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

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

COX18 的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte Camila, Morant Laura, Adant Isabelle, Hamed Sherifa A, Pipis Menelaos, Efthymiou Stephanie, Amor-Barris Silvia, Atkinson Derek, Van de Vondel Liedewei, Tomic Aleksandra, Seneca Sara, de Vriendt Els, Zuchner Stephan, Ghesquiere Bart, Hanna Michael G, Houlden Henry, Lunn Michael P, Reilly Mary M, Milic Rasic Vedrana, Jordanova Albena

Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model: identifying early biomarkers for functional and structural brain changes

利用KCNQ2发育性和癫痫性脑病小鼠模型进行脑发育成像:识别功能性和结构性脑变化的早期生物标志物

Millevert, Charissa; Vidas-Guscic, Nicholas; Adhikari, Mohit H; Miranda, Alan; Vanherp, Liesbeth; Villard, Laurent; Jonckers, Elisabeth; Joye, Philippe; Van Audekerke, Johan; Van Spilbeeck, Ignace; De Vriendt, Els; Verhoye, Marleen; Staelens, Steven; Bertoglio, Daniele; Weckhuysen, Sarah

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria

NDRG1基因中新型创始突变的鉴定和表征:完善保加利亚夏科-马里-图斯病4D型的遗传图谱

Atkinson, Derek; Chamova, Teodora; Candayan, Ayse; Kastreva, Kristina; Asenov, Ognian; Litvinenko, Ivan; Estrada-Cuzcano, Alejandro; De Vriendt, Els; Kukushev, Georgi; Tournev, Ivailo; Jordanova, Albena

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

COX18基因的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa Ahmed; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael; Houlden, Henry; Lunn, Michael P; Reilly, Mary M; Rasic, Vedrana Milic; Jordanova, Albena

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia

塞尔维亚成年遗传性痉挛性截瘫患者的表型和遗传异质性

Perić, Stojan; Marković, Vladana; Candayan, Ayşe; De Vriendt, Els; Momčilović, Nikola; Savić, Andrija; Dragašević-Mišković, Nataša; Svetel, Marina; Stević, Zorica; Božović, Ivo; Mesaroš, Šarlota; Drulović, Jelena; Basta, Ivana; Petrović, Igor; Tamaš, Olivera; Mijajlović, Milija; Novaković, Ivana; Sokić, Dragoslav; Jordanova, Albena

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

南美洲一例由HINT1基因突变引起的轴突神经病伴神经肌强直:病例报告

de Aguiar Coelho Silva Madeiro, Bianca; Peeters, Kristien; Santos de Lima, Elker Lene; Amor-Barris, Silvia; De Vriendt, Els; Jordanova, Albena; Cartaxo Muniz, Maria Tereza; da Cunha Correia, Carolina

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

鞘氨醇-1-磷酸裂解酶缺乏症会导致夏科-马里-图斯神经病

Atkinson Derek, Nikodinovic Glumac Jelena, Asselbergh Bob, Ermanoska Biljana, Blocquel David, Steiner Regula, Estrada-Cuzcano Alejandro, Peeters Kristien, Ooms Tinne, De Vriendt Els, Yang Xiang-Lei, Hornemann Thorsten, Milic Rasic Vedrana, Jordanova Albena

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

型夏科-马里-图斯病家族中的新生 PMP2 突变

Motley, William W; Palaima, Paulius; Yum, Sabrina W; Gonzalez, Michael A; Tao, Feifei; Wanschitz, Julia V; Strickland, Alleene V; Löscher, Wolfgang N; De Vriendt, Els; Koppi, Stefan; Medne, Livija; Janecke, Andreas R; Jordanova, Albena; Zuchner, Stephan; Scherer, Steven S

A novel AARS mutation in a family with dominant myeloneuropathy

一家族性显性脊髓神经病中发现新的AARS基因突变

Motley, William W; Griffin, Laurie B; Mademan, Inès; Baets, Jonathan; De Vriendt, Els; De Jonghe, Peter; Antonellis, Anthony; Jordanova, Albena; Scherer, Steven S

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

利用纯合性作图方法揭示常染色体隐性遗传性夏科-马里-图斯神经病的遗传图谱

Zimoń, Magdalena; Battaloğlu, Esra; Parman, Yesim; Erdem, Sevim; Baets, Jonathan; De Vriendt, Els; Atkinson, Derek; Almeida-Souza, Leonardo; Deconinck, Tine; Ozes, Burcak; Goossens, Dirk; Cirak, Sebahattin; Van Damme, Philip; Shboul, Mohammad; Voit, Thomas; Van Maldergem, Lionel; Dan, Bernard; El-Khateeb, Mohammed S; Guergueltcheva, Velina; Lopez-Laso, Eduardo; Goemans, Nathalie; Masri, Amira; Züchner, Stephan; Timmerman, Vincent; Topaloğlu, Haluk; De Jonghe, Peter; Jordanova, Albena