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

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

Viorica Chelban #,Henriette Aksnes #,Reza Maroofian,Lauren C LaMonica,Luis Seabra,Anette Siggervåg,Perrine Devic,Hanan E Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M Natalia Zanetti,Rauan Kaiyrzhanov  ,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V Schottlaender    ,Heba Morsy  ,Annarita Scardamaglia,Ambreen Tariq,Alistair T Pagnamenta,Ajia Pennavaria,Liv S Krogstad,Åse K Bekkelund,Alessia Caiella,Nina Glomnes  ,Kirsten M Brønstad,Sandrine Tury,Andrés Moreno De Luca  0 ,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim    ,Benjamin Cretin    ,Barbara Vona  ,Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller    ,Sahar I Da'as  ,Khalid A Fakhro    ,Alicia Gómez-Pascual,Juan A Botía,Nicholas W Wood  0 ,Rita Horvath,Andreas M Ernst  ,James E Rothman  ,Meriel McEntagart,Yanick J Crow  ,Fowzan S Alkuraya  ,Gaël Nicolas  ; SYNaPS Study Group; Thomas Arnesen  ,Henry Houlden

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene

由 PEX14 基因新生变异引起的常染色体显性泽尔韦格综合征

Hans R Waterham, Janet Koster, Merel S Ebberink, Pavel Ješina, Jiri Zeman, Lenka Nosková, Stanislav Kmoch, Perrine Devic, David Cheillan, Ronald J A Wanders, Sacha Ferdinandusse