Search Results - "Didierjean, O."

Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations by Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Dürr, A., Oyake, M., Shimohata, T., Sasaki, R., Koide, R., Igarashi, S., Hayashi, S., Takiyama, Y., Nishizawa, M., Tanaka, H., Zoghbi, H., Brice, A., Tsuji, S.

“…To test the hypothesis that the frequencies of normal alleles (ANs) with a relatively large number of CAG repeats (large ANs) are related to the prevalences of…”
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Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3 by Bürk, K., Abele, M., Fetter, M., Dichgans, J., Skalej, M., Laccone, F., Didierjean, O., Brice, A., Klockgether, T.

“…Summary Sixty-five patients suffering from autosomal dominant cerebellar ataxia-1(ADCA-1) were subjected to a genotype phenotype correlation analysis using…”
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Clinical and molecular features of spinocerebellar ataxia type 6 by STEVANIN, G, DÜRR, A, DAVID, G, DIDIERJEAN, O, CANCEL, G, RIVAUD, S, TOURBAH, A, WARTER, J.-M, AGID, Y, BRICE, A

“…The mutation involved in spinocerebellar ataxia type 6 (SCA6) is a small CAG expansion in the alpha-1A subunit of the voltage-dependent calcium channel gene…”
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Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation by Stevanin, G, Cancel, G, Didierjean, O, Dürr, A, Abbas, N, Cassa, E, Feingold, J, Agid, Y, Brice, A

“…Spinal cerebellar ataxia 3 (SCA3) is a genetic subtype of the type I autosomal dominant cerebellar ataxias (ADCA type I), a clinically and genetically…”
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Linkage disequilibrium at the SCA2 locus by Didierjean, Olivier, Cancel, Géraldine, Stevanin, Giovanni, Dürr, Alexandra, Bürk, Katrin, Benomar, Ali, Lezin, Agnès, Belal, Samir, Abada-Bendid, Myriem, Klockgether, Thomas, Brice, Alexis

“…Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. Repeats with 32 to 200 CAGs are…”
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Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus by BÜRK, K, STEVANIN, G, DIDIERJEAN, O, CANCEL, G, TROTTIER, Y, SKALEJ, M, ABELE, M, BRICE, A, DICHGANS, J, KLOCKGETHER, T

“…The detailed clinical, electrophysiological and imaging data of three German autosomal dominant cerebellar ataxia (ADCA) families are reported. Linkage to SCA2…”
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Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon by STEVANIN, GIOVANNI, LEBRE, ANNE-SOPHIE, MATHIEUX, CÉCILE, CANCEL, GÉRALDINE, ABBAS, NACER, DIDIERJEAN, OLIVIER, DÜRR, ALEXANDRA, TROTTIER, YVON, AGID, YVES, BRICE, ALEXIS

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No effect of the α1-antichymotrypsin A allele in Alzheimer’s disease by Didierjean, O, Martinez, M, Campion, D, Hannequin, D, Dubois, B, Martin, C, Puel, M, Anterion, C Thomas, Pasquier, F, Moreau, O, Babron, M C, Penet, C, Agid, Y, Clerget-Darpoux, F, Frebourg, T, Brice, A

“…The apolipoprotein E (ApoE)-ε4 allele is associated in a dose dependent manner to an increased risk for Alzheimer’s disease. However, the ApoE-ε4 allele effect…”
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Apolipoprotein E genotype does not affect age at onset in patients with chromosome 14 encoded Alzheimer's disease

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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats by Mandel, Jean-Louis, Abbas, Nacer, Dürr, Alexandra, Devys, Didier, Brice, Alexis, Saudou, Frédéric, Cancel, Gëraldine, Trottier, Yvon, Stevanin, Giovanni, Didierjean, Olivier, Yvert, Gaël, Weber, Chantal, Garnier, Jean-Marie, Agid, Yves, Imbert, Georges

“…Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By…”
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Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features by Dürr, A, Stevanin, G, Cancel, G, Duyckaerts, C, Abbas, N, Didierjean, O, Chneiweiss, H, Benomar, A, Lyon-Caen, O, Julien, J, Serdaru, M, Penet, C, Agid, Y, Brice, A

“…Patients with spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) carry an expanded CAG repeat in the MJD1 gene. One hundred twenty families of…”
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Mutations of the presenilin I gene in families with early-onset Alzheimer's disease by Campion, D, Flaman, J M, Brice, A, Hannequin, D, Dubois, B, Martin, C, Moreau, V, Charbonnier, F, Didierjean, O, Tardieu, S

