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Neurology|July 23, 2017
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDGDavid C Schorling, Simone Rost, Dirk J Lefeber, et al.Annals of Clinical and Translational Neurology|July 12, 2017
Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse modelMarianna Bugiani, Mohit Dubey, Marjolein Breur, et al.Annals of Clinical and Translational Neurology|July 2, 2022
Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1Diede Witkamp, Ellen Oudejans, Gino V Hu-A-Ng, et al.The Journal of Pathology|December 3, 2021
Indoleamine 2,3-dioxygenase (IDO)-1 and IDO-2 activity and severe course of COVID-19Lihui Guo, Bernadette Schurink, Eva Roos, et al.Human Molecular Genetics|October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypesJulian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.Journal of Alzheimer'S Disease : JAD|March 23, 2011
A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological featuresMaura Gallo, Norina Marcello, Sabrina A M Curcio, et al.BMJ Open Respiratory Research|September 21, 2021
COVID-19 is associated with distinct myopathic features in the diaphragm of critically ill patientsZhonghua Shi, Sylvia J P Bogaards, Stefan Conijn, et al.Prenatal Diagnosis|December 23, 2018
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort studyJill K Tjon, Gita M Tan-Sindhunata, Marianna Bugiani, et al.BMJ Open|January 16, 2026
Protocol for the development of a global core outcome set for the surgical treatment of sacrococcygeal teratoma in children: a systematic review and international Delphi studyMalou Cécile Dongen, Rick van Rijn, Shilpa Sharma, et al.Neuro-Oncology Advances|June 23, 2022
Generation of immunocompetent syngeneic allograft mouse models for pediatric diffuse midline gliomaAimée du Chatinier, Michaël H Meel, Arvid I Das, et al.Pageof 18