Nadia BAHI-BUISSON | Institut Imagine

Presentation

Nadia BAHI-BUISSON

Genetics and development of the cerebral cortex

Contact :

nadia.bahi-buisson@inserm.fr

About

Scientific Publications

Publications

2025

Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregu..., Springer Science and Business Media LLC
2025

Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical ..., Development
2024

De novo monoallelic Reelin missense variants cause dominant neuronal migratio..., J Clin Invest
2023

A human dynein heavy chain mutation impacts cortical progenitor cells causing..., Neurobiol Dis
2023

Activation of the PI3K/AKT/mTOR Pathway in Cajal-Retzius Cells Leads to Their..., Int J Mol Sci
2022

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary..., J Vis Exp
2021

Human neuropathology confirms projection neuron and interneuron defects and d..., Eur J Med Genet
2020

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun
2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
2019

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with p..., Brain
2019

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of..., Cell Rep
2019

Heterogeneous clinical phenotypes and cerebral malformations reflected by rot..., Brain
2018

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypopl..., Neuron
2018

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalo..., Neurol Genet
2018

Further refinement of COL4A1 and COL4A2 related cortical malformations., Eur J Med Genet
2018

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet
2018

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet
2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain
2018

Next generation phenotyping using narrative reports in a rare disease clinica..., Orphanet J Rare Dis
2018

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recess..., Eur J Med Genet
2017

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain
2017

Finding patients using similarity measures in a rare diseases-oriented clinic..., J Biomed Inform
2017

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela..., J Neuropathol Exp Neurol
2017

Prenatal and postnatal presentations of corpus callosum agenesis with polymic..., Am J Med Genet A
2016

A novel recurrent LIS1 splice site mutation in classic lissencephaly., Am J Med Genet A
2016

Recurrent KIF2A mutations are responsible for classic lissencephaly., Neurogenetics
2016

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics
2016

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis
2016

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ..., Am J Hum Genet
2016

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet
2015

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patie..., Diabetes Care
2015

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics
2010

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 m..., J Mol Med (Berl)

Faire un don

Presentation

About

Scientific Publications

Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregu..., Springer Science and Business Media LLC

Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical ..., Development

De novo monoallelic Reelin missense variants cause dominant neuronal migratio..., J Clin Invest

A human dynein heavy chain mutation impacts cortical progenitor cells causing..., Neurobiol Dis

Activation of the PI3K/AKT/mTOR Pathway in Cajal-Retzius Cells Leads to Their..., Int J Mol Sci

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary..., J Vis Exp

Human neuropathology confirms projection neuron and interneuron defects and d..., Eur J Med Genet

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with p..., Brain

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of..., Cell Rep

Heterogeneous clinical phenotypes and cerebral malformations reflected by rot..., Brain

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypopl..., Neuron

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalo..., Neurol Genet

Further refinement of COL4A1 and COL4A2 related cortical malformations., Eur J Med Genet

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain

Next generation phenotyping using narrative reports in a rare disease clinica..., Orphanet J Rare Dis

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recess..., Eur J Med Genet

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain

Finding patients using similarity measures in a rare diseases-oriented clinic..., J Biomed Inform

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela..., J Neuropathol Exp Neurol

Prenatal and postnatal presentations of corpus callosum agenesis with polymic..., Am J Med Genet A

A novel recurrent LIS1 splice site mutation in classic lissencephaly., Am J Med Genet A

Recurrent KIF2A mutations are responsible for classic lissencephaly., Neurogenetics

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ..., Am J Hum Genet

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patie..., Diabetes Care

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 m..., J Mol Med (Berl)