Search Results - "Kaindl, Angela M."
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Golgi-Cox Staining Step by Step
Published in Frontiers in neuroanatomy (31-03-2016)“…Golgi staining remains a key method to study neuronal morphology in vivo. Since most protocols delineating modifications of the original staining method lack…”
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Immunofluorescence Staining of Paraffin Sections Step by Step
Published in Frontiers in neuroanatomy (09-11-2020)“…Immunofluorescence staining is the most frequently applied technique to detect and visualize various molecules in biological samples. Many protocols can be…”
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Neuronal death and oxidative stress in the developing brain
Published in Antioxidants & redox signaling (15-04-2011)“…The developing brain is particularly vulnerable to reactive oxygen and reactive nitrogen species-mediated damage because of its high concentrations of…”
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The yin and yang of microglia
Published in Developmental neuroscience (01-01-2011)“…Microglia, the resident immune cells of the mammalian central nervous system (CNS), play a pivotal role in both physiological and pathological conditions such…”
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Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature
Published in Developmental medicine and child neurology (01-08-2014)“…Aim The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying…”
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Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
Published in Frontiers in cell and developmental biology (17-01-2022)“…Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy…”
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Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system
Published in Nature communications (09-04-2015)“…How the brain’s antioxidant defenses adapt to changing demand is incompletely understood. Here we show that synaptic activity is coupled, via the NMDA receptor…”
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Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome
Published in Human molecular genetics (15-10-2018)“…Abstract Human telomeres and adjacent subtelomeres are packaged as heterochromatin. Subtelomeric DNA undergoes methylation during development by DNA…”
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Corticosteroids in childhood epilepsies: A systematic review
Published in Frontiers in neurology (10-03-2023)“…Corticosteroids have been used for the treatment of patients with epilepsy for more than 6 decades, based on the hypothesis of inflammation in the genesis…”
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What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)
Published in Molecular and cellular probes (01-10-2015)“…The impact that next-generation sequencing technology (NGS) is having on many aspects of molecular and cell biology, is becoming increasingly apparent. One of…”
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Activation of microglial N-methyl-D-aspartate receptors triggers inflammation and neuronal cell death in the developing and mature brain
Published in Annals of neurology (01-10-2012)“…Objective: Activated microglia play a central role in the inflammatory and excitotoxic component of various acute and chronic neurological disorders. However,…”
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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
Published in Journal of human genetics (01-11-2020)“…Abstract Mutations in the cytoplasmic dynein 1 heavy chain gene ( DYNC1H1 ) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD)…”
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Many roads lead to primary autosomal recessive microcephaly
Published in Progress in neurobiology (01-03-2010)“…Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia vera, is a genetically and clinically heterogeneous disease…”
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Abnormal brain structure and behavior in MyD88-deficient mice
Published in Brain, behavior, and immunity (01-01-2021)“…•The central TLR/IL-1R signaling adaptor MyD88 modulates neocortical structure.•MyD88-deficiency affects neuronal branching.•MyD88 expression modulates mouse…”
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Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation
Published in eLife (06-08-2016)“…Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of…”
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Treatment of pediatric convulsive status epilepticus
Published in Frontiers in neurology (29-06-2023)“…Status epilepticus is one of the most common life-threatening neurological emergencies in childhood with the highest incidence in the first 5 years of life and…”
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A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing
Published in PLoS genetics (31-10-2019)“…Malfunction of pre-mRNA processing factors are linked to several human diseases including cancer and neurodegeneration. Here we report the identification of a…”
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Real-World Experience Treating Pediatric Epilepsy Patients With Cenobamate
Published in Frontiers in neurology (12-07-2022)“…Introduction In one third of all patients with epilepsy, seizure freedom is not achieved through anti-seizure medication (ASM). These patients have an…”
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Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly
Published in Frontiers in neurology (09-02-2023)“…Nucleoporin (NUP) 85 is a member of the Y-complex of nuclear pore complex (NPC) that is key for nucleocytoplasmic transport function, regulation of mitosis,…”
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Sedative and anticonvulsant drugs suppress postnatal neurogenesis
Published in Annals of neurology (01-10-2008)“…Objective Sedative and anticonvulsant drugs, which inhibit N‐methyl‐D‐aspartate receptor–mediated excitation or enhance GABA‐mediated action, may cause…”
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