List of works - Angela Kaindl

A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing

scientific article published on 31 October 2019

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

scientific article

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies

scientific article

Activation of microglial N-methyl-D-aspartate receptors triggers inflammation and neuronal cell death in the developing and mature brain

scientific article published in October 2012

Acute Disseminated Encephalomyelitis After Human Parechovirus Infection

scientific article

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion

scientific article published on November 2012

Arhgef2 regulates neural differentiation in the cerebral cortex through mRNA m<sup>6</sup>A-methylation of Npdc1 and Cend1

scientific article published on 24 May 2021

Autosomal recessive primary microcephalies (MCPH)

article published in 2009

Autosomal recessive primary microcephalies (MCPH).

scientific article published on 16 April 2014

Brain malformations and cognitive performance in spina bifida

scientific article published on 02 November 2020

Brief alteration of NMDA or GABAA receptor-mediated neurotransmission has long term effects on the developing cerebral cortex

scientific article published on 27 June 2008

CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development

scientific article published on 31 January 2017

CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly

scientific article published on 17 July 2012

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

scientific article

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy

scientific article published on 5 April 2013

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).

scientific article

Common molecular causes for congenital heart defects and microcephaly

scientific article published on 4 October 2009

Comparative proteomics in neurodegenerative and non-neurodegenerative diseases suggest nodal point proteins in regulatory networking

scientific article published in August 2006

Corrigendum: Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

scientific article published on 11 September 2017

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

scientific article

Erythropoietin attenuates hyperoxia-induced cell death by modulation of inflammatory mediators and matrix metalloproteinases

scientific journal article

Erythropoietin protects the developing brain from hyperoxia-induced cell death and proteome changes

scientific article published in November 2008

G protein-coupled receptor kinase 2 and group I metabotropic glutamate receptors mediate inflammation-induced sensitization to excitotoxic neurodegeneration

scientific article published on 14 March 2013

Genetic causes of MCPH in consanguineous Pakistani families

scientific article published on 8 November 2015

Glutamate antagonists are neurotoxins for the developing brain

scientific article published on April 2007

Golgi-Cox Staining Step by Step

scientific article published on 31 March 2016

Growth and psychomotor development of patients with Duchenne muscular dystrophy

scientific article published on 25 September 2013

High reproducibility of large-gel two-dimensional electrophoresis

scientific article published in September 2004

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

scientific journal article

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly

scientific article

Implanted neurosphere-derived precursors promote recovery after neonatal excitotoxic brain injury

scientific article published on 16 January 2011

In utero development of symmetric thalamic and brainstem necrosis in a preterm hydropic stillborn

scientific article published on November 1, 2010

Inflammation processes in perinatal brain damage

scientific article published on 15 May 2010

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism

scientific article

Is microcephaly a so-far unrecognized feature of XYY syndrome?

scientific article published on 31 January 2014

Lacosamide Lowers Valproate and Levetiracetam Levels

scientific article published on 21 March 2017

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

scientific article

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

scientific article

Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes

scientific article published on July 2015

Many roads lead to primary autosomal recessive microcephaly

scientific article

Melatonin promotes oligodendroglial maturation of injured white matter in neonatal rats

scientific article

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome

scientific article

Microcephaly

scientific article

Molecular mechanisms involved in injury to the preterm brain

scientific article published on 15 July 2009

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

scientific article

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

scientific article

NMDA antagonist inhibits the extracellular signal-regulated kinase pathway and suppresses cancer growth

scientific article

Neuronal death and oxidative stress in the developing brain

scientific article published on 20 February 2011

Novel Alternative Splice Variants of Mouse Cdk5rap2.

scientific article published on 31 August 2015

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology

scientific article

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

scientific article published on 29 April 2016

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature

scientific article published on 20 December 2016

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

scientific article

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

scientific article published on 4 July 2017

Redefining the MED13L syndrome

scientific article

Reference genes in the developing murine brain and in differentiating embryonic stem cells

scientific article published on 26 June 2012

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects.

scientific article published on 30 April 2019

Sedative and anticonvulsant drugs suppress postnatal neurogenesis

scientific article

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine

article

Spinal muscular atrophy with respiratory distress type 1 (SMARD1).

