N Boddaert

Summary

Country: France

Publications

  1. ncbi request reprint Functional neuroimaging and childhood autism
    Nathalie Boddaert
    Service de Radiologie Pediatrique, Necker Enfants Malades Hospital, Paris, France
    Pediatr Radiol 32:1-7. 2002
  2. ncbi request reprint Autism severity and temporal lobe functional abnormalities
    Isabelle Gendry Meresse
    ERM 0205 Institut National de la Sante et de la Recherche Médicale CEA, Service Hospitalier F Joliot, DSV, DRM, CEA, Orsay, France
    Ann Neurol 58:466-9. 2005
  3. ncbi request reprint [Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]
    Nathalie Boddaert
    Service de Radiologie Pediatrique, ERM 0205, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Med Sci (Paris) 21:981-6. 2005
  4. ncbi request reprint Parieto-occipital grey matter abnormalities in children with Williams syndrome
    N Boddaert
    ERM 0205 INSERM CEA, Service Hospitalier Frederic Joliot, 4, place du General Leclerc, 91406 Orsay, France
    Neuroimage 30:721-5. 2006
  5. ncbi request reprint Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study
    N Boddaert
    ERM 0205 INSERM CEA, Service Hospitalier Frederic Joliot, CEA, 91406, Orsay, France
    Neuroimage 23:364-9. 2004
  6. ncbi request reprint Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome
    N Boddaert
    Service de Genetique, Necker Enfants Malades, 75015 Paris, France
    Neuroimage 21:1021-5. 2004
  7. ncbi request reprint Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation
    N Boddaert
    Paediatric Radiology Department, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Neuroradiology 45:320-4. 2003
  8. ncbi request reprint Temporal lobe dysfunction in childhood autism: a PET study. Positron emission tomography
    M Zilbovicius
    Service Hospitalier Frederic Joliot, Direction des Sciences du Vivant, Département de Recherche, Commisariat à l Energie Atomique, Tours, France
    Am J Psychiatry 157:1988-93. 2000
  9. ncbi request reprint [Bitemporal lobe dysfonction in infantile autism: positron emission tomography study]
    N Boddaert
    Service Hospitalier Frederic Joliot, ER M INSERM 0205, DSV, DRM, CEA, Orsay, 4, place du Général Leclerc 91406, Orsay, France
    J Radiol 83:1829-33. 2002
  10. doi request reprint Posterior fossa imaging in 158 children with ataxia
    N Boddaert
    Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, AP HP, Paris V, Paris, France
    J Neuroradiol 37:220-30. 2010

Detail Information

Publications66

  1. ncbi request reprint Functional neuroimaging and childhood autism
    Nathalie Boddaert
    Service de Radiologie Pediatrique, Necker Enfants Malades Hospital, Paris, France
    Pediatr Radiol 32:1-7. 2002
    ..These results suggest that different connections between particular cortical regions could exist in autism. The purpose of this review is to present the main results of rest and activation studies performed in autism...
  2. ncbi request reprint Autism severity and temporal lobe functional abnormalities
    Isabelle Gendry Meresse
    ERM 0205 Institut National de la Sante et de la Recherche Médicale CEA, Service Hospitalier F Joliot, DSV, DRM, CEA, Orsay, France
    Ann Neurol 58:466-9. 2005
    ..The more severe the autistic syndrome, the more rCBF is low in this region, suggesting that left superior temporal hypoperfusion is related to autistic behavior severity...
  3. ncbi request reprint [Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]
    Nathalie Boddaert
    Service de Radiologie Pediatrique, ERM 0205, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Med Sci (Paris) 21:981-6. 2005
    ..PET with [18F]Fluoro-L-DOPA has been validated as a reliable test to differentiate diffuse and focal HI and is now a major differential diagnosis tool in infantile hyperinsulinemic hypoglycaemia...
  4. ncbi request reprint Parieto-occipital grey matter abnormalities in children with Williams syndrome
    N Boddaert
    ERM 0205 INSERM CEA, Service Hospitalier Frederic Joliot, 4, place du General Leclerc, 91406 Orsay, France
    Neuroimage 30:721-5. 2006
    ..Additionally, our study provides support for the use of advanced structural imaging techniques in children, in order to improve our understanding of neurobehavioral phenotypes associated with well-defined genetic disorders...
