Research graph
References from Gene therapy in leukodystrophies. Local targets link to admitted publications; unresolved targets remain external evidence.
Oligodendrocytes Do Not Export NAA-Derived Aspartate In Vitro
10.1007/s11064-016-1985-y · 2017 · External reference
Gene and Cellular Therapies for Leukodystrophies
10.3390/pharmaceutics15112522 · 2023 · External reference
Long-Term Functional Outcomes after Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease
10.1016/j.bbmt.2018.06.020 · 2018 · External reference
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
10.1080/14737175.2020.1699060 · 2020 · External reference
Gene therapy for leukodystrophy: progress, challenges and opportunities
10.1517/21678707.2016.1151352 · 2016 · External reference
Encapsulated cells as an enzyme replacement therapy for metachromatic leukodystrophy
10.1016/j.jconrel.2025.114307 · 2025 · External reference
Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy
10.1016/j.omtm.2024.101248 · 2024 · External reference
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
10.1186/s13073-019-0676-0 · 2019 · External reference
The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy
10.1136/jmg.31.9.663 · 1994 · External reference
Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice
10.1016/s1525-0016(03)00002-9 · 2003 · External reference
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy
10.1111/j.1750-3639.2010.00393.x · 2010 · External reference
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy
10.1126/science.1233158 · 2013 · External reference
Unresolved reference
2026 · External reference
Leukodystrophies in Children: diagnosis, Care, and Treatment
10.1542/peds.2021-053126 · 2021 · External reference
The burden of inherited leukodystrophies in children
10.1212/wnl.0b013e3181eee46b · 2010 · External reference
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy
10.1172/jci133953 · 2020 · External reference
Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy
10.1016/j.ymthe.2023.11.014 · 2024 · External reference
Krabbe disease: new hope for an old disease
10.1016/j.neulet.2021.135841 · 2021 · External reference
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: results from a phase 1/2 clinical trial
10.1016/j.ymgme.2020.07.002 · 2020 · External reference
CRISPR-dependent base editing as a therapeutic strategy for rare monogenic disorders
10.3389/fgeed.2025.1553590 · 2025 · External reference
Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy
10.1016/b978-0-12-386509-0.00010-7 · 2012 · External reference
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
10.1126/science.1171242 · 2009 · External reference
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
10.1002/humu.22919 · 2016 · External reference
A systematic review on the birth prevalence of metachromatic leukodystrophy
10.1186/s13023-024-03044-w · 2024 · External reference
Stem cell derived oligodendrocytes to study myelin diseases
10.1002/glia.23733 · 2020 · External reference
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology
10.1111/cge.12811 · 2016 · External reference
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy
10.1093/hmg/2.11.1841 · 1993 · External reference
RNA therapeutics: rNAi and antisense mechanisms and clinical applications
10.14304/surya.jpr.v4n7.5 · 2016 · External reference
A new familial infantile form of diffuse brain-sclerosis
10.1093/brain/awt232 · 2013 · External reference
POLR3-related leukodystrophy: how do mutations affecting RNA polymerase III subunits cause hypomyelination?
