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

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

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

马里进行性肌阵挛性癫痫的基因谱分析揭示了新的发现

Cissé, Lassana; Bamba, Salia; Diallo, Seybou H; Ji, Weizhen; Dembélé, Mohamed Emile; Yalcouyé, Abdoulaye; Coulibaly, Toumany; Traoré, Ibrahima; Jeffries, Lauren; Diarra, Salimata; Maiga, Alassane Dit Baneye; Diallo, Salimata; Nimaga, Karamoko; Touré, Amadou; Traoré, Oumou; Kotioumbé, Mahamadou; Mis, Emily Kathryn; Cissé, Cheick Abdel Kader; Guinto, Cheick Oumar; Fischbeck, Kenneth H; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy

脊髓延髓肌萎缩症症状的患者报告影响

Alqahtani, Abdullah; Kokkinis, Angela; Zizzi, Christine; Dilek, Nuran; Fischbeck, Kenneth H; Heatwole, Chad R; Grunseich, Christopher

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

Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration

非酒精性脂肪肝病合并遗传性和散发性运动神经元变性

Johnson, Brian; Kokkinis, Angela; Gai, Neville; Shamim, Ejaz A; Blackstone, Craig; Fischbeck, Kenneth H; Grunseich, Christopher

SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT

脊髓延髓肌萎缩症患者力量训练的安全性和耐受性:病例报告

Shieh, Vincent; Zampieri, Cris; Stout, Paul; Joe, Galen O; Kokkinis, Angela; Fischbeck, Kenneth H; Grunseich, Christopher; Shrader, Joseph A

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

提高四级转诊中心外显子组测序的效率:罕见神经遗传疾病的新突变、临床表现和诊断挑战

Grunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A; Sumner, Charlotte J; Roda, Ricardo H; Chaudhry, Vinay; Lloyd, Thomas E; Crawford, Thomas O; Subramony, S H; Oh, Shin J; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y; Fischbeck, Kenneth H; Mankodi, Ami

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