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Golgipathies in Neurodevelopment: A New View of Old Defects

Developmental neuroscience, 2018, Vol.40 (5-6), p.396-416

2018

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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

American journal of human genetics, 2016-08, Vol.99 (2), p.451-459

2016

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Endoplasmic reticulum and Golgi stress in microcephaly

Cell Stress, 2019-10, Vol.3 (12), p.369-384

2019

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ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

Cell death & disease, 2016-10, Vol.7 (10), p.e2440-e2440

2016

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Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development

Nature communications, 2022-12, Vol.13 (1), p.7397-7397, Article 7397

2022

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Cortical Organoids to Model Microcephaly

Cells (Basel, Switzerland), 2022-07, Vol.11 (14), p.2135

2022

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Golgi Dysfunctions in Ciliopathies

Cells (Basel, Switzerland), 2022-09, Vol.11 (18), p.2773

2022

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Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies"

Progress in neurobiology, 2017-06, Vol.153 (3), p.46-63

2017

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Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits

Proceedings of the National Academy of Sciences - PNAS, 2008-10, Vol.105 (43), p.16779-16784

2008

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Stem cell therapy for neonatal brain injury: Perspectives and Challenges

Annals of neurology, 2011-11, Vol.70 (5), p.698-712

2011

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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

American journal of human genetics, 2016-08, Vol.99 (2), p.511-520

2016

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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Journal of medical genetics, 2020-06, Vol.57 (6), p.389-399

2020

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STIL balancing primary microcephaly and cancer

Cell death & disease, 2018-01, Vol.9 (2), p.65-11, Article 65

2018

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Neurological outcome in WDR62 primary microcephaly

Developmental medicine and child neurology, 2022-04, Vol.64 (4), p.509-517

2022

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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

Human molecular genetics, 2000-03, Vol.9 (5), p.813-819

2000

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Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures

The Journal of neuroscience, 2015-08, Vol.35 (34), p.11960-11975

2015

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Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

European journal of human genetics : EJHG, 2006-03, Vol.14 (3), p.289-298

2006

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Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

Human molecular genetics, 2005-11, Vol.14 (21), p.3263-3269

2005

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Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly

Cell death & disease, 2018-11, Vol.9 (12), p.1155-1, Article 1155

2018

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Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.421-426

2006

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

Stem cells and development, 2011-05, Vol.20 (5), p.865-879

2011

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Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

Journal of neuropathology and experimental neurology, 2007-09, Vol.66 (9), p.838-847

2007

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The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Human molecular genetics, 2009-02, Vol.18 (3), p.440-453

2009

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Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

Annals of clinical and translational neurology, 2014-12, Vol.1 (12), p.968-981

2014

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Golgipathies in Neurodevelopment: A New View of Old Defects

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Endoplasmic reticulum and Golgi stress in microcephaly

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development

Cortical Organoids to Model Microcephaly

Golgi Dysfunctions in Ciliopathies

Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies"

Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits

Stem cell therapy for neonatal brain injury: Perspectives and Challenges

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

STIL balancing primary microcephaly and cancer

Neurological outcome in WDR62 primary microcephaly

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia

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

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

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