1. N. Boddaert, M. Zilbovicius, A. Philipe, L. Robel, M. Bourgeois, C. Barthelemy, D. Seidenwurm, I. Meresse, L. Laurier, I. Desguerre, N. Bahi-Buisson, F. Brunelle, A. Munnich, Y. Samson, M. C. Mouren, and N. Chabane. MRI findings in 77 children with non-syndromic autistic disorder. PLoS ONE, 4(2):e4415, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Autistic Disorder/*diagnosis/pathology, Brain Mapping, Child, Demography, Female, Humans, *Magnetic Resonance Imaging, Male, Syndrome, Temporal Lobe/abnormalities.



2. S. Mercier, M. Josselin de Wasch, F. Labarthe, C. Jardel, A. Lombes, A. Munnich, A. Toutain, H. Nivet, E. Saliba, A. Chantepie, and P. Castelnau. [Clinical variability and diagnosis steps in childhood mitochondrial disease]. Arch Pediatr, 16(4):322-30, 2009. Note: English AbstractJournal ArticleFranceorgane officiel de la Societe francaise de pediatrie. [WWW] Keyword(s): Adolescent, Age of Onset, Central Nervous System Diseases/etiology, Child, Child, Preschool, Female, Growth Disorders/etiology, Heart Diseases/etiology, Humans, Infant, Infant, Newborn, Male, Mitochondrial Diseases/classification/*diagnosis/epidemiology, Muscle Hypotonia/etiology, Retrospective Studies.



3. J. Mollet, A. Delahodde, V. Serre, D. Chretien, D. Schlemmer, A. Lombes, N. Boddaert, I. Desguerre, P. de Lonlay, H. O. de Baulny, A. Munnich, and A. Rotig. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet, 82(3):623-30, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Amino Acid Sequence, Benzoquinones/analysis, Brain/enzymology/pathology, Cerebellar Ataxia/*genetics, Female, Haplotypes, Humans, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Muscle, Skeletal/chemistry, Mutation, Missense, Pedigree, Seizures/*genetics, Ubiquinone/analysis/*deficiency/genetics.



4. N. Dagoneau, D. Scheffer, C. Huber, L. I. Al-Gazali, M. Di Rocco, A. Godard, J. Martinovic, A. Raas-Rothschild, S. Sigaudy, S. Unger, S. Nicole, B. Fontaine, J. L. Taupin, J. F. Moreau, A. Superti-Furga, M. Le Merrer, J. Bonaventure, A. Munnich, L. Legeai-Mallet, and V. Cormier-Daire. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet, 74(2):298-305, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Base Sequence, Child, Chromosomes, Human, Pair 5, DNA Primers, Humans, Immunohistochemistry, Leukemia Inhibitory Factor Receptor alpha Subunit, Linkage (Genetics), Molecular Sequence Data, *Mutation, Osteochondrodysplasias/*genetics, Receptors, Cytokine/*genetics, Receptors, OSM-LIF.

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