Marjo S. Van Der Knaap
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Biology
Marjo S. Van Der Knaap's Degrees
- PhD Medical Sciences University of Amsterdam
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(Suggest an Edit or Addition)Marjo S. Van Der Knaap's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly (2005) (486)
- Invited Article: An MRI-based approach to the diagnosis of white matter disorders (2009) (446)
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 (2015) (416)
- A new leukoencephalopathy with vanishing white matter (1997) (368)
- Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (2007) (358)
- Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter (2002) (332)
- Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children (1995) (328)
- Alexander disease: diagnosis with MR imaging. (2001) (313)
- Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain. (1990) (303)
- Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. (2002) (281)
- Ubiquitous L1 Mosaicism in Hippocampal Neurons (2015) (264)
- Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. (2009) (260)
- Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. (2001) (250)
- Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease (2005) (237)
- Magnetic resonance imaging pattern recognition in hypomyelinating disorders. (2010) (236)
- Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. (1999) (223)
- Progress in understanding 2-hydroxyglutaric acidurias (2012) (220)
- MR patterns of hypoxic-ischemic brain damage after prenatal, perinatal or postnatal asphyxia. (2000) (203)
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. (2012) (201)
- Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms (2017) (194)
- Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (2010) (186)
- A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate (2003) (182)
- IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria (2010) (179)
- The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature (2015) (176)
- Novel (ovario) leukodystrophy related to AARS2 mutations (2014) (165)
- A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. (2013) (161)
- Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. (2013) (159)
- Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection. (2004) (159)
- Case definition and classification of leukodystrophies and leukoencephalopathies. (2015) (157)
- Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (2011) (156)
- eIF2B-related disorders: antenatal onset and involvement of multiple organs. (2003) (156)
- Leukoencephalopathy With Vanishing White Matter: A Review (2010) (156)
- Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. (2000) (149)
- Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. (2010) (142)
- Normal gyration and sulcation in preterm and term neonates: appearance on MR images. (1996) (141)
- Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations (2014) (140)
- Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study (2012) (139)
- Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities (1997) (139)
- A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. (2015) (137)
- Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course (1996) (135)
- Clinical and mutational spectrum of Mowat-Wilson syndrome. (2005) (135)
- Neonatal porencephaly and adult stroke related to mutations in collagen IV A1 (2006) (135)
- Phenotypic variation in leukoencephalopathy with vanishing white matter (1998) (133)
- New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. (2002) (128)
- Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. (2004) (124)
- Unusual variants of Alexander's disease (2005) (123)
- 1H and 31P magnetic resonance spectroscopy of the brain in degenerative cerebral disorders (1992) (117)
- Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III (2015) (116)
- Mutations Linked to Leukoencephalopathy with Vanishing White Matter Impair the Function of the Eukaryotic Initiation Factor 2B Complex in Diverse Ways (2004) (114)
- Phenotype and genotype in 101 males with X-linked creatine transporter deficiency (2013) (114)
- GAMT deficiency (2006) (113)
- Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. (2013) (112)
- Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings (2012) (112)
- Whole exome sequencing in patients with white matter abnormalities (2016) (109)
- Defective Glial Maturation in Vanishing White Matter Disease (2011) (108)
- MLC1: a novel protein in distal astroglial processes. (2005) (107)
- Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. (2001) (106)
- Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases (2012) (105)
- An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study (2010) (102)
- Glia-Specific Activation of All Pathways of the Unfolded Protein Response in Vanishing White Matter Disease (2006) (101)
- Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (2008) (100)
- The Unfolded Protein Response in Vanishing White Matter Disease (2005) (99)
- MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy. (2004) (98)
- Astrocytes are central in the pathomechanisms of vanishing white matter. (2016) (96)
- Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (2016) (95)
- Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts (2002) (95)
- Alexander disease (2006) (94)