10.12703/r/10-12 · 2021 · External reference
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
10.1136/jmedgenet-2012-101357 · 2013 · External reference
D-Aspartate treatment attenuates myelin damage and stimulates myelin repair
10.15252/emmm.201809278 · 2019 · External reference
Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B
10.1073/pnas.76.4.1957 · 1979 · External reference
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
10.1212/nxg.0000000000000289 · 2018 · External reference
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder
10.1016/s0166-2236(98)01319-8 · 1999 · External reference
Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: retrospective Study on Predictors of Outcomes
10.3390/pharmaceutics14122778 · 2022 · External reference
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy
10.1056/nejmoa2405541 · 2024 · External reference
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
10.1056/nejmoa1700554 · 2017 · External reference
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
10.1056/nejmoa2400442 · 2024 · External reference
Initial Biomarker and Clinical Findings from the CANaspire Canavan Disease Gene Therapy Trial: Exploration of Connections between NAA and Disease Severity
2023 · External reference
Pelizaeus-Merzbacher disease: on the cusp of myelin medicine
10.1016/j.molmed.2024.03.005 · 2024 · External reference
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
10.1186/1750-1172-7-51 · 2012 · External reference
Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease
10.1056/nejmoa042604 · 2005 · External reference
P014: first-in-human phase 1/2 trial of intravenous FBX-101 with cord blood transplantation increases GALC, brain and motor development in infantile Krabbe
2023 · External reference
O30: REKLAIM: a firstin-human phase Ib clinical trial of FBX-101 (AAVrh10. GALC) intravenously administered after UCBT for infantile Krabbe disease
10.1016/j.gimo.2024.100875 · 2024 · External reference
Atidarsagene autotemcel for metachromatic leukodystrophy
2024 · External reference
Preclinical biodistribution, tropism, and efficacy of oligotropic AAV/Olig001 in a mouse model of congenital white matter disease
10.1016/j.omtm.2021.01.009 · 2021 · External reference
N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase
10.1016/j.nbd.2016.10.001 · 2016 · External reference
Dual-function AAV gene therapy reverses late-stage Canavan disease pathology in mice
10.3389/fnmol.2022.1061257 · 2022 · External reference
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification
10.1016/j.jstrokecerebrovasdis.2010.11.008 · 2011 · External reference
Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy
10.1056/nejmoa2405727 · 2025 · External reference
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
10.1016/s0140-6736(21)02017-1 · 2022 · External reference
Metachromatic leukodystrophy: a single-center longitudinal study of 45 patients
10.1002/jimd.12388 · 2021 · External reference
Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): a therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gimo.2025.103432 · 2025 · External reference
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options
10.1111/j.1651-2227.2008.00648.x · 2008 · External reference
Current Therapeutic Approaches in Leukodystrophies: a Review
10.1177/0883073818792313 · 2018 · External reference
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
10.1001/jamaneurol.2016.2067 · 2016 · External reference
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
10.1080/14712598.2022.2124857 · 2022 · External reference
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years
10.1161/strokeaha.121.036307 · 2022 · External reference
Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke
10.1212/nxg.0000000000200182 · 2024 · External reference
Clinical aspects of globoid cell and metachromatic leukodystrophies
1971 · External reference
Diagnosis of Krabbe’s infantile leucodystrophy
10.1136/jnnp.26.3.195 · 1963 · External reference
Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease
10.1002/ana.25118 · 2018 · External reference
Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy
10.1186/s40478-020-01093-3 · 2020 · External reference
Leukodystrophy incidence in Germany
10.1002/(sici)1096-8628(19970905)71:4<475::aid-ajmg20>3.0.co;2-c · 1997 · External reference
Brain Targeted AAV1-GALC Gene Therapy Reduces Psychosine and Extends Lifespan in a Mouse Model of Krabbe Disease
10.3390/genes14081517 · 2023 · External reference
Efficacy and Safety of a Krabbe Disease Gene Therapy
10.1089/hum.2021.245 · 2022 · External reference
Canavan disease: clinical features and recent advances in research
10.1111/ped.12422 · 2014 · External reference
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene
10.1177/08830738030180090801 · 2003 · External reference
Pelizaeus-Merzbacher Disease: molecular and Cellular Pathologies and Associated Phenotypes
