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

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

Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis

保加利亚一名遗传性转甲状腺素蛋白淀粉样变性患者的TTR基因中发现一种新的致病变异c.258A>C,p.(Glu86Asp)。

Pavlova, Zornitsa; Zhelyazkova, Sashka; Gospodinova, Mariana; Ormandjieva, Anastasia; Todorov, Tihomir; Asenov, Ognian; Chamova, Teodora; Antimov, Plamen; Mikova, Dilyana; Palashev, Yordan; Tournev, Ivailo; Todorova, Albena

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

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

利用多层网络构建的罕见病研究工作流程阐明了先天性重症肌无力综合征严重程度的分子决定因素

Núñez-Carpintero, Iker; Rigau, Maria; Bosio, Mattia; O'Connor, Emily; Spendiff, Sally; Azuma, Yoshiteru; Topf, Ana; Thompson, Rachel; 't Hoen, Peter A C; Chamova, Teodora; Tournev, Ivailo; Guergueltcheva, Velina; Laurie, Steven; Beltran, Sergi; Capella-Gutiérrez, Salvador; Cirillo, Davide; Lochmüller, Hanns; Valencia, Alfonso

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

先天性肌无力综合征临床表型特征分析,该综合征与编码乙酰胆碱受体ε亚基的CHRNE基因c.1327delG移码突变相关

Kastreva, Kristina; Chamova, Teodora; Blagoeva, Stanislava; Bichev, Stoyan; Mihaylova, Violeta; Meyer, Stefanie; Thompson, Rachel; Cherninkova, Sylvia; Guergueltcheva, Velina; Lochmuller, Hanns; Tournev, Ivailo

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma

保加利亚穆斯林罗姆人遗传同质群体中 LGMD 2C/R5 的表型变异

Taneva, Ani; Gresham, David; Guergueltcheva, Velina; Chamova, Teodora; Bojinova, Veneta; Gospodinova, Mariana; Katzarova, Maria; Petkov, Radoslav; Voit, Thomas; Aneva, Lidia; Asenov, Ognyan; Georgieva, Bilyana; Mihaylova, Violeta; Bichev, Stoyan; Todorov, Tihomir; Todorova, Albena; Kalaydjieva, Luba; Tournev, Ivailo

Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype

病例报告:转甲状腺素蛋白 Glu54Leu 突变——一种以心脏表型为主的罕见突变

Gospodinova, Mariana; Zhelyazkova, Sashka; Chamova, Teodora; Asenov, Ognyan; Pavlova, Zornitsa; Todorov, Tihomir; Mikova, Dilyana; Palashev, Yordan; Gruev, Ivan; Kundurdjiev, Atanas; Todorova, Albena; Tournev, Ivailo

Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree

PFN1基因(ALS18)中的一种新变异c.92T>G(p.Val31Gly)导致保加利亚一个大型肌萎缩侧索硬化症家系出现特定表型。

Angelov, Teodor; Chamova, Teodora; Atemin, Slavena; Todorov, Tihomir; Ormandzhiev, Slavko; Tourtourikov, Ivan; Todorova, Albena; Devos, David; Tournev, Ivailo

Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria

保加利亚七年选择性基因筛查计划及对遗传性转甲状腺素蛋白淀粉样变性无症状携带者的随访

Chamova, Teodora; Gospodinova, Mariana; Asenov, Ognian; Todorov, Tihomir; Pavlova, Zornitsa; Kirov, Andrey; Cherninkova, Sylvia; Kastreva, Kristina; Taneva, Ani; Blagoeva, Stanislava; Zhelyazkova, Sashka; Antimov, Plamen; Chobanov, Kaloian; Todorova, Albena; Tournev, Ivailo

Screening for hereditary transthyretin amyloidosis in Bulgaria

在保加利亚进行遗传性转甲状腺素蛋白淀粉样变性筛查

Nakov, Radislav; Nakov, Ventsislav; Gospodinova, Mariana; Todorov, Tihomir; Todorova, Albena; Chamova, Teodora; Tournev, Ivailo