Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia by Delamarre, A., Chelly, J., Guehl, D., Drouot, N., Tranchant, C., Anheim, M., Burbaud, P.

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Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome by Guissart, Claire, Li, Xiuju, Leheup, Bruno, Drouot, Nathalie, Montaut-Verient, Bettina, Raffo, Emmanuel, Jonveaux, Philippe, Roux, Anne-Françoise, Claustres, Mireille, Fliegel, Larry, Koenig, Michel

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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients by Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Fritsch, M., Arning, L., Synofzik, M., Schöls, L., Sequeiros, J., Goizet, C., Marelli, C., Le Ber, I., Koht, J., Gazulla, J., De Bleecker, J., Mukhtar, M., Drouot, N., Ali-Pacha, L., Benhassine, T., Chbicheb, M., M’Zahem, A., Hamri, A., Chabrol, B., Pouget, J., Murphy, R., Watanabe, M., Coutinho, P., Tazir, M., Durr, A., Brice, A., Tranchant, C., Koenig, M.

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Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France:... by Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M.

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The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization by Assoum, M., Salih, M. A., Drouot, N., Hnia, K., Martelli, A., Koenig, M.

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A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23 by Gribaa, M., Salih, M., Anheim, M., Lagier-Tourenne, C., H'mida, D., Drouot, N., Mohamed, A., Elmalik, S., Kabiraj, M., Al-Rayess, M., Almubarak, M., Bétard, C., Goebel, H., Koenig, M.

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Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays by H’mida-Ben Brahim, D., M’zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N’Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R., Santorelli, F. M., Tazir, M., Koenig, M.

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

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Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia by Renaud, Mathilde, Guissart, Claire, Mallaret, Martial, Ferdinandusse, Sacha, Cheillan, David, Drouot, Nathalie, Muller, Jean, Claustres, Mireille, Tranchant, Christine, Anheim, Mathieu, Koenig, Michel

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O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease by Bindoff, L.A, Fiskerstrand, T, Brahim, D. H’mida-Ben, Johansson, S, M’zahem, A, Haukanes, B.I, Drouot, N, Zimmermann, J, Cole, A.J, Vedeler, C, Bredrup, C, Assoum, M, Tazir, M, Klockgether, T, Hamri, A, Steen, V.M, Boman, H, Koenig, M, Knappskog, P.M

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Paraparésie spastique héréditaire à phénotype complexe avec mutation dans le gène FA2H : description de 5 cas by Marelli, C., Salih, M. Ma, Nguyen, K., Mallaret, M., Drouot, N., Labauge, P., Koenig, M.

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Le gène suppresseur de tumeur WW oxidoréductase (WWOX) est muté dans une forme d’ataxie cérébelleuse avec épilepsie et retard mental by Mallaret, M., Drouot, N., Renaud, M., Klein, F., Anheim, M., Salih, M., Koenig, M.

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Capture ciblée d’exons de gènes d’ataxie couplée au séquençage à haut débit by Renaud, M., Mallaret, M., Drouot, N., Mandel, J.-L., Anheim, M., Tranchant, C., Koenig, M.

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Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method by SAUGIER-VEBER, Pascale, DROUOT, Nathalie, LEFEBVRE, Suzie, CHARBONNIER, Francoise, VIAL, Elodie, MUNNICH, Arnold, FREBOURG, Thierry

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A comprehensive genetic map of the human genome based on 5,264 microsatellites by Dib, Colette, Fauré, Sabine, Fizames, Cécile, Samson, Delphine, Drouot, Nathalie, Vignal, Alain, Millasseau, Philippe, Marc, Sophie, Kazan, Jamile, Seboun, Eric, Lathrop, Mark, Gyapay, Gabor, Morissette, Jean, Weissenbach, Jean