10.1007/978-981-32-9636-7_13 · 2019 · External reference
Acute diffuse infantile sclerosis of the brain (Krabbe’s disease); a report of two cases in sibs
10.1111/j.1651-2227.1953.tb05567.x · 1953 · External reference
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
10.1186/1750-1172-9-18 · 2014 · External reference
Advances of Genome Editing with CRISPR/Cas9 in Neurodegeneration: the Right Path towards Therapy
10.3390/biomedicines11123333 · 2023 · External reference
POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages
10.1016/j.scr.2025.103805 · 2025 · External reference
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy
10.1093/brain/awx016 · 2017 · External reference
Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease
10.1002/jnr.22233 · 2009 · External reference
Oligodendrocyte-targeted adeno-associated virus gene therapy for Canavan disease in children: a phase 1/2 trial
10.1038/s41591-025-03919-w · 2025 · External reference
GFAP mutations in Alexander disease
10.1016/s0736-5748(02)00019-9 · 2002 · External reference
Stem cell and gene therapies for leukodystrophies
10.1016/j.omtm.2025.101527 · 2025 · External reference
Single systemic administration of a gene therapy leading to disease treatment in metachromatic leukodystrophy arsa knock-out mice
10.1523/jneurosci.1829-22.2023 · 2023 · External reference
Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: a case series
2023 · External reference
Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy
10.1093/braincomms/fcz048 · 2020 · External reference
Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation
2019 · External reference
Eine eigenartige familiär-hereditäre erkrankungsform (Aplasia axialis extracorticalis congenita)
10.1007/bf02893591 · 1910 · External reference
Alexander disease
10.1523/jneurosci.5384-11.2012 · 2012 · External reference
Gene therapy for the leukodystrophies: from preclinical animal studies to clinical trials
10.1016/j.neurot.2024.e00443 · 2024 · External reference
Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report
10.1182/blood-2011-01-329235 · 2011 · External reference
Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A
10.1038/s41598-021-99979-2 · 2021 · External reference
X-linked adrenoleukodystrophy
10.1038/ncpneuro0421 · 2007 · External reference
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
10.1038/361726a0 · 1993 · External reference
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
10.3389/fneur.2023.1219324 · 2023 · External reference
10.1016/j.bbmt.2011.09.013
10.1016/j.bbmt.2011.09.013 · 2011 · External reference
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants
10.1186/s13052-025-02031-6 · 2025 · External reference
Emerging cellular themes in leukodystrophies
10.3389/fcell.2022.902261 · 2022 · External reference
Neurogenetics of Pelizaeus-Merzbacher disease
10.1016/b978-0-444-64076-5.00045-4 · 2018 · External reference
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: review of Clinical Manifestations as Foundations for Therapeutic Development
10.3389/fneur.2021.788168 · 2021 · External reference
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
10.1016/j.ymgme.2014.12.434 · 2015 · External reference
Leukodystrophies
10.1007/978-1-4614-0653-2_13 · 2012 · External reference
The Challenge of Gene Therapy for Neurological Diseases: strategies and Tools to Achieve Efficient Delivery to the Central Nervous System
10.1089/hum.2020.105 · 2021 · External reference
Characterization of a novel adeno-associated viral vector with preferential oligodendrocyte tropism
10.1038/gt.2016.62 · 2016 · External reference
Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease
10.34172/bi.2020.13 · 2020 · External reference
10.1101/2025.03.12.642609
10.1101/2025.03.12.642609 · External reference
Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series
10.1182/bloodadvances.2023011836 · 2024 · External reference
Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy
10.1089/hum.2020.269 · 2021 · External reference
Addressing the Value of Gene Therapy and Enhancing Patient Access to Transformative Treatments
10.1016/j.ymthe.2018.10.017 · 2018 · External reference
Leukodystrophies and genetic leukoencephalopathies in children
10.1016/j.neurol.2019.04.003 · 2020 · External reference
Mendelian adult-onset leukodystrophy genes in Alzheimer’s disease: critical influence of CSF1R and NOTCH3
10.1016/j.neurobiolaging.2018.01.015 · 2018 · External reference
Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gimo.2023.100835 · 2023 · External reference
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial
10.1016/s0140-6736(16)30374-9 · 2016 · External reference
Hematopoietic stem cell transplantation in leukodystrophies
10.1016/b978-0-323-99209-1.00017-x · 2024 · External reference
Intracerebral gene therapy in children with metachromatic leukodystrophy: results of a phase I/II trial
2018 · External reference
