Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová, +28

New England Journal of Medicine

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian Rice, Naoki Kitabayashi, Magalie Barth, +49

Neuropediatrics

Severe phenotypic spectrum of biallelic mutations in<i>PRRT2</i>gene

Marion Delcourt, Florence Riant, Josette Mancini, +14

Journal of Neurology Neurosurgery & Psychiatry

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier, +55

The American Journal of Human Genetics

Molecular NeuroscienceNeurological DisorderGenetic DisorderGeneticsSyndromic Autism +11

Plagiocephaly: morphometry of skull base asymmetry

Guillaume Captier, Nicolas Leboucq, M. Bigorre, +4

Surgical and Radiologic Anatomy

Gross AnatomyAxial SkeletonSkull Base AsymmetryMorphologyMorphogenesis +4

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Claire Angebault, Majida Charif, Naïg Guegen, +11

Human Molecular Genetics

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationMendelian Disorder +15

AP4 deficiency

Agathe Roubertie, Nelson Hieu, Charles‐Joris Roux, +13

Neurology Genetics

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, +33

European Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderBrain DevelopmentDevelopmental Genetics +11

Anatomic Study Using Three-Dimensional Computed Tomographic Scan Measurement for Truncal Maxillary Nerve Blocks Via the Suprazygomatic Route in Infants

Guillaume Captier, Christophe Dadure, Nicolas Leboucq, +2

Journal of Craniofacial Surgery

Aplasia cutis congenita of the scalp with large underlying skull defect: a case report

Nicolas Leboucq, P. Montoya y M�rt�nez, F. Montoya-Vigo, +1

Neuroradiology

Skull BaseAplasia Cutis CongenitaDermatologyCraniofacial SurgeryMedicine +3