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

Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy

编码RNA外泌体亚基的基因突变可能是血栓性微血管病的一种潜在新病因

Wijnsma, Kioa L; Schijvens, Anne M; Bouwmeester, Romy N; Aarts, Lonneke A M; van den Heuvel, Lambertus Bert P; Haaxma, Charlotte A; van de Kar, Nicole C A J

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

TNPO2 变异与人类发育迟缓、神经功能缺损和畸形特征有关,并会改变果蝇的 TNPO2 活性

Lindsey D Goodman, Heidi Cope, Zelha Nil, Thomas A Ravenscroft, Wu-Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A Koolen, Charlotte A Haaxma, Hermine E Veenstra-Knol, Jolien S Klein Wassink-Ruiter, Marijke R Wevers, Melissa Jones, Laurence E Walsh, Victoria H Klee, Miel Theunis, Eric Le

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

NANS-CDG:遗传、生化和临床谱系的界定

den Hollander, Bibiche; Rasing, Anne; Post, Merel A; Klein, Willemijn M; Oud, Machteld M; Brands, Marion M; de Boer, Lonneke; Engelke, Udo F H; van Essen, Peter; Fuchs, Sabine A; Haaxma, Charlotte A; Jensson, Brynjar O; Kluijtmans, Leo A J; Lengyel, Anna; Lichtenbelt, Klaske D; Østergaard, Elsebet; Peters, Gera; Salvarinova, Ramona; Simon, Marleen E H; Stefansson, Kari; Thorarensen, Ólafur; Ulmen, Ulrike; Coene, Karlien L M; Willemsen, Michèl A; Lefeber, Dirk J; van Karnebeek, Clara D M

Adult GAMT deficiency: A literature review and report of two siblings

成人GAMT缺乏症:文献综述及两例同胞病例报告

Modi, Bhavi P; Khan, Haq Nawaz; van der Lee, Robin; Wasim, Muhammad; Haaxma, Charlotte A; Richmond, Phillip A; Drögemöller, Britt; Shah, Suleman; Salomons, Gajja; van der Kloet, Frans M; Vaz, Fred M; van der Crabben, Saskia N; Ross, Colin J; Wasserman, Wyeth W; van Karnebeek, Clara D M; Awan, Fazli Rabbi

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

RNA 外泌体基因 EXOSC5 中的双等位基因变异与发育迟缓、身材矮小、小脑发育不全和运动无力有关

Anne Slavotinek, Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman, Jennifer E Hurtig, Liz Enyenihi, Maria C Sterrett, Sara W Leung, Dina Schneidman-Duhovny, Juvianee Estrada-Veras, Jacque L Duncan, Charlotte A Haaxma, Erik-Jan Kamsteeg, Vivian Xia, Daniah Beleford, Yue

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

NGLY1 变异会导致智力障碍、肌阵挛性癫痫、感觉运动轴突性多发性神经病和线粒体功能障碍

Daan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, Peter M van Hasselt, Nicole I Wolf, Yvonne Hendriks, Benno Küsters, Sjenet van Emst-de Vries, Els van de Westerlo, Werner J H Koopman, Liesbeth Wintjes, Frans van den Brandt, Maaike de Vries, Dirk J Lefeber, Jan A M Smeitink, Richard J Rodenbur

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

荷兰儿童获得性脱髓鞘综合征的发病率和预后:一项全国性前瞻性研究的最新进展

de Mol, C L; Wong, Y Y M; van Pelt, E D; Ketelslegers, I A; Bakker, D P; Boon, M; Braun, K P J; van Dijk, K G J; Eikelenboom, M J; Engelen, M; Geleijns, K; Haaxma, C A; Niermeijer, J M F; Niks, E H; Peeters, E A J; Peeters-Scholte, C M P C D; Poll-The, B T; Portier, R P; de Rijk-van Andel, J F; Samijn, J P A; Schippers, H M; Snoeck, I N; Stroink, H; Vermeulen, R J; Verrips, A; Visscher, F; Vles, J S H; Willemsen, M A A P; Catsman-Berrevoets, C E; Hintzen, R Q; Neuteboom, R F

Professional occupation and the risk of Parkinson's disease

职业与帕金森病风险

Darweesh, S K L; Ikram, M K; Faber, M J; de Vries, N M; Haaxma, C A; Hofman, A; Koudstaal, P J; Bloem, B R; Ikram, M A

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

ATP8A2 的隐性突变会导致严重的肌张力减退、认知障碍、运动过度运动障碍和进行性视神经萎缩

Hugh J McMillan, Aida Telegrafi, Amanda Singleton, Megan T Cho, Daniel Lelli, Francis C Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E Erasmus, David A Koolen, Charlotte A Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Ya

Phenytoin as a last-resort treatment in SCN8A encephalopathy

苯妥英钠作为SCN8A脑病的最后治疗手段

Braakman, Hilde M; Verhoeven, Judith S; Erasmus, Corrie E; Haaxma, Charlotte A; Willemsen, Marjolein H; Schelhaas, H Jurgen