- Molecular findings in symptomatic and pre-symptomatic Alexander disease patients (2002) (93)
- Early MR features of hypoxic-ischemic brain injury in neonates with periventricular densities on sonograms. (2000) (93)
- The latest on leukodystrophies (2004) (93)
- Classification of congenital abnormalities of the CNS. (1988) (92)
- L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. (2009) (91)
- Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. (2014) (91)
- Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect (2000) (90)
- Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (2011) (89)
- Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly (2008) (87)
- Mutations in RARS cause hypomyelination (2014) (87)
- Development of spontaneous leg movements in infants with and without periventricular leukomalacia (2000) (87)
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. (2014) (86)
- Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids (2000) (85)
- Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia (2006) (84)
- Vanishing white matter disease: a review with focus on its genetics. (2006) (84)
- An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. (1998) (84)
- Childhood white matter disorders: quantitative MR imaging and spectroscopy. (2006) (83)
- Leukoencephalopathy associated with a disturbance in the metabolism of polyols (1999) (81)
- NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern (2013) (81)
- Magnetic resonance imaging of the brain in premature infants during the neonatal period. Normal phenomena and reflection of mild ultrasound abnormalities. (1998) (78)
- Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance (2008) (78)
- The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease. (1989) (76)
- Update on Leukodystrophies: A Historical Perspective and Adapted Definition (2016) (76)
- Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1 (2006) (75)
- The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. (1999) (75)
- Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease. (2013) (74)
- Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. (2000) (74)
- Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. (2005) (73)
- Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations (2009) (71)
- Recognizable phenotypes associated with intracranial calcification (2013) (70)
- Clinical features and X‐inactivation in females heterozygous for creatine transporter defect (2011) (69)
- Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter (1999) (68)
- Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. (2003) (68)
- D‐2‐Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? (1999) (68)
- Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. (2011) (66)
- Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. (2008) (65)
- Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes (2011) (65)
- Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion (2009) (65)
- Diffusion-weighted MRI in severe neonatal hypoxic ischaemia: the white cerebrum. (2003) (64)
- Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. (2005) (63)
- Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations (2014) (63)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. (2012) (63)
- Predictive value of neonatal MRI with respect to late MRI findings and clinical outcome. A study in infants with periventricular densities on neonatal ultrasound. (2005) (61)
- Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2014) (61)
- Childhood presentation of COL4A1 mutations (2012) (60)
- MRI assessment of myelination of motor and sensory pathways in the brain of preterm and term-born infants. (1997) (60)
- Transient cerebral white matter lesions in a patient with connexin 32 missense mutation (2002) (59)
- Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families (2005) (59)
- Fright is a provoking factor in vanishing white matter disease (2005) (58)
- DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder (2015) (58)
- A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. (2010) (57)
- Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? (2000) (55)
- Megalencephalic leukoencephalopathy with cysts without MLC1 defect (2010) (55)
- Arg113His mutation in eIF2Bε as cause of leukoencephalopathy in adults (2004) (55)
- MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet (2007) (55)
- Diffuse hypomyelination is not obligate for POLR3-related disorders (2016) (54)
- Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI. (2011) (54)
- Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. (2018) (53)
- Hypomyelination with atrophy of the basal ganglia and cerebellum (2007) (53)
- Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle (2015) (53)
- A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy (2017) (53)
- Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect (2011) (52)
- LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. (2016) (52)
- Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL) (2016) (51)
- Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings. (2005) (50)
- TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes (2017) (49)
- TUBB4A de novo mutations cause isolated hypomyelination (2014) (49)
- The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction (2004) (49)
