Germline and mosaic mutations of <i>FLN1</i> in men with periventricular heterotopia

Renzo Guerrini, Davide Mei, S. M. Sisodiya, +10

Neurology

Expansion of the first PolyA tract of <i>ARX</i> causes infantile spasms and status dystonicus

Renzo Guerrini, Francesca Moro, Mitsuhiro Kato, +11

Neurology

Mosaic mutations of the <i>LIS1</i> gene cause subcortical band heterotopia

Federico Sicca, Arpad Kelemen, Pierre Genton, +5

Neurology

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

Federico Sicca, Paola Imbrici, Maria Cristina D’Adamo, +8

Neurobiology of Disease

Neurodevelopmental DisordersMolecular NeurosciencePossible Causative RoleNeurophysiologySyndromic Autism +10

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Roberta Battini, M. Alessandri, Vincenzo Leuzzi, +4

The Journal of Pediatrics

Phenotypic ExpressionGeneticsInherited Metabolic DiseasePathogenesisGlycine Amidinotransferase +4

Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex

Akiyoshi Kakita, Shintaro Hayashi, Francesca Moro, +6

Acta Neuropathologica

Dysplastic CytoarchitectureCerebral CortexNeurologyNeuroscienceNeuropathology +2

Novel Dynein<i>DYNC1H1</i>Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

Chiara Fiorillo, Francesca Moro, Julie Yi, +11

Human Mutation

Rare DiseasesNeurodegenerative DiseasesDevelopmental BiologyMendelian DisorderNeurological Disorder +13

Familial periventricular heterotopia

Francesca Moro, Rosalba Carrozzo, Pierangelo Veggiotti, +4

Neurology

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

Elena Ambrosini, Federico Sicca, Maria Stefania Brignone, +19

Human Molecular Genetics

Postconditioning cardioprotection against infarct size and post-ischemic systolic dysfunction is influenced by gender

Cláudia Penna, Francesca Tullio, Annalisa Merlino, +6

Basic Research in Cardiology

Heart FailurePost-ischemic Systolic DysfunctionCardiovascular DiseaseAtherosclerosisMedicine +7