Metachromatic Leukodystrophy: diagnosis, Modeling, and Treatment Approaches
10.3389/fmed.2020.576221 · 2020 · External reference
Alexander disease: an astrocytopathy that produces a leukodystrophy
10.1111/bpa.12601 · 2018 · External reference
New therapeutic approaches for Krabbe disease: the potential of pharmacological chaperones
10.1002/jnr.23762 · 2016 · External reference
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
10.1038/ncomms8623 · 2015 · External reference
Microbiota gut-brain axis: implications for pediatric-onset leukodystrophies
10.3389/fnut.2024.1417981 · 2024 · External reference
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms
10.1007/s00401-017-1739-1 · 2017 · External reference
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
10.1002/ana.10112 · 2002 · External reference
Vanishing white matter disease
10.1016/s1474-4422(06)70440-9 · 2006 · External reference
Diagnosis, prognosis, and treatment of leukodystrophies
10.1016/s1474-4422(19)30143-7 · 2019 · External reference
The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease
1989 · External reference
Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy
10.1001/jamaneurol.2013.629 · 2013 · External reference
Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders
10.1016/j.spen.2012.10.001 · 2012 · External reference
Case definition and classification of leukodystrophies and leukoencephalopathies
10.1016/j.ymgme.2015.01.006 · 2015 · External reference
Leukodystrophies
10.1212/con.0000000000000560 · 2018 · External reference
Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: influence of age and sex is confirmed, while a role of chronic graft-versus-host disease in delayed puberty onset is revealed
10.1111/petr.13773 · 2020 · External reference
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction
10.1002/acn3.50975 · 2020 · External reference
Treatment of leukodystrophies: advances and challenges
10.1016/j.ejpn.2025.03.016 · 2025 · External reference
Overlapping Protein Accumulation Profiles of CADASIL and CAA: is There a Common Mechanism Driving Cerebral Small-Vessel Disease?
10.1016/j.ajpath.2020.11.015 · 2021 · External reference
The impact of leukodystrophies on parents’ lives
10.1093/jpepsy/jsaf072 · 2025 · External reference
Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review
10.3389/fneur.2025.1573052 · 2025 · External reference
Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders
10.1016/j.omtm.2024.101357 · 2024 · External reference
Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy
10.1001/jamaneurol.2013.629 · ExternalCitation · doi-reference
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
10.1001/jamaneurol.2016.2067 · ExternalCitation · doi-reference
Leukodystrophy incidence in Germany
10.1002/(sici)1096-8628(19970905)71:4<475::aid-ajmg20>3.0.co;2-c · ExternalCitation · doi-reference
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction
10.1002/acn3.50975 · ExternalCitation · doi-reference
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
10.1002/ana.10112 · ExternalCitation · doi-reference
Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease
10.1002/ana.25118 · ExternalCitation · doi-reference
Stem cell derived oligodendrocytes to study myelin diseases
10.1002/glia.23733 · ExternalCitation · doi-reference
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
10.1002/humu.22919 · ExternalCitation · doi-reference
Metachromatic leukodystrophy: a single-center longitudinal study of 45 patients
10.1002/jimd.12388 · ExternalCitation · doi-reference
Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease
10.1002/jnr.22233 · ExternalCitation · doi-reference
New therapeutic approaches for Krabbe disease: the potential of pharmacological chaperones
10.1002/jnr.23762 · ExternalCitation · doi-reference
Leukodystrophies
10.1007/978-1-4614-0653-2_13 · ExternalCitation · doi-reference
Pelizaeus-Merzbacher Disease: molecular and Cellular Pathologies and Associated Phenotypes
10.1007/978-981-32-9636-7_13 · ExternalCitation · doi-reference
Eine eigenartige familiär-hereditäre erkrankungsform (Aplasia axialis extracorticalis congenita)
10.1007/bf02893591 · ExternalCitation · doi-reference
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms
10.1007/s00401-017-1739-1 · ExternalCitation · doi-reference
Oligodendrocytes Do Not Export NAA-Derived Aspartate In Vitro
10.1007/s11064-016-1985-y · ExternalCitation · doi-reference
Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy
10.1016/b978-0-12-386509-0.00010-7 · ExternalCitation · doi-reference
Hematopoietic stem cell transplantation in leukodystrophies
10.1016/b978-0-323-99209-1.00017-x · ExternalCitation · doi-reference
Neurogenetics of Pelizaeus-Merzbacher disease
10.1016/b978-0-444-64076-5.00045-4 · ExternalCitation · doi-reference
Overlapping Protein Accumulation Profiles of CADASIL and CAA: is There a Common Mechanism Driving Cerebral Small-Vessel Disease?