- Genotype–phenotype correlation in vanishing white matter disease (2010) (49)
- Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. (2004) (48)
- Natural History of Vanishing White Matter (2018) (48)
- MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency. (1998) (47)
- Vanishing white matter: a leukodystrophy due to astrocytic dysfunction (2018) (47)
- Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF (2004) (46)
- Adult‐onset leukoencephalopathy with vanishing white matter presenting with dementia (2001) (46)
- Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. (2016) (46)
- Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. (2013) (46)
- Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). (2003) (45)
- Predictive value of neonatal MRI as compared to ultrasound in premature infants with mild periventricular white matter changes. (1999) (44)
- Early-Onset LBSL: How Severe Does It Get? (2012) (44)
- COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification (2011) (43)
- Defective translation initiation causes vanishing of cerebral white matter. (2006) (43)
- Megalencephalic leukoencephalopathy with subcortical cysts (2018) (43)
- Hypomyelinating leukodystrophies — unravelling myelin biology (2020) (43)
- Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five Genes (2003) (43)
- Central Cortico‐Subcortical Involvement: A Distinct Pattern of Brain Damage Caused by Perinatal and Postnatal Asphyxia in Term Infants (1995) (42)
- Vanishing white matter: deregulated integrated stress response as therapy target (2019) (42)
- Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus (2014) (42)
- Megalencephalic leukoencephalopathy with cysts: the Glialcam‐null mouse model (2017) (42)
- Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene (2010) (41)
- DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. (2008) (41)
- Phenotypic characterization of hypomyelination and congenital cataract (2007) (40)
- Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. (2004) (40)
- Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency. (2000) (40)
- Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate (2006) (39)
- Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. (2004) (39)
- Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy. (2013) (39)
- MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course. (2008) (39)
- A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination (2017) (38)
- Disease specific therapies in leukodystrophies and leukoencephalopathies. (2015) (38)
- Recessive ITPA mutations cause an early infantile encephalopathy (2015) (37)
- X‐linked hereditary motor sensory neuropathy (type 1) presenting with a stroke‐like episode (2010) (37)
- GLUT1 deficiency with delayed myelination responding to ketogenic diet. (2007) (36)
- Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival (2004) (36)
- Magnetic resonance in childhood white-matter disorders. (2001) (35)
- Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. (2017) (34)
- Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways. (2013) (34)
- Splice site, frameshift, and chimeric GFAP mutations in Alexander disease (2012) (34)
- Leukoencephalopathy with vanishing white matter: (2003) (34)
- Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. (2007) (33)
- Correlating Quantitative MR Imaging with Histopathology in X-Linked Adrenoleukodystrophy (2011) (33)
- Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy (2019) (32)
- A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21 (2005) (32)
- MRI as diagnostic tool in early-onset peroxisomal disorders (2012) (32)
- Atypical MRI findings in Canavan disease: a patient with a mild course. (2005) (32)
- Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (2018) (31)
- Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. (2010) (31)
- Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy (2016) (31)
- Genetic defects disrupting glial ion and water homeostasis in the brain (2018) (30)
- Effect of homocysteine‐lowering treatment with folic acid plus vitamin B6 on cerebrovascular atherosclerosis and white matter abnormalities as determined by MRA and MRI: a placebo‐controlled, randomized trial (2004) (30)
- Muscle 3243A→G mutation load and capacity of the mitochondrial energy‐generating system (2008) (30)
- Altered PLP1 splicing causes hypomyelination of early myelinating structures (2015) (30)
- Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter (2009) (29)
- Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction (2020) (28)
- A novel complex neurological phenotype due to a homozygous mutation in FDX2 (2018) (28)
- CSF and Blood Levels of GFAP in Alexander Disease (2015) (28)
- Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy (2016) (28)
- Characteristics of Early MRI in Children and Adolescents with Vanishing White Matter (2012) (28)
- Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. (2011) (27)
- Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. (2020) (27)
- Cerebral white matter abnormalities in 6p25 deletion syndrome. (2006) (26)
- Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder (2008) (26)
- Archetypal and new families with Alexander disease and novel mutations in GFAP. (2012) (26)
- A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria. (2011) (26)
- Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment (2018) (26)
