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Publications by Lina Ghaloul-Gonzalez
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
American Journal of Human Genetics
Genetics
ETHE1 and MOCS1 Deficiencies: Disruption of Mitochondrial Bioenergetics, Dynamics, Redox Homeostasis and Endoplasmic Reticulum-Mitochondria Crosstalk in Patient Fibroblasts
Scientific Reports
Multidisciplinary
Related publications
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
American Journal of Human Genetics
Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
American Journal of Human Genetics
Genetics
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
American Journal of Human Genetics
Genetics
Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
American Journal of Human Genetics
Genetics
Spine Loss and Other Persistent Alterations of Hippocampal Pyramidal Cell Dendrites in a Model of Early-Onset Epilepsy
Journal of Neuroscience
Neuroscience
Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia
Nature
Multidisciplinary
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
American Journal of Human Genetics
Genetics
Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
