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 2016

Authors' reply — Clozapine for mitochondrial psychosis

por Demily, Caroline, Duwime, Charlyne, Poisson, Alice, Boddaert, Nathalie, Munnich, Arnold
Publicado 2017

Central Nervous System Complications in Cystinosis: The Role of Neuroimaging

por Servais, Aude, Boisgontier, Jennifer, Saitovitch, Ana, Hummel, Aurélie, Boddaert, Nathalie
Publicado 2022

Muscle hemihypertrophy syndrome with PIK3CA gene mutation associated with Tourette syndrome

por Hayoun-Vigouroux, Mathilde, Audebert, Séverine, Vabres, Pierre, Boddaert, Nathalie, Misery, Laurent, Abasq-Thomas, Claire
Publicado 2022

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 2020

Brain perfusion magnetic resonance imaging using pseudocontinuous arterial spin labeling in 314 dogs and cats

por Hoffmann, Anne‐Cécile, Ruel, Yannick, Gnirs, Kirsten, Papageorgiou, Stella, Zilberstein, Luca, Nahmani, Sarah, Boddaert, Nathalie, Gaillot, Hugues
Publicado 2021

Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

por Desguerre, Isabelle, Aubart, Melodie, Hashimoto, Yosuke, Poirier, Karine, Kaminska, Anna, Alison, Marianne, Boddaert, Nathalie, Munnich, Arnold, Campbell, Matthew
Publicado 2023

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 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 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 2015

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 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 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 2019

Object Detection Improves Tumour Segmentation in MR Images of Rare Brain Tumours

por Chegraoui, Hamza, Philippe, Cathy, Dangouloff-Ros, Volodia, Grigis, Antoine, Calmon, Raphael, Boddaert, Nathalie, Frouin, Frédérique, Grill, Jacques, Frouin, Vincent
Publicado 2021

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 2021

Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia

por Hashimoto, Yosuke, Poirier, Karine, Boddaert, Nathalie, Hubert, Laurence, Aubart, Melodie, Kaminska, Anna, Alison, Marianne, Desguerre, Isabelle, Munnich, Arnold, Campbell, Matthew
Publicado 2022

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 2019

Multimodal MRI radiomic models to predict genomic mutations in diffuse intrinsic pontine glioma with missing imaging modalities

por Khalid, Fahad, Goya-Outi, Jessica, Escobar, Thibault, Dangouloff-Ros, Volodia, Grigis, Antoine, Philippe, Cathy, Boddaert, Nathalie, Grill, Jacques, Frouin, Vincent, Frouin, Frédérique
Publicado 2023

Topographic variability of the normal circle of Willis anatomy on a paediatric population

por Zrafi, Wael, Veres, Cristina, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Haddy, Nadia, Journy, Neige, Allodji, Rodrigue, Alabdoaburas, Mohamad Mohamad, Diallo, Ibrahima, de Vathaire, Florent
Publicado 2021

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 2015