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The Journal of Clinical Investigation|March 15, 2016
Astrocytes are central in the pathomechanisms of vanishing white matterStephanie Dooves, Marianna Bugiani, Nienke L Postma, et al.
Nature Genetics|March 27, 2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper, Thom van der Klok, Rob J van Andel, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Vanishing white matter: deregulated integrated stress response as therapy targetTruus E M Abbink, Lisanne E Wisse, Ermelinda Jaku, et al.
Annals of Neurology|July 30, 2024
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating LeukodystrophyPaola Dimartino, Mariia Zadorozhna, Verónica Yumiceba, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
Human Molecular Genetics|February 23, 2026
Multi-omics investigation of thyroid development and dysfunction in down syndromePeter Lauffer, Nitash Zwaveling-Soonawala, Andrew Y F Li Yim, et al.
Brain Pathology (Zurich, Switzerland)|March 29, 2008
Staging of neurofibrillary pathology in Alzheimer's disease: a study of the BrainNet Europe ConsortiumIrina Alafuzoff, Thomas Arzberger, Safa Al-Sarraj, et al.
Viruses|April 23, 2022
Brain Inflammation and Intracellular α-Synuclein Aggregates in Macaques after SARS-CoV-2 InfectionIngrid H C H M Philippens, Kinga P Böszörményi, Jacqueline A M Wubben, et al.
Neurology|February 10, 2019
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Neurology|June 5, 2016
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophyDiane F van Rappard, Marianna Bugiani, Jaap J Boelens, et al.
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