- UFM1 founder mutation in the Roma population causes recessive variant of H-ABC (2017) (26)
- Quantitative MR imaging and spectroscopy in congenital cytomegalovirus infection and periventricular leukomalacia suggests a comparable neuropathological substrate of the cerebral white matter lesions. (2009) (26)
- Acute fright induces onset of symptoms in vanishing white matter disease-case report. (2006) (25)
- Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism. (2004) (25)
- Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants (2019) (25)
- Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects (2016) (25)
- Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy (2019) (24)
- Leukodystrophies: Five new things. (2016) (23)
- Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. (2005) (23)
- Comparison of Skull Circumference and Linear Measurements with CSF Volume MR Measurements in Hydrocephalus (1992) (23)
- Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. (2020) (23)
- Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter (2004) (22)
- Interferon-α and the calcifying microangiopathy in Aicardi–Goutières syndrome (2015) (22)
- Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. (2012) (22)
- Genome sequencing in persistently unsolved white matter disorders (2020) (22)
- Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene (2018) (21)
- D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings (2002) (21)
- Unilateral thalamic lesions in premature infants: risk factors and short-term prognosis. (1999) (21)
- Early and lethal neurodegeneration with myasthenic and myopathic features (2017) (20)
- Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. (2012) (20)
- Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes (2015) (20)
- Early-Onset Aicardi-Goutières Syndrome (2014) (20)
- Hypomyelination versus delayed myelination (2009) (20)
- Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation. (2015) (19)
- Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter (2019) (19)
- Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall (2000) (19)
- POLR3A variants with striatal involvement and extrapyramidal movement disorder (2020) (19)
- White matter disorders. (1991) (18)
- A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. (2013) (18)
- Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL (2015) (18)
- Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing (2013) (18)
- Hypomyelination and congenital cataract: broadening the clinical phenotype. (2011) (18)
- Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. (2011) (18)
- Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy (2018) (17)
- Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy (2015) (17)
- Cerebellar leukoencephalopathy (2008) (17)
- Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic (2018) (16)
- POLR3A and POLR3B Mutations in Unclassified Hypomyelination (2015) (16)
- Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance. (2017) (16)
- Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment (2017) (16)
- Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy (2015) (16)
- Cortical laminar abnormalities--occurrence and clinical significance. (1993) (16)
- Restricted diffusion in vanishing white matter. (2012) (16)
- MR of adrenoleukodystrophy: histopathologic correlations. (1989) (16)
- Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter (2017) (16)
- 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. (2017) (15)
- RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum (2019) (15)
- Axonal abnormalities in vanishing white matter (2018) (15)
- Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate (2011) (15)
- Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. (2012) (15)
- Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. (2015) (14)
- Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase. (2004) (14)
- Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations (2017) (14)
- AGC1 deficiency and cerebral hypomyelination. (2009) (14)
- Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C (2020) (14)
- Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter (2019) (14)
- GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay (2018) (14)
- D‐2‐hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses (2003) (13)
- Quantitative MRI in hypomyelinating disorders (2016) (13)
- Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases. (2006) (13)
- Childhood Lymphomatoid Granulomatosis: A Report of 2 Cases and Review of the Literature (2014) (13)
- Kearns‐Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy (1993) (13)
- Imaging Patterns Characterizing Mitochondrial Leukodystrophies (2021) (12)
- Vanishing white matter disease in a child presenting with ataxia (2005) (12)
- Clinical presentations of patients with polyol abnormalities. (2004) (12)
- Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome (2019) (12)
- 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System (2017) (12)
- Alexander disease with periventricular calcification: a novel mutation of the GFAP gene (2010) (12)
- Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy (2018) (12)
- Diffusion tensor imaging in metachromatic leukodystrophy (2018) (11)
- Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy (2006) (11)
- Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations (2021) (11)
- Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Third Confirmed Case with Literature Review (2009) (11)
- Value of fluid-attenuated inversion recovery sequences in early MRI of the brain in neonates with a perinatal hypoxic-ischemic encephalopathy (2000) (11)
- Acute intermittent porphyria-related leukoencephalopathy (2016) (11)
- Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. (2014) (10)
- Leukoencephalopathy with vanishing white matter presenting with presenile dementia (2009) (10)
- Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders (2020) (10)
- Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions (2017) (10)
- Stem cell therapy for white matter disorders: don’t forget the microenvironment! (2016) (10)
- Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy. (2018) (10)
- Alexander Disease (2017) (10)
- Not a New Leukodystrophy but Congenital Cytomegalovirus Infection (2005) (10)
- Unusual Diagnosis in a Child Suffering From Juvenile Alexander Disease: Clinical and Imaging Report (2006) (10)
- 4H Leukodystrophy: Lessons from 3T Imaging (2017) (10)
- A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? (2000) (10)
- Intrathecal baclofen in metachromatic leukodystrophy (2018) (9)
- Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy (2021) (9)
- Bergmann glia translocation: a new disease marker for Vanishing White Matter identifies therapeutic effects of Guanabenz treatment. (2017) (9)
- Heterogeneity of white matter astrocytes in the human brain (2021) (9)
- Is hearing loss a feature of Joubert syndrome, a ciliopathy? (2010) (9)
- Biallelic PI4KA variants cause neurological, intestinal and immunological disease (2021) (9)
- A brother and sister with intellectual disability and characteristic neuroimaging findings. (2018) (9)
- Leukodystrophies — much more than just diseases of myelin (2018) (9)
- Familial Hemophagocytic Lymphohistiocytosis in a Pediatric Patient Diagnosed by Brain Magnetic Resonance Imaging (2011) (8)
- Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro (2018) (8)
- Vanishing white matter disease associated with progressive macrocephaly. (2008) (8)
- Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings (2018) (8)
- No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis (2008) (8)
- D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants (2019) (8)
- Expanded phenotype of AARS1-related white matter disease (2021) (8)
- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. (2019) (7)
- MRI Natural History of the Leukodystrophy Vanishing White Matter. (2021) (7)
- Childhood white matter disorders: much more than just diseases of myelin (2017) (7)
- Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? (2015) (7)
- Effectiveness of Selective Dorsal Rhizotomy in 2 Patients With Progressive Spasticity Due to Neurodegenerative Disease (2008) (7)
- Atypical presentation of vanishing white matter disease. (2008) (7)
- Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures (2011) (7)
- Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings (2017) (7)
- Selective Vulnerability in Toxic Encephalopathies and Metabolic Disorders (1996) (6)
- Not a new leukodystrophy but congenital cytomegalovirus infection. (2005) (6)
- Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease (2017) (6)
- Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8. (2006) (6)
- Confirmation of a rare genetic leukoencephalopathy due to a novel Bi-allelic variant in RPIA. (2019) (6)
- Alexander disease: early presence of cerebral MRI criteria. (2009) (6)
- Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome. (2011) (6)
- Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy (2017) (6)
- Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients (2020) (6)
- Microphthalmia and brain atrophy: A novel neurodegenerative disease (2006) (6)
- LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. (2021) (5)
- Vanishing White Matter Disease: The First Reported Chinese Patient (2008) (5)
- Teaching NeuroImages: MRI guides genetics (2013) (5)
- [Kernicterus in a full-term male infant a few days old]. (2002) (5)
- DTYMK is essential for genome integrity and neuronal survival (2021) (5)
- Imaging in X-Linked Adrenoleukodystrophy (2021) (5)
- Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy. (2014) (5)
- Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins. (1994) (5)
- Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. (2015) (5)
- Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. (2010) (4)
- Infantile-Onset Alexander Disease (2013) (4)
- A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. (2011) (4)
- A Novel GJC2 Mutation Associated with Hypomyelination and Müllerian Agenesis Syndrome: Coincidence or a New Entity? (2012) (4)
- Effects of Dietary Supplementation of Long-Chain Polyunsaturated Fatty Acids (LC-PUFA'S) on Brain Myelination and Maturation of the Visual System in Preterm Infants (1999) (4)
- Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy. (2022) (4)
- Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy (2020) (3)
- Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series (2020) (3)
- Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy (2022) (3)
- Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease (2021) (3)
- Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy (2022) (3)
- Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy (2021) (3)
- Long-term tremor control with bilateral Vim-DBS in vanishing white matter disease. (2012) (3)
- Non‐eIF2B–related cystic leukoencephalopathy of unknown origin (2006) (3)
- Integrated Stress Response Deregulation underlies Vanishing White Matter and is a target for therapy (2018) (3)
- Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited. (2015) (3)
- Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency (2022) (3)
- [From gene to disease; a defect in the regulation of protein production leading to vanishing white matter]. (2002) (3)
- Walking and periventricular leukomalacia: locomotor characteristics and brain imaging (MRI). (2008) (3)
- [Diagnostic imaging of brain maturation in premature infants]. (2001) (3)
- Pathology of the neurovascular unit in leukodystrophies (2021) (3)
- Therapy Trial Design in Vanishing White Matter (2022) (3)
- Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers (2013) (2)
- Plasmacytoid dendritic cells and interferon-alpha in Aicardi-Goutières syndrome. (2007) (2)
- Neonatal quantitative electroencephalography and long‐term outcomes: a systematic review (2021) (2)
- Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1 (2022) (2)
- Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services. (2022) (2)
- Progress in MR Pattern Recognition of Unclassified white Matter Disorders (1996) (2)
- Five men with arresting and relapsing cerebral adrenoleukodystrophy (2020) (2)
- Not all cystic leukoencephalopathies are "vanishing white matter". (2011) (2)
- Neuron‐specific translational control shift ensures proteostatic resilience during ER stress (2022) (2)
- Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter. (2007) (2)
- Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. (2017) (1)
- Patient with unilateral white matter involvement does not have Krabbe disease. (2011) (1)
- Forget About "van der Knaap syndrome," forget about glycine. (2003) (1)
- Author response: Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL) (2017) (1)
- Positive genetic analysis provides the ultimate diagnostic confirmation (2006) (1)
- Human and mouse iPSC-derived astrocyte subtypes reveal vulnerability in Vanishing White Matter (2019) (1)
- Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy (2022) (1)
- Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. (2018) (1)
- Reply to “Type I IFN Signature in NOTCH1‐Related Leukoencephalopathy” (2023) (1)
- Translation initiation factor eIF2Bε promotes Wnt-mediated clonogenicity and global translation in intestinal epithelial cells. (2021) (1)
- Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema. (2023) (0)
- Author response: Acute intermittent porphyria-related leukoencephalopathy (2017) (0)
- [NMR diagnosis of tuberous sclerosis]. (1989) (0)
- Early-onset vascular leukoencephalopathy caused by bi-allelic NOTCH3 variants (2022) (0)
- Expanding the Spectrum of NUBPL -Related Leukodystrophy (2022) (0)
- A novel role for MLC1 in regulating astrocyte-synapse interactions. (2023) (0)
- Pathology of the neurovascular unit in leukodystrophies (2021) (0)
- Therapeutic potential of human stem cell transplantations for Vanishing White Matter: A quest for the Goldilocks graft (2022) (0)
- Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic (2018) (0)
- Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy” (2011) (0)
- Mystery Case: Baló concentric sclerosis (2013) (0)
- Reply: (2022) (0)
- Erratum to: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts (2014) (0)
- Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy (2018) (0)
- Rapidly progressive dementias — leukodystrophies as a potentially treatable cause (2022) (0)
- Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver (2020) (0)
- Encefalopatie tossiche (1993) (0)
- POLR3A variants with striatal involvement and extrapyramidal movement disorder (2020) (0)
- Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro (2018) (0)
- Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain (2020) (0)
- Cortical Pathology in Vanishing White Matter (2022) (0)
- A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy (2014) (0)
- Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene (2014) (0)
- [Alexander disease as an explanation for long-term unexplained psychiatric symptoms in a young girl]. (2020) (0)
- N-acetylaspartylglutamate in CNS hypomyelination. (2011) (0)
- Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations (2021) (0)
- Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? (2020) (0)
- LBSL (2021) (0)
- Toxic encephalopathy. (1992) (0)
- P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants (2019) (0)
- In vivo targeting of a variant causing vanishing white matter using CRISPR/Cas9 (2022) (0)
- Radiological correlates of episodes of acute decline in the leukodystrophy vanishing white matter (2022) (0)
- Reply to: The many faces of TUBB4A mutations (2014) (0)
- Erratum to: Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in the TUBB4A gene (2014) (0)
- 12 Clinical and radiological features of COL4A1 disease (2011) (0)
- [Nuclear resonance tomography of the central nervous system; a good use of the possibilities]. (1989) (0)
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