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The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 778, doi. 10.1002/jimd.12706
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- Publication type:
- Article
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
Riboflavin transporter deficiency in young adults unmasked by dietary changes.
- Published in:
- 2024
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- Publication type:
- Case Study
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
Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges.
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- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 7, p. 1252, doi. 10.1515/cclm-2023-1311
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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
Mutations in NSUN3 , a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.
- Published in:
- 2024
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- Publication type:
- Case Study
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
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
- Published in:
- Neurological Sciences, 2024, v. 45, n. 3, p. 1007, doi. 10.1007/s10072-023-07101-3
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- Publication type:
- Article
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03075-3
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- Publication type:
- Article
Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders.
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- 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.
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- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03354-9
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- Publication type:
- Article
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3513, doi. 10.1093/brain/awad086
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- Publication type:
- Article
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 7, p. 1146, doi. 10.1002/acn3.51796
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- Publication type:
- Article
Cortical interneuron development is affected in 4H leukodystrophy.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2846, doi. 10.1093/brain/awad017
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- Publication type:
- Article
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 217, doi. 10.1002/jmd2.12359
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- Publication type:
- Article
Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact.
- Published in:
- Journal of Child Neurology, 2023, v. 38, n. 1/2, p. 78, doi. 10.1177/08830738231152658
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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
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
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- Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295
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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
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
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- Publication type:
- Article
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).
- Published in:
- 2022
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- Publication type:
- journal article
Personalized medicine for rare neurogenetic disorders: can we make it happen?
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006200
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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
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
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
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- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 539, doi. 10.1210/clinem/dgaa795
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- Publication type:
- Article
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
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1776, doi. 10.1002/ajmg.a.61600
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- Publication type:
- Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
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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
Genome sequencing in persistently unsolved white matter disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 144, doi. 10.1002/acn3.50957
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- Publication type:
- Article
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
- Published in:
- 2019
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- Publication type:
- journal article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
- Published in:
- 2019
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- Publication type:
- journal article
De novo SPAST mutations may cause a complex SPG4 phenotype.
- Published in:
- 2019
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- Publication type:
- letter
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
- Published in:
- 2019
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- Publication type:
- journal article
Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.
- Published in:
- 2019
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- Publication type:
- journal article
Intrathecal baclofen in metachromatic leukodystrophy.
- Published in:
- 2019
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- Publication type:
- case study
Dystonia in RNA Polymerase III‐Related Leukodystrophy.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 155, doi. 10.1002/mdc3.12715
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- Publication type:
- Article
ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
- Published in:
- 2018
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- Publication type:
- letter
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
- Published in:
- 2018
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- Publication type:
- letter
POLR3A variants in hereditary spastic paraplegia and ataxia.
- Published in:
- 2018
- By:
- Publication type:
- letter
Correction to: A phase I/II study of gemcitabine during radiotherapy in children with newly diagnosed diffuse intrinsic pontine glioma.
- Published in:
- 2018
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- Publication type:
- Erratum
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4506, doi. 10.1093/hmg/ddx338
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- Publication type:
- Article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.
- Published in:
- 2017
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- Publication type:
- journal article
A post hoc study on gene panel analysis for the diagnosis of dystonia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Whole exome sequencing in patients with white matter abnormalities.
- Published in:
- 2016
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- Publication type:
- journal article
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
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- Publication type:
- Article