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

Correction to: Origins, admixture and founder lineages in European Roma

更正:欧洲罗姆人的起源、混血和创始人谱系

Martínez-Cruz, Begoña; Mendizabal, Isabel; Harmant, Christine; de Pablo, Rosario; Ioana, Mihai; Angelicheva, Dora; Kouvatsi, Anastasia; Makukh, Halyna; Netea, Mihai G; Pamjav, Horolma; Zalán, Andrea; Tournev, Ivailo; Marushiakova, Elena; Popov, Vesselin; Bertranpetit, Jaume; Kalaydjieva, Luba; Quintana-Murci, Lluis; Comas, David

Origins, admixture and founder lineages in European Roma

欧洲罗姆人的起源、混血和创始人谱系

Martínez-Cruz, Begoña; Mendizabal, Isabel; Harmant, Christine; de Pablo, Rosario; Ioana, Mihai; Angelicheva, Dora; Kouvatsi, Anastasia; Makukh, Halyna; Netea, Mihai G; Pamjav, Horolma; Zalán, Andrea; Tournev, Ivailo; Marushiakova, Elena; Popov, Vesselin; Bertranpetit, Jaume; Kalaydjieva, Luba; Quintana-Murci, Lluis; Comas, David

The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D

担架自发性神经退行性突变模型 Charcot-Marie-Tooth 病 4D 型

Chandler, David; Lopaticki, Sash; Huang, Dexing; Hunter, Michael; Angelicheva, Dora; Kilpatrick, Trevor; King, Rosalind Hm; Kalaydjieva, Luba; Morahan, Grant

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

Deleterious GRM1 mutations in schizophrenia

精神分裂症中的有害 GRM1 突变

Mohammed Akli Ayoub, Dora Angelicheva, David Vile, David Chandler, Bharti Morar, Juleen A Cavanaugh, Peter M Visscher, Assen Jablensky, Kevin D G Pfleger, Luba Kalaydjieva

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR)

己糖激酶 1 的一个非翻译外显子突变与遗传性运动感觉神经病有关——Russe (HMSNR)

Hantke, Janina; Chandler, David; King, Rosalind; Wanders, Ronald J A; Angelicheva, Dora; Tournev, Ivailo; McNamara, Elyshia; Kwa, Marcel; Guergueltcheva, Velina; Kaneva, Radka; Baas, Frank; Kalaydjieva, Luba

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

一种新的吉普赛人创始突变,CMT4C基因中的p.Arg1109X,会导致不同的周围神经病变表型。

Gooding, R; Colomer, J; King, R; Angelicheva, D; Marns, L; Parman, Y; Chandler, D; Bertranpetit, J; Kalaydjieva, L

Mutation history of the roma/gypsies

罗姆人/吉普赛人的基因突变史

Morar, Bharti; Gresham, David; Angelicheva, Dora; Tournev, Ivailo; Gooding, Rebecca; Guergueltcheva, Velina; Schmidt, Carolin; Abicht, Angela; Lochmuller, Hanns; Tordai, Attila; Kalmar, Lajos; Nagy, Melinda; Karcagi, Veronika; Jeanpierre, Marc; Herczegfalvi, Agnes; Beeson, David; Venkataraman, Viswanathan; Warwick Carter, Kim; Reeve, Jeff; de Pablo, Rosario; Kucinskas, Vaidutis; Kalaydjieva, Luba

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23

10q23 上的 EGR2 区域发现了一个新的常染色体隐性遗传周围神经病基因位点

Rogers, T; Chandler, D; Angelicheva, D; Thomas, P K; Youl, B; Tournev, I; Gergelcheva, V; Kalaydjieva, L

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

N-myc下游调控基因1在遗传性运动感觉神经病-Lom中发生突变

Kalaydjieva, L; Gresham, D; Gooding, R; Heather, L; Baas, F; de Jonge, R; Blechschmidt, K; Angelicheva, D; Chandler, D; Worsley, P; Rosenthal, A; King, R H; Thomas, P K