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

Scale for the assessment and rating of ataxia: a live e-version

共济失调评估和评级量表:实时电子版

Algon, Avigail Lithwick; Ponger, Penina; Daniel, Leonardo; De Picciotto, Yael; Gazit, Eran; Brozgol, Marina; Hausdorff, Jeffrey M; Saban, William

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic

单中心神经遗传诊所罕见运动障碍患者的高基因诊断率

Penn, Dvir; Amir, Yam; David, Gil Ben; Kurolap, Alina; Barel, Dalit; Hamiel, Uri; Bach, Michal; Elhanan, Emil; Barkan, Tali; Marom, Daphna; Mory, Adi; Simantov, Noga; Eshed, Gadi Maayan; Faust-Socher, Achinoam; Livneh, Vered; Thaler, Avner; Omer, Nurit; Shiner, Tamara; Giladi, Nir; Gurevich, Tanya; Feldman, Hagit Baris; Alcalay, Roy N; Yaron, Yuval; Ponger, Penina

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

对 ITPR1 错义变异的详细分析指导诊断和治疗方案设计

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H

Corrigendum: Remote assessment of cognition in Parkinson's disease and cerebellar ataxia: the MoCA test in English and Hebrew

更正:帕金森病和小脑共济失调患者认知功能的远程评估:英语和希伯来语版 MoCA 测试

Binoy, Sharon; Montaser-Kouhsari, Leila; Ponger, Penina; Saban, William

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

非扩张型脊髓小脑性共济失调的表型异质性极高

Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra

Remote assessment of cognition in Parkinson's disease and Cerebellar Ataxia: the MoCA test in English and Hebrew

帕金森病和小脑共济失调患者认知功能的远程评估:英语和希伯来语版 MoCA 测试

Binoy, Sharon; Montaser-Kouhsari, Leila; Ponger, Penina; Saban, William

DNA methylome combined with chromosome cluster-oriented analysis provides an early signature for cutaneous melanoma aggressiveness

DNA 甲基化组与染色体簇导向分析相结合,为皮肤黑色素瘤的侵袭性提供了早期特征

Arnaud Carrier, Cécile Desjobert, Loic Ponger, Laurence Lamant, Matias Bustos, Jorge Torres-Ferreira, Rui Henrique, Carmen Jeronimo, Luisa Lanfrancone, Audrey Delmas, Gilles Favre, Antoine Daunay, Florence Busato, Dave S B Hoon, Jorg Tost, Chantal Etievant, Joëlle Riond, Paola B Arimondo

Marine gregarine genomes reveal the breadth of apicomplexan diversity with a partially conserved glideosome machinery

海洋格氏虫基因组揭示了顶复门动物多样性的广度,以及部分保守的滑行体机制。

Boisard, Julie; Duvernois-Berthet, Evelyne; Duval, Linda; Schrével, Joseph; Guillou, Laure; Labat, Amandine; Le Panse, Sophie; Prensier, Gérard; Ponger, Loïc; Florent, Isabelle

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

COL4A2基因缺失与三代可变表型相关:从胎儿期到成人期均有表现。

Hausman-Kedem, Moran; Ben-Sira, Liat; Kidron, Debora; Ben-Shachar, Shay; Straussberg, Rachel; Marom, Daphna; Ponger, Penina; Bar-Shira, Anat; Malinger, Gustavo; Fattal-Valevski, Aviva

The Targeted Sequencing of Alpha Satellite DNA in Cercopithecus pogonias Provides New Insight Into the Diversity and Dynamics of Centromeric Repeats in Old World Monkeys

对长尾猴(Cercopithecus pogonias)α卫星DNA进行靶向测序,为了解旧世界猴着丝粒重复序列的多样性和动态性提供了新的见解

Cacheux, Lauriane; Ponger, Loïc; Gerbault-Seureau, Michèle; Loll, François; Gey, Delphine; Richard, Florence Anne; Escudé, Christophe