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

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Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali von Bamba, Salia, Sidibé, Lala, Diallo, Seybou H, Cissé, Lassana, Dembélé, Kékouta, Yalcouyé, Abdoulaye, Ji, Weizhen, Dembélé, Mohamed Emile, Diarra, Salimata, Maiga, Alassane Dit Baneye, Traoré, Oumou, Diallo, Salimata, Mefoung, Samuel Ephrata, Touré, Amadou, Koné, Adama, Jeffries, Lauren, Guinto, Cheick O, Mis, Emily K, Fischbeck, Kenneth H, Khokha, Mustafa K, Lakhani, Saquib A, Landouré, Guida

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Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali von Yalcouyé, Abdoulaye, Schrauwen, Isabelle, Traoré, Oumou, Bamba, Salia, Aboagye, Elvis Twumasi, Acharya, Anushree, Bharadwaj, Thashi, Latanich, Rachel, Esoh, Kevin, Fortes-Lima, Cesar A., de Kock, Carmen, Jonas, Mario, Maiga, Alassane dit Baneye, Cissé, Cheick A.K., Sangaré, Moussa A., Guinto, Cheick O., Landouré, Guida, Leal, Suzanne M., Wonkam, Ambroise

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

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

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

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AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia von Diarra, Salimata, Ghosh, Saikat, Cissé, Lassana, Coulibaly, Thomas, Yalcouyé, Abdoulaye, Harmison, George, Diallo, Salimata, Diallo, Seybou H., Coulibaly, Oumar, Schindler, Alice, Cissé, Cheick A.K., Maiga, Alassane B., Bamba, Salia, Samassekou, Oumar, Khokha, Mustafa K., Mis, Emily K., Lakhani, Saquib A., Donovan, Frank X., Jacobson, Steve, Blackstone, Craig, Guinto, Cheick O., Landouré, Guida, Bonifacino, Juan S., Fischbeck, Kenneth H., Grunseich, Christopher

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A novel variant in the GNE gene in a Malian patient presenting with distal myopathy von Kotioumbé, Mahamadou, Maiga, Alassane B., Bamba, Salia, Cissé, Lassana, Diarra, Salimata, Diallo, Salimata, Yalcouyé, Abdoulaye, Kané, Fousseyni, Diallo, Seybou H., Coulibaly, Dramane, Coulibaly, Thomas, Dembélé, Kékouta, Maiga, Boubacar, Guinto, Cheick O., Landouré, Guida

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A novel variant in the spatacsin gene causing SPG11 in a Malian family von Landouré, Guida, Dembélé, Kékouta, Diarra, Salimata, Cissé, Lassana, Samassékou, Oumar, Bocoum, Abdoulaye, Yalcouyé, Abdoulaye, Traoré, Moussa, Fischbeck, Kenneth H., Guinto, Cheick O.

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

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Hereditary spastic paraplegia type 35 in a family from Mali von Landouré, Guida, Dembélé, Kékouta, Cissé, Lassana, Samassékou, Oumar, Diarra, Salimata, Bocoum, Abdoulaye, Dembélé, Mohamede E., Fischbeck, Kenneth H., Guinto, Cheick O.

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

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Socio-cultural adaptation and standardization of Dubois' five words testing in a population of normal subject in Mali, West Africa von Guinto, Cheick O., Coulibaly, Toumany, Koné, Zeinab, Coulibaly, Souleymane, Maiga, Boubacar, Dembélé, Kekouta, Cissé, Lassana, Konaté, Mamadou, Coulibaly, Thomas, Sissoko, Adama S., Karambé, Mamadou, Burnett, Barrington, Landouré, Guida, Traoré, Moussa

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Novel variant in CADM3 causes Charcot–Marie–Tooth disease von 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

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Fahr's syndrome with hyperparathyroidism revealed by seizures and proximal weakness von Dembélé, Kékouta, Cissé, Lassana, Djimdé, Samba, Coulibaly, Youlouza, Diarra, Salimata, Yalcouyé, Abdoulaye, Maiga, Boubacar, Guinto, Cheick O., Landouré, Guida

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Neuropsychiatric and socio-cultural aspects in a Malian family with spinocerebellar ataxia von Coulibaly, Souleymane P, Coulibaly, Souleymane, Sango, Hammadoun A, Cissé, Lassana, Maïga, Fatoumata I, Maïga, Boubacar, Diarra, Salimata, Diallo, Seybou H, Coulibaly, Thomas, Traoré, Mahamadou, Guinto, Cheick O, Koumaré, Baba, Landouré, Guida

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Neurological Complications in Subjects With Sickle Cell Disease or Trait: Genetic Results From Mali von Landouré, Guida, Cissé, Lassana, Touré, Boubacar A, Yalcouyé, Abdoulaye, Coulibaly, Toumany, Karambé, Mamadou, Sissoko, Adama S, Coulibaly, Thomas, Wonkam, Ambroise, Guinto, Cheick O

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Neurological Complications in Subjects With Sickle Cell Disease or Trait von Landouré, Guida, Cissé, Lassana, Touré, Boubacar A, Yalcouyé, Abdoulaye, Coulibaly, Toumany, Karambé, Mamadou, Sissoko, Adama S, Coulibaly, Thomas, Wonkam, Ambroise, Guinto, Cheick O

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Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia von Landouré, Guida, Mochel, Fanny, Meilleur, Katherine, Ly, Madani, Sangaré, Modibo, Bocoum, Nouhoum, Bagayoko, Koumba, Coulibaly, Thomas, Sarr, Amadou M., Bâ, Hamidou O., Coulibaly, Souleymane, Guinto, Cheick O., Touré, Mahamadou, Traoré, Moussa, Fischbeck, Kenneth H.

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

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