Neurodegeneration with brain iron accumulation: a diagnostic algorithm

Por Kruer, Michael C., Boddaert, Nathalie
Publicado em 2012

Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation

Por Demily, Caroline, Duwime, Charlyne, Poisson, Alice, Boddaert, Nathalie, Munnich, Arnold
Publicado no Mol Genet Metab Rep (2016)

Authors' reply — Clozapine for mitochondrial psychosis

Por Demily, Caroline, Duwime, Charlyne, Poisson, Alice, Boddaert, Nathalie, Munnich, Arnold
Publicado no Mol Genet Metab Rep (2017)

MB-95 RESIDUAL LESIONS AFTER COMPLETION TREATMENT FOR CHILDHOOD MEDULLOBLASTOMA

Por Klein, Sebastien, Boddaert, Nathalie, Varlet, Pascale, Puget, Stephanie, Valteau-Couanet, Dominique, Dufour, Christelle
Publicado no Neuro Oncol (2016)

Scurvy: A New Old Cause of Skeletal Pain in Young Children

Por Chalouhi, Christel, Nicolas, Nayla, Vegas, Nancy, Matczak, Soraya, El Jurdi, Houmam, Boddaert, Nathalie, Abadie, Véronique
Publicado no Front Pediatr (2020)

Ocular modifications in a young girl with cryopyrin-associated periodic syndromes responding to interleukin-1 receptor antagonist anakinra

Por Terrada, Celine, Neven, Benedicte, Boddaert, Nathalie, Souied, Eric H, Prieur, Anne Marie, Quartier, Pierre, Lehoang, Phuc, Bodaghi, Bahram
Publicado em 2011

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency()

Por Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.
Publicado em 2013

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

Por Philippe, Anne, Craus, Yann, Rio, Marlène, Bahi-Buisson, Nadia, Boddaert, Nathalie, Malan, Valérie, Bonnefont, Jean-Paul, Robel, Laurence
Publicado no BMC Psychiatry (2015)

Neuronal differentiation distinguishes supratentorial and infratentorial childhood ependymomas

Por Andreiuolo, Felipe, Puget, Stéphanie, Peyre, Matthieu, Dantas-Barbosa, Carmela, Boddaert, Nathalie, Philippe, Cathy, Mauguen, Audrey, Grill, Jacques, Varlet, Pascale
Publicado em 2010

Expanding the clinical spectrum of MTTF mutations

Por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Publicado no Mol Genet Metab Rep (2019)

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF

Por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Publicado no Mol Genet Metab Rep (2019)

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

Por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès
Publicado no Mol Genet Metab Rep (2019)

Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

Por Lindan, Camilla E, Mankad, Kshitij, Ram, Dipak, Kociolek, Larry K, Silvera, V Michelle, Boddaert, Nathalie, Stivaros, Stavros Michael, Palasis, Susan
Publicado no Lancet Child Adolesc Health (2021)

LGG-04. CLINICO-HISTO-MOLECULAR LANDSCAPE OF EIGHTY-TWO PEDIATRIC AND YOUNG ADULT DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS

Por Pagès, Mélanie, Jones, David T W, Boddaert, Nathalie, Tauziède-Espariat, Arnault, Debily, Marie-Anne, Blauwblomme, Thomas, Figarella-Branger, Dominique, Beroukhim, Rameen, Varlet, Pascale
Publicado no Neuro Oncol (2019)

Neural and behavioral signature of human social perception

Por Saitovitch, Ana, Lemaitre, Hervé, Rechtman, Elza, Vinçon-Leite, Alice, Calmon, Raphael, Grévent, David, Dangouloff-Ros, Volodia, Brunelle, Francis, Boddaert, Nathalie, Zilbovicius, Monica
Publicado no Sci Rep (2019)

Comprehensive Review of 3D Segmentation Software Tools for MRI Usable for Pelvic Surgery Planning

Por Virzì, Alessio, Muller, Cécile Olivia, Marret, Jean-Baptiste, Mille, Eva, Berteloot, Laureline, Grévent, David, Boddaert, Nathalie, Gori, Pietro, Sarnacki, Sabine, Bloch, Isabelle
Publicado no J Digit Imaging (2019)

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto...

Por Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence
Publicado em 2007

Contiguous mutation syndrome in the era of high-throughput sequencing

Por Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M S, Barouki, Robert, Amiel, Jeanne, Colleaux, Laurence
Publicado no Mol Genet Genomic Med (2015)

Tuning Eye-Gaze Perception by Transitory STS Inhibition

Por Saitovitch, Ana, Popa, Traian, Lemaitre, Hervé, Rechtman, Elza, Lamy, Jean-Charles, Grévent, David, Calmon, Raphael, Meunier, Sabine, Brunelle, Francis, Samson, Yves, Boddaert, Nathalie, Zilbovicius, Monica
Publicado no Cereb Cortex (2016)

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Por Philippe, Orianne, Rio, Marlène, Carioux, Astrid, Plaza, Jean-Marc, Guigue, Philippe, Molinari, Florence, Boddaert, Nathalie, Bole-Feysot, Christine, Nitschke, Patrick, Smahi, Asma, Munnich, Arnold, Colleaux, Laurence
Publicado em 2009