10.1016/j.ajpath.2020.11.015 · ExternalCitation · doi-reference
10.1016/j.bbmt.2011.09.013
10.1016/j.bbmt.2011.09.013 · ExternalCitation · doi-reference
Long-Term Functional Outcomes after Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease
10.1016/j.bbmt.2018.06.020 · ExternalCitation · doi-reference
Treatment of leukodystrophies: advances and challenges
10.1016/j.ejpn.2025.03.016 · ExternalCitation · doi-reference
Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gimo.2023.100835 · ExternalCitation · doi-reference
O30: REKLAIM: a firstin-human phase Ib clinical trial of FBX-101 (AAVrh10. GALC) intravenously administered after UCBT for infantile Krabbe disease
10.1016/j.gimo.2024.100875 · ExternalCitation · doi-reference
Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): a therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gimo.2025.103432 · ExternalCitation · doi-reference
Encapsulated cells as an enzyme replacement therapy for metachromatic leukodystrophy
10.1016/j.jconrel.2025.114307 · ExternalCitation · doi-reference
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification
10.1016/j.jstrokecerebrovasdis.2010.11.008 · ExternalCitation · doi-reference
Pelizaeus-Merzbacher disease: on the cusp of myelin medicine
10.1016/j.molmed.2024.03.005 · ExternalCitation · doi-reference
N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase
10.1016/j.nbd.2016.10.001 · ExternalCitation · doi-reference
Krabbe disease: new hope for an old disease
10.1016/j.neulet.2021.135841 · ExternalCitation · doi-reference
Mendelian adult-onset leukodystrophy genes in Alzheimer’s disease: critical influence of CSF1R and NOTCH3
10.1016/j.neurobiolaging.2018.01.015 · ExternalCitation · doi-reference
Leukodystrophies and genetic leukoencephalopathies in children
10.1016/j.neurol.2019.04.003 · ExternalCitation · doi-reference
Gene therapy for the leukodystrophies: from preclinical animal studies to clinical trials
10.1016/j.neurot.2024.e00443 · ExternalCitation · doi-reference
Preclinical biodistribution, tropism, and efficacy of oligotropic AAV/Olig001 in a mouse model of congenital white matter disease
10.1016/j.omtm.2021.01.009 · ExternalCitation · doi-reference
Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy
10.1016/j.omtm.2024.101248 · ExternalCitation · doi-reference
Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders
10.1016/j.omtm.2024.101357 · ExternalCitation · doi-reference
Stem cell and gene therapies for leukodystrophies
10.1016/j.omtm.2025.101527 · ExternalCitation · doi-reference
POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages
10.1016/j.scr.2025.103805 · ExternalCitation · doi-reference
Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders
10.1016/j.spen.2012.10.001 · ExternalCitation · doi-reference
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
10.1016/j.ymgme.2014.12.434 · ExternalCitation · doi-reference
Case definition and classification of leukodystrophies and leukoencephalopathies
10.1016/j.ymgme.2015.01.006 · ExternalCitation · doi-reference
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: results from a phase 1/2 clinical trial
10.1016/j.ymgme.2020.07.002 · ExternalCitation · doi-reference
Addressing the Value of Gene Therapy and Enhancing Patient Access to Transformative Treatments
10.1016/j.ymthe.2018.10.017 · ExternalCitation · doi-reference
Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy
10.1016/j.ymthe.2023.11.014 · ExternalCitation · doi-reference
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial
10.1016/s0140-6736(16)30374-9 · ExternalCitation · doi-reference
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
10.1016/s0140-6736(21)02017-1 · ExternalCitation · doi-reference
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder
10.1016/s0166-2236(98)01319-8 · ExternalCitation · doi-reference
GFAP mutations in Alexander disease
10.1016/s0736-5748(02)00019-9 · ExternalCitation · doi-reference
Vanishing white matter disease
10.1016/s1474-4422(06)70440-9 · ExternalCitation · doi-reference
Diagnosis, prognosis, and treatment of leukodystrophies
10.1016/s1474-4422(19)30143-7 · ExternalCitation · doi-reference
Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice
10.1016/s1525-0016(03)00002-9 · ExternalCitation · doi-reference
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
10.1038/361726a0 · ExternalCitation · doi-reference