  5. ncbi request reprint Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study
    N Boddaert
    ERM 0205 INSERM CEA, Service Hospitalier Frederic Joliot, CEA, 91406, Orsay, France
    Neuroimage 23:364-9. 2004
    ..Therefore, the convergent anatomical and functional temporal abnormalities observed in autism may be important in the understanding of brain behavior relationships in this severe developmental disorder...
  6. ncbi request reprint Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome
    N Boddaert
    Service de Genetique, Necker Enfants Malades, 75015 Paris, France
    Neuroimage 21:1021-5. 2004
    ..The identification of localized brain anomalies in SMS may help in understanding how this well-defined genetic entity can lead to a relatively specific severe neurobehavioral syndrome...
  7. ncbi request reprint Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation
    N Boddaert
    Paediatric Radiology Department, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Neuroradiology 45:320-4. 2003
    ..Preservation of cerebrocerebellar pathways and neonatal plasticity could explain the normal intellectual development. These findings might be useful in prenatal diagnosis...
  8. ncbi request reprint Temporal lobe dysfunction in childhood autism: a PET study. Positron emission tomography
    M Zilbovicius
    Service Hospitalier Frederic Joliot, Direction des Sciences du Vivant, Département de Recherche, Commisariat à l Energie Atomique, Tours, France
    Am J Psychiatry 157:1988-93. 2000
    ..The authors reasoned that early methods may have been insensitive to such dysfunction, which may now be detectable with improved technology...
  9. ncbi request reprint [Bitemporal lobe dysfonction in infantile autism: positron emission tomography study]
    N Boddaert
    Service Hospitalier Frederic Joliot, ER M INSERM 0205, DSV, DRM, CEA, Orsay, 4, place du Général Leclerc 91406, Orsay, France
    J Radiol 83:1829-33. 2002
    ..The purpose of the present study was to research localized brain dysfunction in autistic children using functional brain imaging...
  10. doi request reprint Posterior fossa imaging in 158 children with ataxia
    N Boddaert
    Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, AP HP, Paris V, Paris, France
    J Neuroradiol 37:220-30. 2010
    ..To propose a MRI cerebellar algorithm that may be applied to guide genetic/malformative or biochemical investigations for patients with cerebellar ataxia...
  11. doi request reprint Social cognition and the superior temporal sulcus: implications in autism
    A Saitovitch
    Unité Inserm 1000, Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, AP HP, université Paris V René Descartes, 149, rue de Sevres, 75015 Paris Cedex 15, France
    Rev Neurol (Paris) 168:762-70. 2012
    ..In the present work, we will review recent data on STS contributions to normal social cognition and its implication in autism, with particular focus on eye gaze perception...
  12. ncbi request reprint [Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]
    M Devaux-Bricout
    Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, Inserm U781 et U1000, Université Paris Descartes Sorbonne Paris Cité, 149, rue de Sevres, 75015 Paris, France Electronic address
    Rev Neurol (Paris) 170:381-9. 2014
    ..We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests...
  13. ncbi request reprint Intracranial venous anomalies associated with atretic cephalocoeles
    F Brunelle
    Department of Paediatric Radiology, Hopital Necker Enfants Malades, Paris, France
    Pediatr Radiol 30:743-7. 2000
    ..They include soft-tissue masses and atretic meningocoeles. Their recognition is important as their treatment differs. Intracranial venous anomalies are known to be associated with atretic cephalocoeles...
  14. ncbi request reprint Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome
    F Mochel
    Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, Paris, France
    AJNR Am J Neuroradiol 27:333-6. 2006
    ..The high level of resolution of MR imaging, which allows analysis of cerebral gyration and myelination, facilitates the prenatal diagnosis of complex polymalformative syndromes such as ZS...
  15. ncbi request reprint 1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency
    N Boddaert
    Service de Radiologie Pediatrique, U797, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, France
    Mol Genet Metab 93:85-8. 2008
    ..1H MRS spectroscopy evidence of lactate peak was found in the cerebellum of 9/11 cases, while no lactate was detected in the putamen in 8/11. We suggest using 1H MRS in cerebellar atrophy in the diagnosis of mitochondrial RCD...
  16. doi request reprint Unusual consequences of status epilepticus in Dravet syndrome
    M Chipaux
    Service de Neuropediatrie, Centre de Référence Épilepsies Rares, AP HP, Hopital Necker Enfants Malades, Paris, France
    Seizure 19:190-4. 2010
    ..For theoretical reasons the responsibility of therapy common for the 3 patients, e.g., barbiturates was suspected...
