Agid Y - Search Results

1

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P. Birouk N, et al. Among authors: agid y. Brain. 1997 May;120 ( Pt 5):813-23. doi: 10.1093/brain/120.5.813. Brain. 1997. PMID: 9183252

2

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.

Le Guern E, Ravise N, Gugenheim M, Vignal A, Penet C, Bouche P, Weissenbach J, Agid Y, Brice A. Le Guern E, et al. Among authors: agid y. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):463-9. doi: 10.1016/0960-8966(94)90085-x. Neuromuscul Disord. 1994. PMID: 7881290

3

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.

Gouider R, LeGuern E, Emile J, Tardieu S, Cabon F, Samid M, Weissenbach J, Agid Y, Bouche P, Brice A. Gouider R, et al. Among authors: agid y. Neurology. 1994 Dec;44(12):2250-2. doi: 10.1212/wnl.44.12.2250. Neurology. 1994. PMID: 7991107

4

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A. Lopes J, et al. Among authors: agid y. Am J Hum Genet. 1996 Jun;58(6):1223-30. Am J Hum Genet. 1996. PMID: 8651299 Free PMC article.

5

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A. Rouger H, et al. Among authors: agid y. Hum Mutat. 1997;10(6):443-52. doi: 10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1997. PMID: 9401007

6

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P. Birouk N, et al. Among authors: agid y. Neurology. 1998 Apr;50(4):1074-82. doi: 10.1212/wnl.50.4.1074. Neurology. 1998. PMID: 9566397

7

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. Among authors: agid y. Neurology. 1994 Jul;44(7):1274-7. doi: 10.1212/wnl.44.7.1274. Neurology. 1994. PMID: 8035929

8

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.

Benomar A, Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A. Benomar A, et al. Among authors: agid y. Ann Neurol. 1994 Apr;35(4):439-44. doi: 10.1002/ana.410350411. Ann Neurol. 1994. PMID: 8154871

9

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.

Dürr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, Agid Y, Brice A. Dürr A, et al. Among authors: agid y. Brain. 1993 Dec;116 ( Pt 6):1497-508. doi: 10.1093/brain/116.6.1497. Brain. 1993. PMID: 8293283

10

Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.

LeGuern E, Ravise N, Gouider R, Gugenheim M, Lopes J, Bouche P, Agid Y, Brice A. LeGuern E, et al. Among authors: agid y. Cytogenet Cell Genet. 1996;72(1):20-5. doi: 10.1159/000134153. Cytogenet Cell Genet. 1996. PMID: 8565626

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