Characterization of a novel adeno-associated viral vector with preferential oligodendrocyte tropism
10.1038/gt.2016.62 · ExternalCitation · doi-reference
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
10.1038/ncomms8623 · ExternalCitation · doi-reference
X-linked adrenoleukodystrophy
10.1038/ncpneuro0421 · ExternalCitation · doi-reference
Oligodendrocyte-targeted adeno-associated virus gene therapy for Canavan disease in children: a phase 1/2 trial
10.1038/s41591-025-03919-w · ExternalCitation · doi-reference
Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A
10.1038/s41598-021-99979-2 · ExternalCitation · doi-reference
Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease
10.1056/nejmoa042604 · ExternalCitation · doi-reference
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
10.1056/nejmoa1700554 · ExternalCitation · doi-reference
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
10.1056/nejmoa2400442 · ExternalCitation · doi-reference
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy
10.1056/nejmoa2405541 · ExternalCitation · doi-reference
Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy
10.1056/nejmoa2405727 · ExternalCitation · doi-reference
Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B
10.1073/pnas.76.4.1957 · ExternalCitation · doi-reference
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
10.1080/14712598.2022.2124857 · ExternalCitation · doi-reference
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
10.1080/14737175.2020.1699060 · ExternalCitation · doi-reference
The Challenge of Gene Therapy for Neurological Diseases: strategies and Tools to Achieve Efficient Delivery to the Central Nervous System
10.1089/hum.2020.105 · ExternalCitation · doi-reference
Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy
10.1089/hum.2020.269 · ExternalCitation · doi-reference
Efficacy and Safety of a Krabbe Disease Gene Therapy
10.1089/hum.2021.245 · ExternalCitation · doi-reference
A new familial infantile form of diffuse brain-sclerosis
10.1093/brain/awt232 · ExternalCitation · doi-reference
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy
10.1093/brain/awx016 · ExternalCitation · doi-reference
Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy
10.1093/braincomms/fcz048 · ExternalCitation · doi-reference
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy
10.1093/hmg/2.11.1841 · ExternalCitation · doi-reference
The impact of leukodystrophies on parents’ lives
10.1093/jpepsy/jsaf072 · ExternalCitation · doi-reference
10.1101/2025.03.12.642609
10.1101/2025.03.12.642609 · ExternalCitation · doi-reference
Alexander disease: an astrocytopathy that produces a leukodystrophy
10.1111/bpa.12601 · ExternalCitation · doi-reference
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology
10.1111/cge.12811 · ExternalCitation · doi-reference
Acute diffuse infantile sclerosis of the brain (Krabbe’s disease); a report of two cases in sibs
10.1111/j.1651-2227.1953.tb05567.x · ExternalCitation · doi-reference
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options
10.1111/j.1651-2227.2008.00648.x · ExternalCitation · doi-reference
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy
10.1111/j.1750-3639.2010.00393.x · ExternalCitation · doi-reference
Canavan disease: clinical features and recent advances in research
10.1111/ped.12422 · ExternalCitation · doi-reference
Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: influence of age and sex is confirmed, while a role of chronic graft-versus-host disease in delayed puberty onset is revealed
10.1111/petr.13773 · ExternalCitation · doi-reference
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
10.1126/science.1171242 · ExternalCitation · doi-reference
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy
10.1126/science.1233158 · ExternalCitation · doi-reference
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
10.1136/jmedgenet-2012-101357 · ExternalCitation · doi-reference
The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy
10.1136/jmg.31.9.663 · ExternalCitation · doi-reference
Diagnosis of Krabbe’s infantile leucodystrophy
10.1136/jnnp.26.3.195 · ExternalCitation · doi-reference
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years
10.1161/strokeaha.121.036307 · ExternalCitation · doi-reference
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy
10.1172/jci133953 · ExternalCitation · doi-reference
