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

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

LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond

LRSAM1 和 RING 结构域:夏科-马里-图斯病及其他

Palaima, Paulius; Berciano, José; Peeters, Kristien; Jordanova, Albena

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

周围髓鞘蛋白 2 - 导致夏科-马里-图斯神经病的新型突变簇

Palaima Paulius, Chamova Teodora, Jander Sebastian, Mitev Vanyo, Van Broeckhoven Christine, Tournev Ivailo, Peeters Kristien, 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

Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1

2G 型腓骨肌萎缩症因 LRSAM1 基因新突变被重新定义

Kristien Peeters, Paulius Palaima, Ana L Pelayo-Negro, Antonio García, Elena Gallardo, Rosario García-Barredo, Ligia Mateiu, Jonathan Baets, Björn Menten, Els De Vriendt, Peter De Jonghe, Vincent Timmerman, Jon Infante, José Berciano, Albena Jordanova

New 1-(3-nitrophenyl)-5,6-dihydro-4H-[1,2,4]triazolo[4,3-a][1,5]benzodiazepines: synthesis and computational study

新型1-(3-硝基苯基)-5,6-二氢-4H-[1,2,4]三唑并[4,3-a][1,5]苯并二氮杂卓:合成与计算研究

Kosychova, Lidija; Karalius, Antanas; Staniulytė, Zita; Sirutkaitis, Romualdas Aleksas; Palaima, Algirdas; Laurynėnas, Audrius; Anusevičius, Žilvinas

Comparison of methods for profiling O-glycosylation: Human Proteome Organisation Human Disease Glycomics/Proteome Initiative multi-institutional study of IgA1

O-糖基化分析方法比较:人类蛋白质组组织、人类疾病糖组学/蛋白质组学计划、IgA1多机构研究

Wada, Yoshinao; Dell, Anne; Haslam, Stuart M; Tissot, Bérangère; Canis, Kévin; Azadi, Parastoo; Bäckström, Malin; Costello, Catherine E; Hansson, Gunnar C; Hiki, Yoshiyuki; Ishihara, Mayumi; Ito, Hiromi; Kakehi, Kazuaki; Karlsson, Niclas; Hayes, Catherine E; Kato, Koichi; Kawasaki, Nana; Khoo, Kay-Hooi; Kobayashi, Kunihiko; Kolarich, Daniel; Kondo, Akihiro; Lebrilla, Carlito; Nakano, Miyako; Narimatsu, Hisashi; Novak, Jan; Novotny, Milos V; Ohno, Erina; Packer, Nicolle H; Palaima, Elizabeth; Renfrow, Matthew B; Tajiri, Michiko; Thomsson, Kristina A; Yagi, Hirokazu; Yu, Shin-Yi; Taniguchi, Naoyuki

The Caenorhabditis elegans bus-2 mutant reveals a new class of O-glycans affecting bacterial resistance

秀丽隐杆线虫 bus-2 突变体揭示了一类影响细菌耐药性的新型 O-聚糖

Elizabeth Palaima, Nancy Leymarie, Dave Stroud, Rahman M Mizanur, Jonathan Hodgkin, Maria J Gravato-Nobre, Catherine E Costello, John F Cipollo