  17. doi request reprint Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
    F Molinari
    Laboratoire de génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement INSERM U781, Hopital Necker Enfants Malades, Universite Paris Descartes, Paris, France
    Clin Genet 76:188-94. 2009
    ..Comparison of the clinical features of patients from both families suggests that SLC25A22 mutations are responsible for a novel clinically recognizable epileptic encephalopathy with SB...
  18. doi request reprint [Brain imaging of infantile autism]
    F Brunelle
    Unité Inserm U1000, Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, Paris Descartes, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Arch Pediatr 19:547-50. 2012
    ..Those regions are implicated in processing sensorial inputs necessary for normal social life. All those anomalies could be responsible of the abnormal social behaviour pattern of children with autism...
  19. ncbi request reprint Dandy-Walker malformation: prenatal diagnosis and prognosis
    O Klein
    Service de neurochirurgie pédiatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Childs Nerv Syst 19:484-9. 2003
    ..If any one of the previous criteria were not met, the malformation was considered distinct from DWM...
  20. doi request reprint Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
    V Valayannopoulos
    Reference Center for Metabolic Disorders, Necker Enfants Malades Hospital and Université Paris Descartes, 149 rue de Sevres, 75015 Paris, France
    Mol Genet Metab 97:109-13. 2009
    ..The aim of this study was to evaluate the neuropsychological features and creatine metabolism in patients with GA...
  21. ncbi request reprint [Auditory perception and language: functional imaging of speech sensitive auditory cortex]
    Y Samson
    CEA, DRM, Service Hospitalier Frederic Joliot, Orsay, France
    Rev Neurol (Paris) 157:837-46. 2001
    ....
  22. ncbi request reprint A primal sketch of the cortex mean curvature: a morphogenesis based approach to study the variability of the folding patterns
    A Cachia
    Service Hospitalier Frederic Joliot, CEA, 4, place du Gal Leclerc, 91401 Orsay, Cedex, France
    IEEE Trans Med Imaging 22:754-65. 2003
    ..Some results are proposed for ten different brains. Some preliminary results are also provided for superior temporal sulcus...
  23. doi request reprint [PET and paediatrics]
    N Boddaert
    AP HP, Service de Radiologie Pediatrique, Necker Enfants Malades, Paris, France
    Arch Pediatr 15:711-2. 2008
  24. doi request reprint The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
    N Brahimi
    AP HP, Hopital Necker Enfants Malades, Département de génétique, Batiment Lavoisier 3 è Etage, 149 rue de Sevres, Paris F 75015, France
    Mol Genet Metab 97:221-6. 2009
    ..6 Mb of DNA covering the DGUOK locus. In conclusion, we report a new DGUOK splice site mutation that provide insight into a critical protein domain (dGK kinase domain) and the first founder mutation in a North-African population...
  25. ncbi request reprint Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study
    S Romano
    Service de génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Neuropediatrics 37:42-5. 2006
    ....
  26. doi request reprint Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
    N Bahi-Buisson
    Pediatric Neurology Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    J Med Genet 45:647-53. 2008
    ....
  27. ncbi request reprint [Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]
    N Bahi-Buisson
    Service de Neurologie Pediatrique, Departement de Pediatrie, Hopital Necker Enfants Malades, AP HP, Paris V, 149, rue de Sevres, 75015 Paris, France
    Rev Neurol (Paris) 164:995-1009. 2008
    ..It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. Based on this experience, a detailed phenotype analysis is needed to develop the most efficient research on MCD in the future...
  28. ncbi request reprint Standardized fetal anatomical examination using magnetic resonance imaging: a feasibility study
    A E Millischer
    Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Universite Paris Descartes, Paris, France
    Ultrasound Obstet Gynecol 42:553-9. 2013
    ..To determine whether a standard complete fetal anatomical survey, as recommended for ultrasound examination guidelines, is feasible using a standardized magnetic resonance imaging (MRI) protocol...
  29. ncbi request reprint [Value of MRI in the diagnosis of unilateral optic nerve aplasia: a case report]
    L Chat
    Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15
    J Radiol 83:1853-5. 2002
    ..This observation shows the usefulness of systematic MRI in case of microphthalmos associated with suggestive anomalies of the fundus...
  30. doi request reprint [Prenatal symptoms and diagnosis of inherited metabolic diseases]
    A Brassier
    Centre de référence des maladies héréditaires du métabolisme de Necker, Hopital Necker Enfants Malades, Universite Paris Descartes, AP HP, 149, rue de Sevres, 75015 Paris, France
    Arch Pediatr 19:959-69. 2012
    ..e., serine deficiency, some fatty acid beta-oxidation defects, transaldolase deficiency, lysosomal diseases, CDG, Zellweger syndrome, and SLO syndrome...
