日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

全外显子组测序揭示了马里听力障碍的已知基因和候选基因

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

Rare Variants Cause Charcot-Marie-Tooth Disease in Malian Families

罕见变异导致马里家族患上夏科-马里-图斯病

Yalcouyé, Abdoulaye; Cissé, Lassana; Diarra, Salimata; Diallo, Seybou H; Bamba, Salia; Yeetong, Patra; Maiga, Boubacar; Dembélé, Kékouta; Coulibaly, Dramane; Diallo, Salimata; Taméga, Abdoulaye; Maiga, Alassane Baneye; Ba, Hamidou O; Shotelersuk, Vorasuk; Fischbeck, Kenneth H; Guinto, Cheick O; Landouré, Guida

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

RAI1基因中的五核苷酸重复序列插入导致良性成人家族性肌阵挛性癫痫8型

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

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

病例报告:来自马里的三个互不相关的家族中,新的变异导致发育性和癫痫性脑病

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

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy

马里一名患有远端肌病的患者体内发现GNE基因的新变异

Kotioumbe, 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

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

马里夏科-马里-图斯病X连锁1型中的GJB1变异

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

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

马里一个家族中,EYA1基因的单等位基因变异与鳃耳综合征相关

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

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

来自西非马里的一个家庭患有弗里德赖希共济失调症/马里家庭的弗里德赖希共济失调症

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

A novel variant in the spatacsin gene causing SPG11 in a Malian family

马里一个家族中发现导致SPG11的spatacsin基因新变异

Landouré, Guida; Dembélé, Kékouta; Diarra, Salimata; Cissé, Lassana; Samassékou, Oumar; Bocoum, Abdoulaye; Yalcouyé, Abdoulaye; Traoré, Moussa; Fischbeck, Kenneth H; Guinto, Cheick O

Highlights of the issue 6, 2020

2020年第6期亮点

Landouré, Guida; Dembélé, Kékouta; Cissé, Lassana; Samassékou, Oumar; Diarra, Salimata; Bocoum, Abdoulaye; Dembélé, Mohamede E; Fischbeck, Kenneth H; Guinto, Cheick O