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

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

CPT1C功能缺失变异:不支持其在遗传性痉挛性截瘫中起因果作用

Zhu, Rui; Liu, Lang; Estiar, Mehrdad A; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Yoon, Grace; Tarnopolsky, Mark; Boycott, Kym M; Dupre, Nicolas; Dion, Patrick A; Suchowersky, Oksana; Jordanova, Albena; Lee, Yi-Chung; Stevanin, Giovanni; Zuchner, Stephan; Rouleau, Guy A; Gan-Or, Ziv

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Molecular Mechanisms of Action of Dendrimers with Antibacterial Activities on Model Lipid Membranes

树状聚合物对模型脂质膜抗菌活性的分子作用机制

Jordanova, Albena; Tsanova, Asya; Stoimenova, Emilia; Minkov, Ivan; Kostadinova, Aneliya; Hazarosova, Rusina; Angelova, Ralitsa; Antonova, Krassimira; Vitkova, Victoria; Staneva, Galya; Grabchev, Ivo

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

儿童期发病的TUBB4A相关脑白质营养不良症不同亚型的自然病程

Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Geneviève; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I; van der Knaap, Marjo S; Shults, Justine; Adang, Laura A; Vanderver, Adeline L

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority

保加利亚宗教少数群体中表现为震颤-肌张力障碍综合征的变异型毛细血管扩张性共济失调

Chamova, Teodora; Todorov, Tihomir; Palaima, Paulius; Yankova, Petya; Pacheva, Iliyana; Ivanov, Ivan; Georgieva, Bilyana; Cherninkova, Sylvia; Savov, Alexey; Zlatareva, Dora; Naumova, Elisaveta; Todorova, Albena; Jordanova, Albena; Tournev, Ivailo

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.

人类 P4-ATP 酶的出口位点控制底物特异性,神经系统疾病中的新生点突变揭示了这一点

Calianese David C, Noji Tomoyasu, Sullivan Jennifer A, Schoch Kelly, Shashi Vandana, McNiven Vanda, Ramos Luiza Lorena Pires, Jordanova Albena, Kárteszi Judit, Ishikita Hiroshi, Nagata Shigekazu

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

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

一项针对常染色体隐性遗传周围神经病病例的遗传调查揭示了土耳其人群中存在高度遗传异质性

Candayan, Ayşe; Çakar, Arman; Yunisova, Gulshan; Özdağ Acarlı, Ayşe Nur; Atkinson, Derek; Topaloğlu, Pınar; Durmuş, Hacer; Yapıcı, Zuhal; Jordanova, Albena; Parman, Yeşim; Battaloğlu, Esra