  31. doi request reprint Primary aneurysmal bone cysts in children: percutaneous sclerotherapy with absolute alcohol and proposal of a vascular classification
    K Lambot-Juhan
    Pediatric Radiology, Hopital Necker Enfants Malades, 149 161 Rue de Sèvres, Paris, 75015, France
    Pediatr Radiol 42:599-605. 2012
    ..Percutaneous sclerotherapy is an effective treatment for aneurysmal bone cysts (ABCs)...
  32. ncbi request reprint [Congenital hyperinsulinism in newborn and infant]
    I Giurgea
    Département de pédiatrie et maladies métaboliques, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Arch Pediatr 12:1628-35. 2005
    ..In absence of response to the medical treatment (diazoxide) a limited pancreatectomy permits to cure focal HI, while a diffuse HI requires a subtotal pancreatectomy with high risk of subsequent diabetes mellitus...
  33. doi request reprint [Epilepsy and focal lesions in children. Surgical management]
    M Bourgeois
    Service de Neurochirurgie, Hopital Necker Enfants Malades, 149, rue de Sevres, 75015 Paris, France
    Neurochirurgie 54:362-5. 2008
    ..Early surgery must be considered in children because of the benefits of seizure control on the developing brain and the risk of secondary epileptogenesis...
  34. doi request reprint Childhood craniopharyngioma: hypothalamus-sparing surgery decreases the risk of obesity
    E Elowe-Gruau
    Pediatric Endocrinology Gynecology and Diabetology Unit, Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, 75015 Paris, France
    J Clin Endocrinol Metab 98:2376-82. 2013
    ..Limited surgery minimizing hypothalamic damage may decrease the severe obesity rate at the expense of the need for radiotherapy to complete the treatment...
  35. ncbi request reprint [Imaging of pediatric head injury]
    F Brunelle
    Service de Radiologie Pediatrique, Hopital des Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15
    J Radiol 86:253-62. 2005
    ..The main types of injuries and their appearances at different imaging modalities will be reviewed. CT remains a valuable tool but MRI also is helpful at the time of initial evaluation as well as for prognostic evaluation...
  36. ncbi request reprint Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy
    Maria Joao Ribeiro
    Life Sciences Division, Biomedical Imaging Institute, Frédéric Joliot Hospital, CEA, Orsay, France
    Endocr Dev 12:55-66. 2007
    ..Therefore, we have evaluated the use of PET with [18F]fluoro-L-DOPA, a precursor of catecholamines, to image the pancreas and distinguish focal from diffuse HI...
  37. ncbi request reprint Angiocentric neuroepithelial tumor (ANET): a new epilepsy-related clinicopathological entity with distinctive MRI
    Arielle Lellouch-Tubiana
    Department of Neuropathology, Universite Paris Descartes, Faculte de Medecine, Paris, France
    Brain Pathol 15:281-6. 2005
    ..Immunohistochemical neuronal markers (neurofilament protein, synaptophysin and chromogranin) confirm the presence of a neuronal cell component. Therefore, the term angiocentric neuroepithelial tumor (ANET) is proposed...
  38. doi request reprint Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood
    Anne Philippe
    National Institute of Health and Medical Research and Department of Genetics, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
    Pediatrics 122:e376-82. 2008
    ..Our goal is to contribute to the description of the neurobehavioral phenotype and brain abnormalities of this microdeletional syndrome...
  39. ncbi request reprint Perception of complex sounds: abnormal pattern of cortical activation in autism
    Nathalie Boddaert
    ERM 0205, Division of Life Sciences, Department of Medical Research, INSERM CEA Service Hospitalier Frédéric Joliot, 4 Place du General Leclerc, 91406 Orsay, France
    Am J Psychiatry 160:2057-60. 2003
    ..In normal adults, these regions are activated by listening to speech-like sounds. To investigate auditory cortical processing in autism, the authors performed a positron emission tomography activation study...
  40. ncbi request reprint Multiple bur hole surgery for the treatment of moyamoya disease in children
    Christian Sainte-Rose
    Department of Pediatric Neurosurgery, Hopital Necker Enfants Malades, Paris, France
    J Neurosurg 105:437-43. 2006
    ....
