Klebe S - Search Results

1

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. Klebe S, et al. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628. Ann Neurol. 2005. PMID: 16193476

2

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G. Bouslam N, et al. Among authors: klebe s. Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416. Ann Neurol. 2005. PMID: 15786464

3

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G. Klebe S, et al. Brain. 2006 Jun;129(Pt 6):1456-62. doi: 10.1093/brain/awl012. Epub 2006 Jan 24. Brain. 2006. PMID: 16434418

4

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM, Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z, Brice A. Lossos A, et al. Among authors: klebe s. Arch Neurol. 2006 May;63(5):756-60. doi: 10.1001/archneur.63.5.756. Arch Neurol. 2006. PMID: 16682547

5

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poea-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G. Klebe S, et al. Neurogenetics. 2007 Apr;8(2):155-7. doi: 10.1007/s10048-006-0074-9. Epub 2007 Jan 5. Neurogenetics. 2007. PMID: 17205300 No abstract available.

6

A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Augé A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G. Bouslam N, et al. Among authors: klebe s. Hum Genet. 2007 May;121(3-4):413-20. doi: 10.1007/s00439-007-0328-0. Epub 2007 Feb 2. Hum Genet. 2007. PMID: 17273843

7

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, Brice A, Stevanin G. Klebe S, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):854-61. doi: 10.1002/ajmg.b.30518. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17503452

8

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis E, Cruz VT, Dürr A, Prud'homme JF, Weissenbach J, Brice A, Hazan J. Stevanin G, et al. Among authors: klebe s. Neurology. 2007 May 22;68(21):1837-40. doi: 10.1212/01.wnl.0000262043.53386.22. Neurology. 2007. PMID: 17515546

9

Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.

Klebe S, Faivre L, Forlani S, Dussert C, Tourbah A, Brice A, Stevanin G, Durr A. Klebe S, et al. Arch Neurol. 2007 Jun;64(6):913-4. doi: 10.1001/archneur.64.6.913. Arch Neurol. 2007. PMID: 17562946 No abstract available.

10

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G. Elleuch N, et al. Among authors: klebe s. Neurogenetics. 2007 Nov;8(4):307-15. doi: 10.1007/s10048-007-0097-x. Epub 2007 Jul 28. Neurogenetics. 2007. PMID: 17661097

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