Anide Johansen

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

T. Ideker, J. Al-Aama, Matan Hofree, 2014, Science.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

J. Vincent, A. Caglayan, R. Abou Jamra, 2016, American journal of human genetics.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

A. Schlessinger, A. Caglayan, M. Topcu, 2016, Cell.

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Kiely N. James, Martin W. Breuss, Renee D. George, 2018, American journal of human genetics.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

F. Imam, J. Gleeson, G. Novarino, 2017, Journal of Medical Genetics.

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

Hongda Li, J. Gleeson, Zhiheng Xu, 2019, Neuron.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

J. Vincent, R. Abou Jamra, J. Gleeson, 2016, American journal of human genetics.