“…We analyzed 12 families with autosomal dominant early-onset Alzheimer' s disease (EOAD)for mutations in the coding region of the presenilin I (PSNLI) gene…”
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Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families by Cancel, Géraldine, Dürr, Alexandra, Didierjean, Olivier, Imbert, Georges, Bürk, Katrin, Lezin, Agnès, Belal, Samir, Benomar, Ali, Abada-Bendib, Myriem, Vial, Christophe, Guimarães, João, Chneiweiss, Hervé, Stevanin, Giovanni, Yvert, Gael, Abbas, Nacer, Saudou, Frédéric, Lebre, Anne-Sophie, Yahyaoui, Mohamed, Hentati, Fayçal, Vernant, Jean-Claude, Klockgether, Thomas, Mandel, Jean-Louis, Agid, Yves, Brice, Alexis

“…Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. One hundred and eighty four index patients…”
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Apolipoprotein E and Alzheimer disease : Genotype-specific risks by age and sex by BICKEBÖLLER, H, CAMPION, D, DUBOIS, B, LEDOZE, F, THOMAS-ANTERION, C, PASQUIER, F, PUEL, M, DEMONET, J.-F, MOREAUD, O, BABRON, M.-C, MEULIEN, D, GUEZ, D, BRICE, A, CHARTIER-HARLIN, B. M.-C, FREBOURG, T, AGID, Y, MARTINEZ, M, CLERGET-DARPOUX, F, AMOUYEL, P, HANNEQUIN, D, DIDIERJEAN, O, PENET, C, MARTIN, C, PEREZ-TUR, J, MICHON, A

“…The distribution of apolipoprotein E (APOE) genotypes as a function of age and sex has been examined in a French population of 417 Alzheimer disease (AD)…”
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Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease by Cancel, Géraldine, Gourfinkel-An, Isabelle, Stevanin, Giovanni, Didierjean, Olivier, Abbas, Nacer, Hirsch, Etienne, Agid, Yves, Brice, Alexis

“…An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado‐Joseph disease. In…”
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Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias by Stevanin, Giovanni, Trottier, Yvon, Cancel, Géraldine, Dürr, Alexandra, David, Gilles, Didierjean, Olivier, Bürk, Katrin, Imbert, Georges, Saudou, Frederic, Abada-Bendib, Myriem, Gourfinkel-An, Isabelle, Benomar, Ali, Abbas, Nacer, Klockgether, Thomas, Grid, Djamel, Agid, Yves, Mandel, Jean-Louis, Brice, Alexis

“…Expansion of trinucleotide CAG repeats coding for polyglutamine has been implicated in five neurodegenerative disorders, including spinocerebellar ataxia (SCA)…”
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Apolipoprotein E genotype in familial Parkinson’s disease by The, F

“…APOE genotypes were compared in 57 cases of familial Parkinson’s disease, 46 cases of sporadic Parkinson’s disease, and 387 controls. The frequency of the APOE…”
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No effect of the alpha 1-antichymotrypsin A allele in Alzheimer's disease by Didierjean, O, Martinez, M, Campion, D, Hannequin, D, Dubois, B, Martin, C, Puel, M, Anterion, C T., Pasquier, F, Moreau, O, Babron, M C, Penet, C, Agid, Y, Clerget-Darpoux, F, Frebourg, T, Brice, A

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Autosomal dominant cerebellar ataxia type I : Clinical feature and MRI in families with SCA1, SCA2 and SCA3 by BÜRK, K, ABELE, M, FETTER, M, DICHGANS, J, SKALEJ, M, LACCONE, F, DIDIERJEAN, O, BRICE, A, KLOCKGETHER, T

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No effect of the [alpha]1-antichymotrypsin A allele in Alzheimer's disease by Didierjean, O, Martinez, M, Campion, D, Hannequin, D, Dubois, B, Martin, C, Puel, M, Anterion, C Thomas, Pasquier, F, Moreau, O, Babron, M C, Penet, C, Agid, Y, Clerget-Darpoux, F, Frebourg, T, Brice, A

“…The apolipoprotein E (ApoE)-ε4 allele is associated in a dose dependent manner to an increased risk for Alzheimer's disease. However, the ApoE-ε4 allele effect…”
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