about
Hypomyelinating leukodystrophies: translational research progress and prospectsEndocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the LiteratureAssessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophyAltered PLP1 splicing causes hypomyelination of early myelinating structures.Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.Plasticity of locomotor sensorimotor interactions after peripheral and/or spinal lesions.Whole exome sequencing in patients with white matter abnormalities.Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada.Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.A case of secondary dystonia responding to levodopa.Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415.The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate.Pediatric leukodystrophies: The role of the otolaryngologist.POLR3A and POLR3B Mutations in Unclassified Hypomyelination.A novel PLP1 mutation further expands the clinical heterogeneity at the locus.A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.4H Leukodystrophy: Lessons from 3T Imaging.TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.Expert opinion and caution are imperative for interpretation of next generation sequencing data.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Mutations in RNF216 do not cause 4H syndromeBiallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyLeukodystrophy-associated mutations down-regulate the RNA polymerase III transcript and important regulatory RNAStudy of cutaneous reflex compensation during locomotion after nerve section in the catDosage effect of a dominant CLCN1 mutation: a novel syndromeThe wobbly child: an approach to inherited ataxiasAtaxia-telangiectasia presenting with a novel immunodeficiencyChylomicron retention disease: dystonia as a new clinical featureA treatable new cause of chorea: beta-ketothiolase deficiencyHealth-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyPostzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeAuthor Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeHSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from QuebecA variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLDystonia in RNA Polymerase III-Related LeukodystrophyPOLR3A variants with striatal involvement and extrapyramidal movement disorderPatient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis
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description
investigador
@es
researcher
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wetenschapper
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name
Geneviève Bernard
@en
Geneviève Bernard
@nl
type
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Geneviève Bernard
@en
Geneviève Bernard
@nl
prefLabel
Geneviève Bernard
@en
Geneviève Bernard
@nl
P31
P496
0000-0002-9634-2966