Weissenbach J - Search Results

1

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

Fontaine B, Davoine CS, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. Fontaine B, et al. Among authors: weissenbach j. Am J Hum Genet. 2000 Feb;66(2):702-7. doi: 10.1086/302776. Am J Hum Genet. 2000. PMID: 10677329 Free PMC article.

2

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

Stevanin G, Cancel G, Dürr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A. Stevanin G, et al. Among authors: weissenbach j. Am J Hum Genet. 1995 Jan;56(1):193-201. Am J Hum Genet. 1995. PMID: 7825578 Free PMC article.

3

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.

Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Hazan J, et al. Among authors: weissenbach j. Nat Genet. 1993 Oct;5(2):163-7. doi: 10.1038/ng1093-163. Nat Genet. 1993. PMID: 8252041

4

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.

Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F. Fontaine B, et al. Among authors: weissenbach j. Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225. Hum Genet. 1996. PMID: 8707312

5

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

Vicart P, Dupret JM, Hazan J, Li Z, Gyapay G, Krishnamoorthy R, Weissenbach J, Fardeau M, Paulin D. Vicart P, et al. Among authors: weissenbach j. Hum Genet. 1996 Oct;98(4):422-9. doi: 10.1007/s004390050233. Hum Genet. 1996. PMID: 8792816

6

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

Dürr A, Davoine CS, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P, Lamy C, Bourgeois S, Prud'homme JF, Penet C, Mas JL, Burgunder JM, Hazan J, Weissenbach J, Brice A, Fontaine B. Dürr A, et al. Among authors: weissenbach j. Brain. 1996 Oct;119 ( Pt 5):1487-96. doi: 10.1093/brain/119.5.1487. Brain. 1996. PMID: 8931574

7

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: weissenbach j. Am J Hum Genet. 1996 Dec;59(6):1328-36. Am J Hum Genet. 1996. PMID: 8940279 Free PMC article.

8

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

Heinzlef O, Paternotte C, Mahieux F, Prud'homme JF, Dien J, Madigand M, Pouget J, Weissenbach J, Roullet E, Hazan J. Heinzlef O, et al. Among authors: weissenbach j. J Med Genet. 1998 Feb;35(2):89-93. doi: 10.1136/jmg.35.2.89. J Med Genet. 1998. PMID: 9507385 Free PMC article.

9

A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.

Hazan J, Davoine CS, Mavel D, Fonknechten N, Paternotte C, Fizames C, Cruaud C, Samson D, Muselet D, Vega-Czarny N, Brice A, Gyapay G, Heilig R, Fontaine B, Weissenbach J. Hazan J, et al. Among authors: weissenbach j. Genomics. 1999 Sep 15;60(3):309-19. doi: 10.1006/geno.1999.5932. Genomics. 1999. PMID: 10493830

10

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Hazan J, et al. Among authors: weissenbach j. Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472. Nat Genet. 1999. PMID: 10610178

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