hum Genet. 1999 Jun;64(6):1594-603. doi: 10.1086/302406. Am J Hum Genet. 1999. PMID: 10330346 Free PMC article.

7

Clinical and MRI findings in spinocerebellar ataxia type 5.

Stevanin G, Herman A, Brice A, Dürr A. Stevanin G, et al. Neurology. 1999 Oct 12;53(6):1355-7. doi: 10.1212/wnl.53.6.1355. Neurology. 1999. PMID: 10522902

8

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).

Stevanin G, David G, Dürr A, Giunti P, Benomar A, Abada-Bendib M, Lee MS, Agid Y, Brice A. Stevanin G, et al. Eur J Hum Genet. 1999 Dec;7(8):889-96. doi: 10.1038/sj.ejhg.5200392. Eur J Hum Genet. 1999. PMID: 10602364

9

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. Stevanin G, et al. Arch Neurol. 2004 Aug;61(8):1242-8. doi: 10.1001/archneur.61.8.1242. Arch Neurol. 2004. PMID: 15313841

10

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.

Cagnoli C, Stevanin G, Michielotto C, Gerbino Promis G, Brussino A, Pappi P, Durr A, Dragone E, Viemont M, Gellera C, Brice A, Migone N, Brusco A. Cagnoli C, et al. Among authors: stevanin g. J Mol Diagn. 2006 Feb;8(1):128-32. doi: 10.2353/jmoldx.2006.050043. J Mol Diagn. 2006. PMID: 16436644 Free PMC article.

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