Search Results - "M’zahem, A"

Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients by Tazir, M, Ali-Pacha, L, M'Zahem, A, Delaunoy, J.P, Fritsch, M, Nouioua, S, Benhassine, T, Assami, S, Grid, D, Vallat, J.M, Hamri, A, Koenig, M

“…Abstract Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the…”
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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.

“…The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically…”
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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.

“…Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia…”
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Limbic encephalitis associated with glutamic acid decarboxylase antibodies in a young adolescent by M’zahem, A., Meziani, A., Taghane, N., Boulefkhad, A., Khellaf, S., Hamri, A.

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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.

“…Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing…”
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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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Limbic encephalitis associated with glutamic acid decarboxylase antibodies in a young adolescent by M'zahem, A, Meziani, A, Taghane, N, Boulefkhad, A, Khellaf, S, Hamri, A

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Syndrome de la personne raide associé a un cancer du sein : à propos d’un cas by Semra, H., Chehad, N.E.H., Serradj, F., Boulefkhad, A., Sifi, Y., M’zahem, A., Hamri, A.

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M - 13 Ataxies cérébelleuses autosomiques récessives by M’zahem, A., Fekraoui, A., Bouarroudj, S., Sifi, Y., Koenig, M., Hamri, A.

“…Les ataxies cérébelleuses autosomiques récessives sont des affections neuro-dégénératives caractérisées par une grande hétérogénéité clinique et génétique. Le…”
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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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Diversity and Geographical Distribution of Sand Flies Phlebotomus papatasi (Diptera: Phlebotominae) by using Geometric Morphometric Technique from two Iraqi Provinces by Abd, Sahar Abd, Okail, Riyadh, Kathiar, Soolaf A., Mzahem, Nawras

“…            The variation in wing morphological features was investigated using geometric morphometric technique of the Sand Fly from two Iraqi provinces…”
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