scientific article

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice

Subacute proteome changes following traumatic injury of the developing brain: Implications for a dysregulation of neuronal migration and neurite arborization

scientific article published on 6 June 2007

Sulthiame but not levetiracetam exerts neurotoxic effect in the developing rat brain

scientific article

Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses

scientific article published on 23 March 2008

Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

scientific article published on 9 April 2015

The somatostatin 2A receptor is enriched in migrating neurons during rat and human brain development and stimulates migration and axonal outgrowth

scientific article

The yin and yang of microglia

scientific article

Treating Neonates with Levetiracetam: a survey among German University Hospitals ⬇️

scientific article published on November 21, 2011

WITHDRAWN: Is microcephaly a so-far unrecognized feature of XYY syndrome?

retracted scientific article published on 12 September 2013

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

scientific article published on 04 June 2015

What's the hype about CDK5RAP2?

scientific article published on 17 February 2011

List of works by Angela Kaindl

A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies

Activation of microglial N-methyl-D-aspartate receptors triggers inflammation and neuronal cell death in the developing and mature brain

Acute Disseminated Encephalomyelitis After Human Parechovirus Infection

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion

Arhgef2 regulates neural differentiation in the cerebral cortex through mRNA m<sup>6</sup>A-methylation of Npdc1 and Cend1

Autosomal recessive primary microcephalies (MCPH)

Autosomal recessive primary microcephalies (MCPH).

Brain malformations and cognitive performance in spina bifida

Brief alteration of NMDA or GABAA receptor-mediated neurotransmission has long term effects on the developing cerebral cortex

CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development

CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).

Common molecular causes for congenital heart defects and microcephaly

Comparative proteomics in neurodegenerative and non-neurodegenerative diseases suggest nodal point proteins in regulatory networking

Corrigendum: Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

Erythropoietin attenuates hyperoxia-induced cell death by modulation of inflammatory mediators and matrix metalloproteinases

Erythropoietin protects the developing brain from hyperoxia-induced cell death and proteome changes

G protein-coupled receptor kinase 2 and group I metabotropic glutamate receptors mediate inflammation-induced sensitization to excitotoxic neurodegeneration

Genetic causes of MCPH in consanguineous Pakistani families

Glutamate antagonists are neurotoxins for the developing brain

Golgi-Cox Staining Step by Step

Growth and psychomotor development of patients with Duchenne muscular dystrophy

High reproducibility of large-gel two-dimensional electrophoresis

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly

Implanted neurosphere-derived precursors promote recovery after neonatal excitotoxic brain injury

In utero development of symmetric thalamic and brainstem necrosis in a preterm hydropic stillborn

Inflammation processes in perinatal brain damage

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism

Is microcephaly a so-far unrecognized feature of XYY syndrome?

Lacosamide Lowers Valproate and Levetiracetam Levels

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes

Many roads lead to primary autosomal recessive microcephaly

Melatonin promotes oligodendroglial maturation of injured white matter in neonatal rats

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome

Microcephaly

Molecular mechanisms involved in injury to the preterm brain

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

NMDA antagonist inhibits the extracellular signal-regulated kinase pathway and suppresses cancer growth

Neuronal death and oxidative stress in the developing brain

Novel Alternative Splice Variants of Mouse Cdk5rap2.

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

Redefining the MED13L syndrome

Reference genes in the developing murine brain and in differentiating embryonic stem cells

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects.

Sedative and anticonvulsant drugs suppress postnatal neurogenesis

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine

Spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice

Subacute proteome changes following traumatic injury of the developing brain: Implications for a dysregulation of neuronal migration and neurite arborization

Sulthiame but not levetiracetam exerts neurotoxic effect in the developing rat brain

Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses

Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

The somatostatin 2A receptor is enriched in migrating neurons during rat and human brain development and stimulates migration and axonal outgrowth

The yin and yang of microglia

Treating Neonates with Levetiracetam: a survey among German University Hospitals ⬇️

WITHDRAWN: Is microcephaly a so-far unrecognized feature of XYY syndrome?

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

What's the hype about CDK5RAP2?