Lista de obras - Angela Kaindl - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Acute Disseminated Encephalomyelitis After Human Parechovirus Infection

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2021

Autosomal recessive primary microcephalies (MCPH)

article published in 2009

Autosomal recessive primary microcephalies (MCPH).

artículo científico publicado en 2014

Brain malformations and cognitive performance in spina bifida

artículo científico publicado en 2020

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Common molecular causes for congenital heart defects and microcephaly

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Glutamate antagonists are neurotoxins for the developing brain

artículo científico publicado en 2007

Golgi-Cox Staining Step by Step

artículo científico publicado en 2016

Growth and psychomotor development of patients with Duchenne muscular dystrophy

artículo científico publicado en 2013

High reproducibility of large-gel two-dimensional electrophoresis

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de noviembre de 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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Lacosamide Lowers Valproate and Levetiracetam Levels

artículo científico publicado en 2017

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Many roads lead to primary autosomal recessive microcephaly

artículo científico publicado en 2009

Melatonin promotes oligodendroglial maturation of injured white matter in neonatal rats

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Microcephaly

artículo científico publicado en 2013

Molecular mechanisms involved in injury to the preterm brain

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

Neuronal death and oxidative stress in the developing brain

scientific article published on 20 February 2011

Novel Alternative Splice Variants of Mouse Cdk5rap2.

artículo científico publicado en 2015

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

artículo científico publicado en 2017

Redefining the MED13L syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

Sedative and anticonvulsant drugs suppress postnatal neurogenesis

artículo científico publicado en 2008

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

article

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

The yin and yang of microglia

artículo científico publicado en 2011

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

artículo científico publicado el 21 de noviembre de 2011

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

artículo científico publicado en 2013

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

artículo científico

What's the hype about CDK5RAP2?

artículo científico publicado en 2011

Lista de obras de 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?