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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants

描绘土耳其夏科-马里-图斯病的遗传图谱:独特的分布、罕见表型和新的变异

Cakar, Arman; Candayan, Ayse; Bagırova, Gulandam; Uyguner, Zehra Oya; Ceylaner, Serdar; Durmus, Hacer; Battaloglu, Esra; Parman, Yesim

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13

与肌管蛋白相关蛋白2和13突变相关的夏科-马里-图斯病4B型(CMT4B)的疾病进展

Bertini, Alessandro; Reilly, Mary M; Pisciotta, Chiara; Previtali, Stefano C; Parman, Yesim; Battaloglu, Esra; Laurà, Matilde; Blake, Julian; Sacconi, Sabrina; Attarian, Shahram; Stojkovic, Tanya; Bellatache, Mounia; Nouioua, Sonia; Tazir, Meriem; Cakar, Arman; Gambardella, Antonio; Valentino, Paola; Lewis, Richard A; Horvath, Rita; Zambon, Alberto A; Sabatelli, Mario; Luigetti, Marco; Tozza, Stefano; Manganelli, Fiore; Herrmann, David N; Scherer, Steven S; Kressin, Nicole; Ward, Kailee; Bolino, Alessandra; Shy, Michael E; Pareyson, Davide

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

一项关于与肌管蛋白相关蛋白(MTMRs)突变相关的夏科-马里-图斯病4B型(CMT4B)的多中心回顾性研究

Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M; Leonard-Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello-Palot, Nathalie; Lévy, Nicolas; Sacconi, Sabrina; Guimarães-Costa, Raquel; Attarian, Sharham; Latour, Philippe; Solé, Guilhem; Megarbane, André; Horvath, Rita; Ricci, Giulia; Choi, Byung-Ok; Schenone, Angelo; Gemelli, Chiara; Geroldi, Alessandro; Sabatelli, Mario; Luigetti, Marco; Santoro, Lucio; Manganelli, Fiore; Quattrone, Aldo; Valentino, Paola; Murakami, Tatsufumi; Scherer, Steven S; Dankwa, Lois; Shy, Michael E; Bacon, Chelsea J; Herrmann, David N; Zambon, Alberto; Tramacere, Irene; Pisciotta, Chiara; Magri, Stefania; Previtali, Stefano C; Bolino, Alessandra

SIK2 attenuates proliferation and survival of breast cancer cells with simultaneous perturbation of MAPK and PI3K/Akt pathways

SIK2通过同时扰乱MAPK和PI3K/Akt通路来减弱乳腺癌细胞的增殖和存活。

Zohrap, Neslihan; Saatci, Özge; Ozes, Burcak; Coban, Ipek; Atay, Hasan Murat; Battaloglu, Esra; Şahin, Özgür; Bugra, Kuyas

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

PLA2G6 突变与从神经轴索营养不良到遗传性痉挛性截瘫的连续临床谱相关

Ozes, B; Karagoz, N; Schüle, R; Rebelo, A; Sobrido, M-J; Harmuth, F; Synofzik, M; Pascual, S I P; Colak, M; Ciftci-Kavaklioglu, B; Kara, B; Ordóñez-Ugalde, A; Quintáns, B; Gonzalez, M A; Soysal, A; Zuchner, S; Battaloglu, E

Should CAM and CAM Training Programs Be Included in the Curriculum of Schools That Provide Health Education?

学校提供健康教育的课程是否应该包含补充和替代医学(CAM)及CAM培训项目?

Onal, Ozgur; Sahin, Deniz Say; Inanc, Betul Battaloglu

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

外显子组序列分析表明,遗传负荷会导致表型变异和复杂神经病变。

Gonzaga-Jauregui, Claudia; Harel, Tamar; Gambin, Tomasz; Kousi, Maria; Griffin, Laurie B; Francescatto, Ludmila; Ozes, Burcak; Karaca, Ender; Jhangiani, Shalini N; Bainbridge, Matthew N; Lawson, Kim S; Pehlivan, Davut; Okamoto, Yuji; Withers, Marjorie; Mancias, Pedro; Slavotinek, Anne; Reitnauer, Pamela J; Goksungur, Meryem T; Shy, Michael; Crawford, Thomas O; Koenig, Michel; Willer, Jason; Flores, Brittany N; Pediaditrakis, Igor; Us, Onder; Wiszniewski, Wojciech; Parman, Yesim; Antonellis, Anthony; Muzny, Donna M; Katsanis, Nicholas; Battaloglu, Esra; Boerwinkle, Eric; Gibbs, Richard A; Lupski, James R

Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder

特发性基底神经节钙化伴冲动控制障碍

Sahin, Cem; Levent, Mustafa; Akbaba, Gulhan; Kara, Bilge; Yeniceri, Emine Nese; Inanc, Betul Battaloglu

Coronary Bypass Surgery in Patients with Pulmonary Hypertension: Assessment of Early and Long Term Results

冠状动脉旁路移植术治疗肺动脉高压患者:早期和长期疗效评估

Akca, Baris; Erdil, Nevzat; Disli, Olcay Murat; Donmez, Koksal; Erdil, Feray; Colak, Mehmet Cengiz; Battaloglu, Bektas