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

Iron Deficiency Prevalence in Bulgarian Children with Cerebral Palsy and Autism: A Call for Nutritional Interventions to Support Development

保加利亚脑瘫和自闭症儿童缺铁患病率:呼吁采取营养干预措施以支持发育

Chamova, Rositsa; Nikolova, Silviya; Toneva, Albena; Braykova, Rozalina; Hadzhieva, Stanislava; Bocheva, Yana; Pancheva, Rouzha

Linking Dietary Patterns to Autism Severity and Developmental Outcomes: A Correlational Study Using Food Frequency Questionnaires; The Childhood Autism Rating Scale, Second Edition; And Developmental Profile 3

将饮食模式与自闭症严重程度和发育结果联系起来:一项使用食物频率问卷、儿童自闭症评定量表第二版和发育概况3的相关性研究

Marinov, Dimitar; Eyubova, Sevdzhihan; Toneva, Albena; Chamova, Rositsa; Braykova, Rozalina; Hadzhieva, Stanislava; Pancheva, Ruzha

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

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

A randomized controlled trial protocol for the introduction of a multidisciplinary individualized nutritional intervention in children with cerebral palsy

一项针对脑瘫儿童引入多学科个体化营养干预的随机对照试验方案

Pancheva, Ruzha; Fitneva, Stanka A; Chamova, Rositsa; Marinov, Dimitar; Toneva, Albena; Hadzhieva, Stanislava; Braykova, Rozalina; Yoncheva, Nikoleta; Tsvetanova, Stefka; Nikolova, Silviya; Usheva, Natalya; Huysentruyt, Koen; Dimova, Karina; Bocheva, Yana; Pavlova, Stanislava; Hristanova, Petya