Bonnebouche C - Search Results

1

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.

Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, et al. Latour P, et al. Among authors: bonnebouche c. Hum Mutat. 1995;6(1):50-4. doi: 10.1002/humu.1380060110. Hum Mutat. 1995. PMID: 7550231

2

A RsaI RFLP at the human myelin protein zero (MPZ) locus.

Latour P, Bonnebouche C, Bost M, Diraison P, Chapon F, Boucherat M, Vandenberghe A. Latour P, et al. Among authors: bonnebouche c. Clin Genet. 1994 Oct;46(4):327-8. doi: 10.1111/j.1399-0004.1994.tb04172.x. Clin Genet. 1994. PMID: 7530611 No abstract available.

3

Modelization of motor nerve conduction velocities for Charcot-Marie-Tooth (Type-1) patients. CMT-France Network.

Sturtz FG, Chauvin F, Ollagnon-Roman E, Bost M, Latour P, Bonnebouche C, Gonnaud PM, Bady B, Chazot G, Vandenberghe A. Sturtz FG, et al. Among authors: bonnebouche c. Eur Neurol. 1996;36(4):224-8. doi: 10.1159/000117254. Eur Neurol. 1996. PMID: 8814426

4

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.

Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A. Blanquet-Grossard F, et al. Among authors: bonnebouche c. Clin Genet. 1995 Dec;48(6):281-3. doi: 10.1111/j.1399-0004.1995.tb04109.x. Clin Genet. 1995. PMID: 8835320

5

Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.

Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Diraison P, Chapon F, Chazot G, Vandenberghe A. Blanquet-Grossard F, et al. Among authors: bonnebouche c. Hum Mutat. 1996;8(2):185-6. doi: 10.1002/(SICI)1098-1004(1996)8:2<185::AID-HUMU13>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8844219 No abstract available.

6

New allele of probe D17S61 present in the Charcot-Marie-Tooth 1A duplication.

Bost M, Bonnebouche C, Gonnaud PM, Cochat P, Gilbert B, Dupont C, Chazot G, Vandenberghe A. Bost M, et al. Among authors: bonnebouche c. Clin Genet. 1994 Nov;46(5):380-1. doi: 10.1111/j.1399-0004.1994.tb04184.x. Clin Genet. 1994. PMID: 7889651 No abstract available.

7

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

Chapon F, Diraison P, Lechevalier B, Chazot G, Viader F, Bonnebouche C, Vandenberghe A, Timmerman V, Van Broeckhoven C, Vandenberghe A. Chapon F, et al. Among authors: bonnebouche c. J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):535-6. doi: 10.1136/jnnp.61.5.535. J Neurol Neurosurg Psychiatry. 1996. PMID: 8937360 Free PMC article. No abstract available.

8

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).

Le Guern E, Sturtz F, Gugenheim M, Gouider R, Bonnebouche C, Ravisé N, Gonnaud PM, Tardieu S, Bouche P, Chazot G, et al. Le Guern E, et al. Among authors: bonnebouche c. Cytogenet Cell Genet. 1994;65(4):261-4. doi: 10.1159/000133643. Cytogenet Cell Genet. 1994. PMID: 7903071

9

DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations.

Gonnaud PM, Sturtz F, Fourbil Y, Bonnebouche C, Tranchant C, Warter JM, Chazot G, Bady B, Vial C, Brechard AS, et al. Gonnaud PM, et al. Among authors: bonnebouche c. Acta Neurol Scand. 1995 Oct;92(4):313-8. doi: 10.1111/j.1600-0404.1995.tb00135.x. Acta Neurol Scand. 1995. PMID: 8848937

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