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Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 792, doi. 10.1002/jimd.12725
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- Publication type:
- Article
Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 4028, doi. 10.1007/s00415-024-12322-3
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- Publication type:
- Article
Obituary: Jacob Valk.
- Published in:
- 2024
- By:
- Publication type:
- Editorial
Jacob Valk, MD, PhD.
- Published in:
- American Journal of Neuroradiology, 2024, v. 45, n. 6, p. E8, doi. 10.3174/ajnr.A8318
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- Publication type:
- Article
Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01784-1
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- Publication type:
- Article
Proteomic dissection of vanishing white matter pathogenesis.
- Published in:
- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05258-4
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- Publication type:
- Article
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352947
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- Publication type:
- Article
Adaptive behavior assessed by Vineland‐3 as comprehensive outcome measure in vanishing white matter.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 650, doi. 10.1002/acn3.51985
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- Publication type:
- Article
Pridopidine subtly ameliorates motor skills in a mouse model for vanishing white matter.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 3, p. 1, doi. 10.26508/lsa.202302199
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- Publication type:
- Article
Lithium: effects in animal models of vanishing white matter are not promising.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1275744
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- Publication type:
- Article
Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders.
- Published in:
- Journal of Neuroimaging, 2024, v. 34, n. 1, p. 61, doi. 10.1111/jon.13167
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- Publication type:
- Article
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
- Published in:
- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03354-9
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- Publication type:
- Article
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 7, p. 1146, doi. 10.1002/acn3.51796
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- Publication type:
- Article
A novel role for MLC1 in regulating astrocyte–synapse interactions.
- Published in:
- Glia, 2023, v. 71, n. 7, p. 1770, doi. 10.1002/glia.24368
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- Publication type:
- Article
Regional vulnerability of brain white matter in vanishing white matter.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01599-6
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- Publication type:
- Article
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 904, doi. 10.1002/acn3.51772
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- Publication type:
- Article
Reply to "Type I IFN Signature in NOTCH1‐Related Leukoencephalopathy".
- Published in:
- Annals of Neurology, 2023, v. 93, n. 5, p. 1043, doi. 10.1002/ana.26629
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- Publication type:
- Article
Radiological correlates of episodes of acute decline in the leukodystrophy vanishing white matter.
- Published in:
- Neuroradiology, 2023, v. 65, n. 4, p. 855, doi. 10.1007/s00234-022-03097-3
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- Publication type:
- Article
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1999, doi. 10.1002/acn3.51692
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- Publication type:
- Article
Cortical Pathology in Vanishing White Matter.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 22, p. 3581, doi. 10.3390/cells11223581
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- Publication type:
- Article
Therapeutic potential of human stem cell transplantations for Vanishing White Matter: A quest for the Goldilocks graft.
- Published in:
- CNS Neuroscience & Therapeutics, 2022, v. 28, n. 9, p. 1315, doi. 10.1111/cns.13872
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- Publication type:
- Article
Neuron‐specific translational control shift ensures proteostatic resilience during ER stress.
- Published in:
- EMBO Journal, 2022, v. 41, n. 16, p. 1, doi. 10.15252/embj.2021110501
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- Publication type:
- Article
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
- Published in:
- Acta Neuropathologica, 2022, v. 144, n. 2, p. 211, doi. 10.1007/s00401-022-02440-5
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- Publication type:
- Article
Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1147, doi. 10.1002/acn3.51611
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- Publication type:
- Article
Neonatal quantitative electroencephalography and long‐term outcomes: a systematic review.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 4, p. 413, doi. 10.1111/dmcn.15133
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- Publication type:
- Article
Heterogeneity of white matter astrocytes in the human brain.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 2, p. 159, doi. 10.1007/s00401-021-02391-3
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- Publication type:
- Article
DTYMK is essential for genome integrity and neuronal survival.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
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- Publication type:
- Article
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2941, doi. 10.1002/ajmg.a.62377
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- Publication type:
- Article
Pathology of the neurovascular unit in leukodystrophies.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01206-6
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- Publication type:
- Article
Five men with arresting and relapsing cerebral adrenoleukodystrophy.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 3, p. 936, doi. 10.1007/s00415-020-10225-7
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- Publication type:
- Article
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 539, doi. 10.1210/clinem/dgaa795
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- Publication type:
- Article
Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
- Published in:
- 2020
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- Publication type:
- Correction Notice
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 289, doi. 10.1007/s10048-020-00621-6
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- Publication type:
- Article
Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00786
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- Publication type:
- Article
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 121, doi. 10.1007/s10048-019-00602-4
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- Publication type:
- Article
Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 169, doi. 10.1002/acn3.50975
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- Publication type:
- Article
Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 1, doi. 10.1007/s10048-018-0560-x
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- Publication type:
- Article
Intrathecal baclofen in metachromatic leukodystrophy.
- Published in:
- 2019
- By:
- Publication type:
- case study
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 1, p. 96, doi. 10.1093/hmg/ddy330
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- Publication type:
- Article
Natural History of Vanishing White Matter.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Genetic defects disrupting glial ion and water homeostasis in the brain.
- Published in:
- Brain Pathology, 2018, v. 28, n. 3, p. 372, doi. 10.1111/bpa.12602
- By:
- Publication type:
- Article
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.
- Published in:
- Brain Pathology, 2018, v. 28, n. 3, p. 408, doi. 10.1111/bpa.12606
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- Publication type:
- Article
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
- Published in:
- 2018
- By:
- Publication type:
- letter
Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Axonal abnormalities in vanishing white matter.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 4, p. 429, doi. 10.1002/acn3.540
- By:
- Publication type:
- Article
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.
- Published in:
- Glia, 2018, v. 66, n. 4, p. 862, doi. 10.1002/glia.23289
- By:
- Publication type:
- Article
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions.
- Published in:
- Frontiers in Cellular Neuroscience, 2017, p. 1, doi. 10.3389/fncel.2017.00411
- By:
- Publication type:
- Article