Articles with public access mandates - nathalie boddaertLearn more
Not available anywhere: 21
Review
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
N Bahi-Buisson, K Poirier, N Boddaert, Y Saillour, L Castelnau, N Philip, ...
Journal of medical genetics 45 (10), 647-653, 2008
Mandates: National Institute of Health and Medical Research, France
Review
Neurobehavioral profile and brain imaging study of the 22q13. 3 deletion syndrome in childhood
A Philippe, N Boddaert, L Vaivre-Douret, L Robel, L Danon-Boileau, ...
Pediatrics 122 (2), e376-e382, 2008
Mandates: National Institute of Health and Medical Research, France
Review
Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation
D Castel, T Kergrohen, A Tauziède-Espariat, A Mackay, S Ghermaoui, ...
Acta neuropathologica 139, 1109-1113, 2020
Mandates: National Institute for Health Research, UK
Review
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
N Bahi-Buisson, J Nectoux, B Girard, H Van Esch, T De Ravel, ...
Neurogenetics 11, 241-249, 2010
Mandates: National Institute of Health and Medical Research, France
Review
EANO–EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma
E Franceschi, S Hofer, AA Brandes, D Frappaz, RD Kortmann, ...
The Lancet Oncology 20 (12), e715-e728, 2019
Mandates: Cancer Research UK, Brain Tumour Charity, UK
Review
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
C Thauvin‐Robinet, S Thomas, M Sinico, B Aral, L Burglen, N Gigot, ...
Clinical Genetics 84 (1), 2013
Mandates: Fondazione Telethon, Italy
Review
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations
M Bricout, D Grévent, AS Lebre, M Rio, I Desguerre, P De Lonlay, ...
Journal of medical genetics 51 (7), 429-435, 2014
Mandates: National Institute of Health and Medical Research, France
Review
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
CM Bérat, S Montealegre, A Wiedemann, MLC Nuzum, A Blondel, ...
Journal of Inherited Metabolic Disease 44 (2), 415-425, 2021
Mandates: Agence Nationale de la Recherche
Review
Further refinement of COL4A1 and COL4A2 related cortical malformations
M Cavallin, M Mine, M Philbert, N Boddaert, JM Lepage, T Coste, ...
European journal of medical genetics 61 (12), 765-772, 2018
Mandates: European Commission
Review
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism …
J Pulman, B Ruzzenente, L Bianchi, M Rio, N Boddaert, A Munnich, ...
Human Molecular Genetics 28 (9), 1445-1462, 2019
Mandates: Agence Nationale de la Recherche
Review
Mutations in TBR1 gene leads to cortical malformations and intellectual disability
N Vegas, M Cavallin, T Kleefstra, L de Boer, M Philbert, C Maillard, ...
European Journal of Medical Genetics 61 (12), 759-764, 2018
Mandates: National Institute of Health and Medical Research, France, European Commission
Review
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures
L Hubert, MC Serio, L Villoing-Gaudé, N Boddaert, A Kaminska, M Rio, ...
Journal of medical genetics 57 (2), 138-144, 2020
Mandates: Agence Nationale de la Recherche
Review
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations
G Barcia, M Rio, Z Assouline, C Zangarelli, N Gueguen, VD Dumas, ...
Human mutation 41 (2), 397-402, 2020
Mandates: Fondazione Telethon, Italy, Agence Nationale de la Recherche
Review
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation
C Maillard, M Cavallin, K Piquand, M Philbert, JP Bault, AE Millischer, ...
American Journal of Medical Genetics Part A 173 (3), 706-711, 2017
Mandates: National Institute of Health and Medical Research, France
Review
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay …
B Ruzzenente, Z Assouline, G Barcia, M Rio, N Boddaert, A Munnich, ...
Human mutation 39 (12), 2047-2059, 2018
Mandates: Fondazione Telethon, Italy
Review
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction
M Cavallin, A Bery, C Maillard, LJ Salomon, C Bole, ML Reilly, P Nitschké, ...
European journal of medical genetics 61 (12), 755-758, 2018
Mandates: European Commission
Review
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly
M Cavallin, C Maillard, M Hully, M Philbert, N Boddaert, ML Reilly, ...
European Journal of Medical Genetics 61 (12), 729-732, 2018
Mandates: European Commission
Review
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
A Guasto, J Dubail, S Aguilera-Albesa, C Paganini, C Vanhulle, ...
Brain 145 (10), 3711-3722, 2022
Mandates: US National Institutes of Health, Agence Nationale de la Recherche …
Review
Childhood gangliogliomas with ependymal differentiation
P Varlet, M Peyre, N Boddaert, C Miquel, C Sainte‐Rose, S Puget
Neuropathology and applied neurobiology 35 (4), 437-441, 2009
Mandates: National Institute of Health and Medical Research, France
Review
Clinico-radio-histo-molecular and neurocognitive characteristics of diffuse gliomas in adolescent and young adults: a comprehensive review
A Roux, M Zanello, G Antonia Simboli, P Varlet, A Tauziede-Espariat, ...
Oncology 101 (4), 240-251, 2023
Mandates: Swiss Cancer League
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