Dürr A - Search Results

1

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

Paternotte C, Rudnicki D, Fizames C, Davoine CS, Mavel D, Dürr A, Samson D, Marquette C, Muselet D, Vega-Czarny N, Drouot N, Voit T, Fontaine B, Gyapay G, Auburger G, Weissenbach J, Hazan J. Paternotte C, et al. Among authors: durr a. Genome Res. 1998 Nov;8(11):1216-27. doi: 10.1101/gr.8.11.1216. Genome Res. 1998. PMID: 9847083 Free PMC article.

2

Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia.

Fontaine B, Rime CS, Hazan J, Dürr A, Stevanin G, Penet C, Reboul J, Agid Y, Lyon-Caen O, Baumann N, et al. Fontaine B, et al. Among authors: durr a. Neuromuscul Disord. 1995 Jan;5(1):11-7. doi: 10.1016/0960-8966(94)e0024-3. Neuromuscul Disord. 1995. PMID: 7719135

3

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: durr a. Am J Hum Genet. 1995 Jan;56(1):193-201. Am J Hum Genet. 1995. PMID: 7825578 Free PMC article.

4

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y, et al. Hazan J, et al. Among authors: durr a. Hum Mol Genet. 1994 Sep;3(9):1569-73. doi: 10.1093/hmg/3.9.1569. Hum Mol Genet. 1994. PMID: 7833913

5

The phenotype of "pure" autosomal dominant spastic paraplegia.

Dürr A, Brice A, Serdaru M, Rancurel G, Derouesné C, Lyon-Caen O, Agid Y, Fontaine B. Dürr A, et al. Neurology. 1994 Jul;44(7):1274-7. doi: 10.1212/wnl.44.7.1274. Neurology. 1994. PMID: 8035929

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. Brain. 1996 Oct;119 ( Pt 5):1487-96. doi: 10.1093/brain/119.5.1487. Brain. 1996. PMID: 8931574

7

The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.

Stevanin G, Sousa PS, Cancel G, Dürr A, Dubourg O, Nicholson GA, Weissenbach J, Jardim E, Agid Y, Cassa E, et al. Stevanin G, et al. Among authors: durr a. Neurobiol Dis. 1994 Nov;1(1-2):79-82. doi: 10.1006/nbdi.1994.0010. Neurobiol Dis. 1994. PMID: 9216989

8

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Casari G, et al. Among authors: durr a. Cell. 1998 Jun 12;93(6):973-83. doi: 10.1016/s0092-8674(00)81203-9. Cell. 1998. PMID: 9635427 Free article.

9

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: durr a. Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472. Nat Genet. 1999. PMID: 10610178

10

No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24.

Zander C, Yuan QP, Lindblad K, Stevanin G, Dürr A, Davoine CS, Hazan J, Fontaine B, Brice A, Schalling M. Zander C, et al. Among authors: durr a. Neurosci Lett. 2000 Jan 21;279(1):41-4. doi: 10.1016/s0304-3940(99)00946-5. Neurosci Lett. 2000. PMID: 10670783

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