Palaima Paulius相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

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

影响因子:2.8

doi:10.3390/genes16060641

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

发表日期：2025

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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

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-020-01654-8

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

发表日期：2021

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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

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-019-1162-x

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

发表日期：2019

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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

影响因子:11.7

doi:10.1093/brain/aww055

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

发表日期：2016

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