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene
10.1177/08830738030180090801 · ExternalCitation · doi-reference
Current Therapeutic Approaches in Leukodystrophies: a Review
10.1177/0883073818792313 · ExternalCitation · doi-reference
Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report
10.1182/blood-2011-01-329235 · ExternalCitation · doi-reference
Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series
10.1182/bloodadvances.2023011836 · ExternalCitation · doi-reference
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
10.1186/1750-1172-7-51 · ExternalCitation · doi-reference
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
10.1186/1750-1172-9-18 · ExternalCitation · doi-reference
A systematic review on the birth prevalence of metachromatic leukodystrophy
10.1186/s13023-024-03044-w · ExternalCitation · doi-reference
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants
10.1186/s13052-025-02031-6 · ExternalCitation · doi-reference
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
10.1186/s13073-019-0676-0 · ExternalCitation · doi-reference
Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy
10.1186/s40478-020-01093-3 · ExternalCitation · doi-reference
Leukodystrophies
10.1212/con.0000000000000560 · ExternalCitation · doi-reference
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
10.1212/nxg.0000000000000289 · ExternalCitation · doi-reference
Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke
10.1212/nxg.0000000000200182 · ExternalCitation · doi-reference
The burden of inherited leukodystrophies in children
10.1212/wnl.0b013e3181eee46b · ExternalCitation · doi-reference
POLR3-related leukodystrophy: how do mutations affecting RNA polymerase III subunits cause hypomyelination?
10.12703/r/10-12 · ExternalCitation · doi-reference
RNA therapeutics: rNAi and antisense mechanisms and clinical applications
10.14304/surya.jpr.v4n7.5 · ExternalCitation · doi-reference
Gene therapy for leukodystrophy: progress, challenges and opportunities
10.1517/21678707.2016.1151352 · ExternalCitation · doi-reference
Single systemic administration of a gene therapy leading to disease treatment in metachromatic leukodystrophy arsa knock-out mice
10.1523/jneurosci.1829-22.2023 · ExternalCitation · doi-reference
Alexander disease
10.1523/jneurosci.5384-11.2012 · ExternalCitation · doi-reference
D-Aspartate treatment attenuates myelin damage and stimulates myelin repair
10.15252/emmm.201809278 · ExternalCitation · doi-reference
Leukodystrophies in Children: diagnosis, Care, and Treatment
10.1542/peds.2021-053126 · ExternalCitation · doi-reference
Emerging cellular themes in leukodystrophies
10.3389/fcell.2022.902261 · ExternalCitation · doi-reference
CRISPR-dependent base editing as a therapeutic strategy for rare monogenic disorders
10.3389/fgeed.2025.1553590 · ExternalCitation · doi-reference
Metachromatic Leukodystrophy: diagnosis, Modeling, and Treatment Approaches
10.3389/fmed.2020.576221 · ExternalCitation · doi-reference
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: review of Clinical Manifestations as Foundations for Therapeutic Development
10.3389/fneur.2021.788168 · ExternalCitation · doi-reference
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
10.3389/fneur.2023.1219324 · ExternalCitation · doi-reference
Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review
10.3389/fneur.2025.1573052 · ExternalCitation · doi-reference
Dual-function AAV gene therapy reverses late-stage Canavan disease pathology in mice
10.3389/fnmol.2022.1061257 · ExternalCitation · doi-reference
Microbiota gut-brain axis: implications for pediatric-onset leukodystrophies
10.3389/fnut.2024.1417981 · ExternalCitation · doi-reference
Advances of Genome Editing with CRISPR/Cas9 in Neurodegeneration: the Right Path towards Therapy
10.3390/biomedicines11123333 · ExternalCitation · doi-reference
Brain Targeted AAV1-GALC Gene Therapy Reduces Psychosine and Extends Lifespan in a Mouse Model of Krabbe Disease
10.3390/genes14081517 · ExternalCitation · doi-reference
Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: retrospective Study on Predictors of Outcomes
10.3390/pharmaceutics14122778 · ExternalCitation · doi-reference
Gene and Cellular Therapies for Leukodystrophies
10.3390/pharmaceutics15112522 · ExternalCitation · doi-reference
Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease
10.34172/bi.2020.13 · ExternalCitation · doi-reference