  41. ncbi request reprint The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children
    Maria Joao Ribeiro
    Biomedical Imaging Institute, Life Sciences Division, Commissariat a l Energie Atomique, Frédéric Joliot Hospital, 4 Place du General Leclerc, Orsay, France
    Eur J Nucl Med Mol Imaging 34:2120-8. 2007
    ..Here, we report the diagnostic value of PET with [(18)F]fluoro-L-DOPA in distinguishing focal from diffuse HI...
  42. ncbi request reprint Craniopharyngioma: the pendulum of surgical management
    Christian Sainte-Rose
    Service de neurochirurgie pédiatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015, Paris, France
    Childs Nerv Syst 21:691-5. 2005
    ..For a long time, craniopharyngiomas have been considered surgically attractive tumours. The fact that they are rare, histologically benign, and located in a challenging (but considered accessible) area made them worthy surgical prizes...
  43. ncbi request reprint Perception of complex sounds in autism: abnormal auditory cortical processing in children
    Nathalie Boddaert
    Commissariat a l Energie Atomique, Service Hospitalier Frederic Joliot, 4 Place du General Leclerc, 91406 Orsay, France
    Am J Psychiatry 161:2117-20. 2004
    ..Here, they investigated whether this abnormal cortical processing was also present in children with primary autism...
  44. ncbi request reprint Autism, the superior temporal sulcus and social perception
    Monica Zilbovicius
    URM 0205 Brain Imaging in Psychiatry, INSERM CEA, Service Hospitalier Frederic Joliot, CEA, 4 Place du General Leclerc, Orsay 91406, France
    Trends Neurosci 29:359-66. 2006
    ..This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/)...
  45. ncbi request reprint [Autism: neuroimaging]
    Monica Zilbovicius
    ERM 0205 INSERM CEA, Serviço Hospitalar Frédéric Joliot, Orsay, Franca
    Rev Bras Psiquiatr 28:S21-8. 2006
    ..The understanding of the functional alterations of this important mechanism may drive the elaboration of new and more adequate social re-educative strategies for autistic patients...
  46. ncbi request reprint Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion
    Pascale de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:933-40. 2006
    ..Preoperative differential diagnosis was based on pancreatic venous sampling, a technically demanding technique...
  47. ncbi request reprint Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA
    Maria Joao Ribeiro
    Service Hospitalier Frederic Joliot, Departement de Recherche Medicale, Direction des Sciences du Vivant, Commissariat a l Energie Atomique, Orsay, France
    J Nucl Med 46:560-6. 2005
    ..Therefore, the aim of this study was (a) to evaluate the use of PET with 18F-fluoro-L-dihydroxyphenylalanine (18F-fluoro-L-DOPA) and (b) to distinguish between focal and diffuse HI...
  48. ncbi request reprint Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia
    Nadia Bahi-Buisson
    Department of Neuropaediatrics and Metabolic Diseases, Necker Hospital for Sick Children, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Dev Med Child Neurol 47:830-4. 2005
    ..The kinetics of regional cortical maturation could explain this unusual condition...
  49. ncbi request reprint Autism: functional brain mapping of exceptional calendar capacity
    Nathalie Boddaert
    Service Hospitalier Frederic Joliot, DRM, DSV, CEA, 4 Place du General Leclerc 91406, Orsay, France
    Br J Psychiatry 187:83-6. 2005
    ..Autistic savants' are individuals with autism who have extraordinary skills. Brain mechanisms underlying such capacities are still unknown...
  50. ncbi request reprint High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations
    Kalman Tory
    INSERM, U574, Paris, France
    J Am Soc Nephrol 18:1566-75. 2007
    ..Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations...
  51. ncbi request reprint Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene
    Vincent des Portes
    Service de Pediatrie, HCL, Centre Hospitalier Lyon Sud, 69395 Pierre Bénite, France
    Am J Med Genet A 124:364-71. 2004
    ..In addition, OPHN-1 inactivation should be considered as a relevant model of developmental vermis disorganization, leading to a better understanding of the possible role of the cerebellum in MR...
  52. ncbi request reprint Thalamic tumors in children: a reappraisal
    Stephanie Puget
    Department of Pediatric Neurosurgery, Hopital Necker Enfants Malades, Paris, France
    J Neurosurg 106:354-62. 2007
    ..The aim of this study was to determine whether clinical and neuroimaging features could guide treatment, and to what extent these features, together with histological diagnosis and treatment modalities, influenced survival...
  53. ncbi request reprint The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
    Marion Delous
    Institut National de la Santé et de la Recherche Médicale INSERM U 574, Hopital Necker Enfants Malades, 75015 Paris, France
    Nat Genet 39:875-81. 2007
    ..Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder...
