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

A20 (TNFAIP3) Distinguishes Attack From Remission in Pediatric Patients With Monophasic MOGAD

A20 (TNFAIP3) 可区分单相 MOGAD 患儿的发作期和缓解期

Lechner, Christian; Saxena, Shrishti; Lokhande, Hrishikesh A; Breu, Markus; Eisenkölbl, Astrid; Karenfort, Michael; Klein, Andrea; Leiz, Steffen; Preisel, Martin; Rooney, Timothy; Rosso, Mattia; Schimmel, Mareike; Wendel, Eva Maria; Reindl, Markus; Baumann, Matthias; Rostasy, Kevin; Chitnis, Tanuja

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types

多国儿科队列中的Sturge-Weber综合征:不同类型的系统分析

Disse, Sigrid; Ramantani, Georgia; Küpper, Hanna; Bock, Annette; Korenke, Georg-Christoph; Weidner, Birgit; Preisel, Martin; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wellmann, Sven; Brockmann, Knut; Schroeder, Simone; Meyer, Sascha

Cerebrospinal Fluid Cytology in Lyme Neuroborreliosis Revisited-Role of Neutrophilic Granulocytes: A Retrospective Single-Center Study

莱姆病神经系统螺旋体病脑脊液细胞学研究再探——中性粒细胞的作用:一项回顾性单中心研究

Otto, Ferdinand; Wipfler, Peter; Hitzl, Wolfgang; Preisel, Martin; Harrer, Andrea; Pilz, Georg

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

PSMC3蛋白酶体亚基变体与神经发育迟缓和I型干扰素产生有关。

Frédéric Ebstein,Sébastien Küry,Yiran Guo,Hakon Hakonarson,Sophie Rondeau,Geneviève Baujat,Giulia Barcia,René Günther Feichtinger,Johannes Adalbert Mayr,Martin Preisel,Frédéric Laumonnier,Tilmann Kallinich,Alexej Knaus,Bertrand Isidor,Elke Hammer,Arnaud Droit,Evan E Eichler,Ype Elgersma,François Bolduc,Elke Krüger,Stéphane Bézieau

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

STXBP1致病变异个体的自然史和发育轨迹

Thalwitzer, Kim M; Driedger, Jan H; Xian, Julie; Saffari, Afshin; Zacher, Pia; Bölsterli, Bigna K; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N; Kellinghaus, Christoph; Althaus, Jürgen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M H; Debus, Otfried M; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; Schlump, Jan-Ulrich; Laufs, Mirjam; Mammadova, Dilbar; Wurst, Carsten; Prager, Christine; Löhr-Nilles, Christa; Martin, Peter; Garbade, Sven F; Platzer, Konrad; Benkel-Herrenbrueck, Ira; Egler, Kerstin; Fazeli, Walid; Lemke, Johannes R; Runkel, Eva; Klein, Barbara; Linden, Tobias; Schröter, Julian; Steffeck, Heike; Thies, Bastian; von Deimling, Florian; Illsinger, Sabine; Borggraefe, Ingo; Classen, Georg; Wieczorek, Dagmar; Ramantani, Georgia; Koelker, Stefan; Hoffmann, Georg F; Ries, Markus; Helbig, Ingo; Syrbe, Steffen

Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.

病例报告——遗传性功能丧失的 NRXN3 变异可能导致与先前描述的 14q24.3-31.1 缺失一致的自闭症神经发育障碍。

Feichtinger René G, Preisel Martin, Brugger Karin, Wortmann Saskia B, Mayr Johannes A

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

SUFU基因的杂合截断变异会导致先天性眼动失用症

Schröder, Simone; Li, Yun; Yigit, Gökhan; Altmüller, Janine; Bader, Ingrid; Bevot, Andrea; Biskup, Saskia; Dreha-Kulaczewski, Steffi; Christoph Korenke, G; Kottke, Raimund; Mayr, Johannes A; Preisel, Martin; Toelle, Sandra P; Wente-Schulz, Sarah; Wortmann, Saskia B; Hahn, Heidi; Boltshauser, Eugen; Uhmann, Anja; Wollnik, Bernd; Brockmann, Knut

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

更正:Spenger 等人,《新生儿筛查漏诊 I 型戊二酸尿症:来自三个家庭的四例病例报告》,《国际新生儿筛查杂志》,2021 年,第 7 卷,第 32 页。

Spenger, Johannes; Maier, Esther M; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A; Konstantopoulou, Vassiliki; Röschinger, Wulf; Häberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B; Fingerhut, Ralph

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

新生儿筛查漏诊I型戊二酸尿症:三个家庭四例病例报告

Spenger, Johannes; Maier, Esther M; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A; Konstantopoulou, Vassiliki; Röschinger, Wulf; Häberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B; Fingerhut, Ralph