Camille Maillard

发表

Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.

A. Laquérriere, N. Bahi-Buisson, J. Martinovic, 2021, European journal of medical genetics.

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations

F. Chapon, A. Laquérriere, J. Chelly, 2017, Journal of neuropathology and experimental neurology.

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

A. Munnich, N. Boddaert, T. Kleefstra, 2018, European journal of medical genetics.

Delineating FOXG1 syndrome

E. Haan, D. Lev, F. Rivier, 2018, Neurology: Genetics.

Tubulin mutations in human neurodevelopmental disorders.

A. Laquérriere, J. Steffann, Charles-Joris Roux, 2022, Seminars in cell & developmental biology.

Mutations in the Heterotop ia Gene Eml 1 / EML 1 Severely Disrupt the Formation of Primary Cilia Graphical

G. Mancini, A. Boland, A. Houllier, 2019 .

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

N. Boddaert, A. Verloes, P. Nitschké, 2017, Brain : a journal of neurology.

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

G. Mancini, A. Boland, A. Houllier, 2019, Cell reports.

Capturing the pathomechanisms of different disease severities in a human cerebral organoid model of LIS1-lissencephaly

N. Bahi-Buisson, F. Francis, A. Jabali, 2022, bioRxiv.

Recurrent KIF2A mutations are responsible for classic lissencephaly

C. Bole-Feysot, J. Steffann, J. Pedespan, 2017, neurogenetics.

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

N. Boddaert, A. Millischer, D. Moshous, 2017, American journal of medical genetics. Part A.

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

N. Boddaert, P. Nitschké, M. Hully, 2018, European journal of medical genetics.

A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture

M. Selloum, C. Cifuentes-Díaz, N. Bahi-Buisson, 2023, Neurobiology of Disease.

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

N. Boddaert, L. Salomon, P. Nitschké, 2018, European journal of medical genetics.

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

S. Saunier, Nicolas Goudin, N. Bahi-Buisson, 2022, Journal of visualized experiments : JoVE.

A novel recurrent LIS1 splice site mutation in classic lissencephaly

N. Boddaert, J. Chelly, J. Steffann, 2017, American journal of medical genetics. Part A.