  54. doi request reprint Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?
    Isabelle Desguerre
    Department of Neuropaediatrics, APHP, Necker Enfants Malades Hospital, Paris, France
    Dev Med Child Neurol 50:112-6. 2008
    ..The contribution of the epileptic encephalopathy itself appears the most likely course...
  55. doi request reprint Unusual magnetic resonance imaging features in Menkes disease
    Christine Barnerias
    Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, 149 rue de Sevres, AP HP, 75743 Paris Cedex 15, France
    Brain Dev 30:489-92. 2008
    ..Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure...
  56. ncbi request reprint The three stages of epilepsy in patients with CDKL5 mutations
    Nadia Bahi-Buisson
    Departement de Pediatrie, Service de Neurologie Pediatrique, Hopital Necker Enfants Malades, AP HP, Paris V, Paris, France
    Epilepsia 49:1027-37. 2008
    ..So far, the electroclinical phenotype remains largely unknown and no clear genotype-phenotype correlations have been established...
  57. ncbi request reprint Abnormal cortical voice processing in autism
    Hélène Gervais
    ERM 0205, INSERM CEA, DRM, DSV, Service Hospitalier Frederic Joliot, 4, place du General Leclerc, 91406, Orsay, France
    Nat Neurosci 7:801-2. 2004
    ..These findings suggest abnormal cortical processing of socially relevant auditory information in autism...
  58. ncbi request reprint Respiratory chain deficiency in a female with Aicardi-Goutières syndrome
    Christine Barnerias
    Department of Paediatrics, Hopital Necker Enfants Malades, Paris, France
    Dev Med Child Neurol 48:227-30. 2006
    ..We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients...
  59. pmc CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
    Julie Mollet
    INSERM U781 and Department of Genetics, Hopital Necker Enfants Malades, Universite Rene Descartes Paris V, 149 rue de Sevres, 75015 Paris, France
    Am J Hum Genet 82:623-30. 2008
    ..All the missense mutations resulted in a respiratory phenotype with no or decreased growth on glycerol medium and a severe reduction in ubiquinone synthesis, demonstrating that these mutations alter the protein function...
  60. ncbi request reprint Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome
    Guntram Borck
    INSERM U781 and Department of Medical Genetics, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, Assistance Publique Hopitaux de Paris, Paris, France
    Hum Mutat 29:966-74. 2008
    ....
  61. ncbi request reprint The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
    Irina Giurgea
    INSERM U654, and Department of Genetics, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex, France
    J Clin Endocrinol Metab 91:4118-23. 2006
    ..5. Plurifocal or large forms of focal CHI are a cause of apparent failure of surgery, and their underlying mechanism has not been thoroughly investigated...
  62. pmc The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
    Lekbir Baala
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:186-94. 2007
    ..No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3...
  63. pmc 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 autonomic dysfunction
    Jeanne Amiel
    From the Departments of Genetics, Pediatric Radiology and INSERM U 797, Universite Paris Descartes, Faculte de Medecine, Hopitaux de Paris, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:988-93. 2007
    ..Moreover, our data may shed new light on the normal processes underlying autonomic nervous system development and maintenance of an appropriate ventilatory neuronal circuitry...
  64. ncbi request reprint Selective iron chelation in Friedreich ataxia: biologic and clinical implications
    Nathalie Boddaert
    Pediatric Radiology Unit, Institut National de la Sante et de la Recherche Medicale, Hopital Necker Enfants Malades, université Paris V René Descartes, Paris, France
    Blood 110:401-8. 2007
    ..The use of moderate chelation for relocating iron from areas of deposition to areas of deprivation has clinical implications for various neurodegenerative and hematologic disorders...
  65. ncbi request reprint [Hyperinsulinism in children: new concepts - the role of imaging]
    Francis Brunelle
    Radiologie Pédiatrique, Hopital Necker Enfants Malades, Paris
    Bull Acad Natl Med 192:59-70; discussion 71-2. 2008
    ..Biochemical and genetic studies show that focal and diffuse forms are due to various mutations of chromosome 11...
  66. ncbi request reprint Stereotactic biopsy of diffuse pontine lesions in children
    Thomas Roujeau
    Department of Pediatric Neurosurgery, Hopital Necker Enfants Malades, Paris, France
    J Neurosurg 107:1-4. 2007
    ..To be included into a trial, patients need a definitive histological diagnosis. The authors present their prospective study of the stereotactic biopsy of these lesions during a 4-year period...