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A Physical Map of 30,000 Human Genes by Deloukas, P., Schuler, G. D., Gyapay, G., Beasley, E. M., Soderlund, C., Rodriguez-Tomé, P., Hui, L., Matise, T. C., McKusick, K. B., Beckmann, J. S., Bentolila, S., M.-T. Bihoreau, Birren, B. B., Browne, J., Butler, A., Castle, A. B., Chiannilkulchai, N., Clee, C., Day, P. J. R., Dehejia, A., Dibling, T., Drouot, N., Duprat, S., Fizames, C., Fox, S., Gelling, S., Green, L., Harrison, P., Hocking, R., Holloway, E., Hunt, S., Keil, S., Lijnzaad, P., C. Louis-Dit-Sully, Ma, J., Mendis, A., Miller, J., Morissette, J., Muselet, D., Nusbaum, H. C., Peck, A., Rozen, S., Simon, D., Slonim, D. K., Staples, R., Stein, L. D., Stewart, E. A., Suchard, M. A., Thangarajah, T., Vega-Czarny, N., Webber, C., Wu, X., Hudson, J., Auffray, C., Nomura, N., Sikela, J. M., Polymeropoulous, M. H., James, M. R., Lander, E. S., Hudson, T. J., Myers, R. M., Cox, D. R., Weissenbach, J., Boguski, M. S., Bentley, D. R.

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Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short f... by CHARBONNIER, F, RAUX, G, QING WANG, DROUOT, N, CORDIER, F, LIMACHER, J.-M, SAURIN, J.-C, PUISIEUX, A, OLSCHWANG, S, FREBOURG, T

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Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children by Bougeard, Gaëlle, Charbonnier, Françoise, Moerman, Alexandre, Martin, Cosette, Ruchoux, Marie M., Drouot, Nathalie, Frébourg, Thierry

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A Gene Map of the Human Genome by Schuler, G. D., Boguski, M. S., Stewart, E. A., Stein, L. D., Gyapay, G., Rice, K., White, R. E., Rodriguez-Tomé, P., Aggarwal, A., Bajorek, E., Bentolila, S., Birren, B. B., Butler, A., Chiannilkulchai, N., Chu, A., Clee, C., Cowles, S., Day, P. J. R., Dibling, T., Drouot, N., Dunham, I., Duprat, S., East, C., Edwards, C., J.-B. Fan, Fang, N., Fizames, C., Garrett, C., Green, L., Hadley, D., Harris, M., Brady, S., Hicks, A., Holloway, E., Hui, L., Hussain, S., C. Louis-Dit-Sully, Ma, J., MacGilvery, A., Mader, C., Maratukulam, A., Matise, T. C., McKusick, K. B., Mungall, A., Muselet, D., Nusbaum, H. C., Page, D. C., Peck, A., Perkins, S., Piercy, M., Qin, F., Quackenbush, J., Ranby, S., Reif, T., Rozen, S., Sanders, C., She, X., Silva, J., Slonim, D. K., Soderlund, C., W.-L. Sun, Tabar, P., Thangarajah, T., Vega-Czarny, N., Vollrath, D., Voyticky, S., Wilmer, T., Wu, X., Adams, M. D., Aufiray, C., Walter, N. A. R., Brandon, R., Dehejia, A., Goodfellow, P. N., Houlgatte, R., Hudson, J. R., Ide, S. E., Iorio, K. R., Lee, W. Y., Seki, N., Nagase, T., Ishikawa, K., Nomura, N., Phillips, C., Polymeropoulos, M. H., Sandusky, M., Schmitt, K., Berry, R., Swanson, K., Torres, R., Venter, J. C., Sikela, J. M., Weissenbach, J., Myers, R. M., Cox, D. R., James, M. R., Bentley, D., Deloukas, P., Lander, E. S., Hudson, T. J.

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Ataxie avec apraxie oculomotrice de type 2 (AOA2) : étude clinique, biologique et corrélation génotype/phénotype d’une cohorte de 90 patients by Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J.-P., Fritsch, M., Arning, L., Synofzik, M., Schöls, L., Sequeiros, J., Goizet, C., Marelli, C., Le Ber, I., Koht, J., Gazulla, J., De Bleecker, J., Mukhtar, M., Drouot, N., Ali-Pacha, L., Benhassine, T., Chbiche, M., M’zahem, A., Hamri, A., Chabrol, B., Pouget, J., Murphy, R., Watanabe, M., Coutinho, P., Tazir, M., Durr, A., Brice, A., Tranchant, C., Koenig, M.

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