Bouslam N - Search Results

1

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

Ribai P, Stevanin G, Bouslam N, Pontier B, Nelson I, Fontaine B, Dussert C, Charon C, Durr A, Brice A. Ribai P, et al. Among authors: bouslam n. J Neurol. 2006 Jun;253(6):714-9. doi: 10.1007/s00415-006-0094-2. Epub 2006 Mar 6. J Neurol. 2006. PMID: 16511635

2

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Le Ber I, Bouslam N, Rivaud-Péchoux S, Guimarães J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Dürr A. Le Ber I, et al. Among authors: bouslam n. Brain. 2004 Apr;127(Pt 4):759-67. doi: 10.1093/brain/awh080. Epub 2004 Jan 21. Brain. 2004. PMID: 14736755

3

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. Among authors: bouslam n. Arch Neurol. 2004 Aug;61(8):1242-8. doi: 10.1001/archneur.61.8.1242. Arch Neurol. 2004. PMID: 15313841

4

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. Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416. Ann Neurol. 2005. PMID: 15786464

5

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. Among authors: bouslam n. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628. Ann Neurol. 2005. PMID: 16193476

6

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. Among authors: bouslam n. Brain. 2006 Jun;129(Pt 6):1456-62. doi: 10.1093/brain/awl012. Epub 2006 Jan 24. Brain. 2006. PMID: 16434418

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. Among authors: bouslam n. 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

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A. Stevanin G, et al. Among authors: bouslam n. Ann Neurol. 2004 Jan;55(1):97-104. doi: 10.1002/ana.10798. Ann Neurol. 2004. PMID: 14705117

9

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: bouslam n. Arch Neurol. 2006 May;63(5):756-60. doi: 10.1001/archneur.63.5.756. Arch Neurol. 2006. PMID: 16682547

10

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM. Stevanin G, et al. Among authors: bouslam n. Neurogenetics. 2006 Jul;7(3):149-56. doi: 10.1007/s10048-006-0044-2. Epub 2006 May 13. Neurogenetics. 2006. PMID: 16699786

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