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

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

艾地苯醌治疗莱伯遗传性视神经病变患者的疗效:LEROS非随机对照试验

Yu-Wai-Man, Patrick; Carelli, Valerio; Newman, Nancy J; Silva, Magda Joana; Linden, Aki; Van Stavern, Gregory; Szaflik, Jacek P; Banik, Rudrani; Lubiński, Wojciech; Pemp, Berthold; Liao, Yaping Joyce; Subramanian, Prem S; Misiuk-Hojło, Marta; Newman, Steven; Castillo, Lorena; Kocięcki, Jarosław; Levin, Marc H; Muñoz-Negrete, Francisco Jose; Yagan, Ali; Cherninkova, Sylvia; Katz, David; Meunier, Audrey; Votruba, Marcela; Korwin, Magdalena; Dziedziak, Jacek; Jurkutė, Neringa; Harvey, Joshua P; La Morgia, Chiara; Priglinger, Claudia; Llòria, Xavier; Tomasso, Livia; Klopstock, Thomas

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

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay

保加利亚夏洛瓦-萨格奈常染色体隐性痉挛性共济失调患者的临床和遗传变异

Teodora Chamova, Neviana Ivanova, Sylvia Cherninkova, Maya Koleva, Dora Zlatareva, Veneta Bojinova, Kalina Mihova, Martin Georgiev, Dilyan Ferdinandov, Stoyan Bichev, Radka Kaneva, Vanio Mitev, Albena Jordanova, Ivailo Tournev

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

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q

一种新的常染色体显性锥杆细胞营养不良症基因位点定位于10号染色体长臂(10q)。

Kamenarova, Kunka; Cherninkova, Sylvia; Romero Durán, Margarita; Prescott, DeQuincy; Valdés Sánchez, Maria Lourdes; Mitev, Vanio; Kremensky, Ivo; Kaneva, Radka; Bhattacharya, Shomi S; Tournev, Ivailo; Chakarova, Christina

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1

常染色体隐性先天性小脑共济失调是由代谢型谷氨酸受体 1 突变引起的

Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, Katherine R Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Thai Nguyen, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudmila Angelova, Bharti Morar, David Chandler, Radka Kaneva, Melanie Bahlo, Ivailo Tournev, Luba Kalaydji

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

罗姆人/吉普赛人创始人群中LTBP2和CYP1B1基因突变及相关眼部表型

Azmanov, Dimitar N; Dimitrova, Stanislava; Florez, Laura; Cherninkova, Sylvia; Draganov, Dragomir; Morar, Bharti; Saat, Rosmawati; Juan, Manel; Arostegui, Juan I; Ganguly, Sriparna; Soodyall, Himla; Chakrabarti, Subhabrata; Padh, Harish; López-Nevot, Miguel A; Chernodrinska, Violeta; Anguelov, Botio; Majumder, Partha; Angelova, Lyudmila; Kaneva, Radka; Mackey, David A; Tournev, Ivailo; Kalaydjieva, Luba