Found: 10

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  • GJB1 variants in Charcot‐Marie‐Tooth disease X‐linked type 1 in Mali.

    Published in:
    Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 113, doi. 10.1111/jns.12486
    By:
    • Yalcouyé, Abdoulaye;
    • Diallo, Seybou H.;
    • Cissé, Lassana;
    • Karembé, Mamadou;
    • Diallo, Salimata;
    • Coulibaly, Thomas;
    • Diarra, Salimata;
    • Coulibaly, Dramane;
    • Keita, Mohamed;
    • Guinto, Cheick O.;
    • Fischbeck, Kenneth H.;
    • Wonkam, Ambroise;
    • Landouré, Guida
    Publication type:
    Article

  • Hereditary spastic paraplegia in Mali: epidemiological and clinical features.

    Published in:
    Acta Neurologica Belgica, 2023, v. 123, n. 6, p. 2155, doi. 10.1007/s13760-022-02113-w
    By:
    • Diarra, Salimata;
    • Coulibaly, Thomas;
    • Dembélé, Kékouta;
    • Ngouth, Nyater;
    • Cissé, Lassana;
    • Diallo, Seybou H.;
    • Ouologuem, Madani;
    • Diallo, Salimata;
    • Coulibaly, Oumar;
    • Bagayoko, Koumba;
    • Coulibaly, Dramane;
    • Simaga, Assiatou;
    • Sango, Hammadoun A.;
    • Traoré, Mahamadou;
    • Jacobson, Steve;
    • Fischbeck, Kenneth H.;
    • Landouré, Guida;
    • Guinto, Cheick O.
    Publication type:
    Article

  • A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

    Published in:
    Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 272, doi. 10.1002/acn3.402
    By:
    • Guinto, Cheick O.;
    • Diarra, Salimata;
    • Diallo, Salimata;
    • Cissé, Lassana;
    • Coulibaly, Thomas;
    • Diallo, Seybou H.;
    • Taméga, Abdoulaye;
    • Chen, Ke‐Lian;
    • Schindler, Alice B.;
    • Bagayoko, Koumba;
    • Simaga, Assiatou;
    • Blackstone, Craig;
    • Fischbeck, Kenneth H.;
    • Landouré, Guida
    Publication type:
    Article

  • A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.

    Published in:
    2024
    By:
    • Cissé, Lassana;
    • Yalcouyé, Abdoulaye;
    • Touré, Kadidia Oumar;
    • Coulibaly, Youlouza;
    • Maiga, Alassane Baneye;
    • Bamba, Salia;
    • Diallo, Dramane;
    • Diarra, Salimata;
    • Taméga, Abdoulaye;
    • Traoré, Oumou;
    • Kotioumbé, Mahamadou;
    • Sangaré, Moussa Aly;
    • Ba, Hamidou Oumar;
    • Simaga, Assiatou;
    • Koné, Fatogoma Issa;
    • Samassekou, Oumar;
    • Koné, Amadou;
    • Guinto, Cheick Oumar;
    • Landouré, Guida
    Publication type:
    Case Study

  • Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.

    Published in:
    Clinical Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/ccr3.4065
    By:
    • Cissé, Cheick A. K.;
    • Cissé, Lassana;
    • Ba, Hamidou O.;
    • Samassékou, Oumar;
    • Simaga, Assiatou;
    • Taméga, Abdoulaye;
    • Diarra, Salimata;
    • Diallo, Seybou H.;
    • Coulibaly, Thomas;
    • Diallo, Salimata;
    • Yalcouyé, Abdoulaye;
    • Maiga, Alassane B.;
    • Keita, Mohamed;
    • Fischbeck, Kenneth H.;
    • Traoré, Sékou F.;
    • Guinto, Cheick O.;
    • Landouré, Guida
    Publication type:
    Article

  • Novel variant in CADM3 causes Charcot-Marie-Tooth disease.

    Published in:
    Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad227
    By:
    • Yalcouyé, Abdoulaye;
    • Rebelo, Adriana P.;
    • Cissé, Lassana;
    • Rives, Lynette;
    • Bamba, Salia;
    • Cogan, Joy;
    • Esoh, Kevin;
    • Diarra, Salimata;
    • Ezell, Kimberly M.;
    • Taméga, Abdoulaye;
    • Guinto, Cheick O.;
    • Dohrn, Maike F.;
    • Hamid, Rizwan;
    • Fischbeck, Kenneth H.;
    • Zuchner, Stephan;
    • Landouré, Guida
    Publication type:
    Article

  • Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

    Published in:
    Movement Disorders, 2024, v. 39, n. 1, p. 164, doi. 10.1002/mds.29654
    By:
    • Yeetong, Patra;
    • Dembélé, Mohamed E.;
    • Pongpanich, Monnat;
    • Cissé, Lassana;
    • Srichomthong, Chalurmpon;
    • Maiga, Alassane B.;
    • Dembélé, Kékouta;
    • Assawapitaksakul, Adjima;
    • Bamba, Salia;
    • Yalcouyé, Abdoulaye;
    • Diarra, Salimata;
    • Mefoung, Samuel Ephrata;
    • Rakwongkhachon, Supphakorn;
    • Traoré, Oumou;
    • Tongkobpetch, Siraprapa;
    • Fischbeck, Kenneth H.;
    • Gahl, William A.;
    • Guinto, Cheick O.;
    • Shotelersuk, Vorasuk;
    • Landouré, Guida
    Publication type:
    Article

  • Hereditary spastic paraplegia type 35 in a family from Mali.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1122, doi. 10.1002/ajmg.a.61179
    By:
    • Landouré, Guida;
    • Dembélé, Kékouta;
    • Cissé, Lassana;
    • Samassékou, Oumar;
    • Diarra, Salimata;
    • Bocoum, Abdoulaye;
    • Dembélé, Mohamede E.;
    • Fischbeck, Kenneth H.;
    • Guinto, Cheick O.
    Publication type:
    Article

  • A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family.

    Published in:
    2022
    By:
    • Yalcouyé, Abdoulaye;
    • Traoré, Oumou;
    • Diarra, Salimata;
    • Schrauwen, Isabelle;
    • Esoh, Kevin;
    • Kadlubowska, Magda Kamila;
    • Bharadwaj, Thashi;
    • Adadey, Samuel Mawuli;
    • Kéita, Mohamed;
    • Guinto, Cheick O.;
    • Leal, Suzanne M.;
    • Landouré, Guida;
    • Wonkam, Ambroise
    Publication type:
    Case Study

  • A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.782
    By:
    • Yalcouyé, Abdoulaye;
    • Diallo, Seybou H.;
    • Coulibaly, Thomas;
    • Cissé, Lassana;
    • Diallo, Salimata;
    • Samassékou, Oumar;
    • Diarra, Salimata;
    • Coulibaly, Dramane;
    • Keita, Mohamed;
    • Guinto, Cheick O.;
    • Fischbeck, Kenneth;
    • Landouré, Guida
    Publication type:
    Article