Emanuela Argilli, Ph.D.

Neurology University of California, San Francisco, San Francisco, CA 
Addiction, Autism
"Emanuela Argilli"
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Accogli A, Zaki MS, Al-Owain M, et al. (2023) Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain Communications. 5: fcad222
Vetro A, Pelorosso C, Balestrini S, et al. (2023) Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. American Journal of Human Genetics
de Sainte Agathe JM, Pode-Shakked B, Naudion S, et al. (2023) -related disorder: phenotypic and molecular spectrum. Journal of Medical Genetics
Nakashima M, Argilli E, Nakano S, et al. (2022) De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of Human Genetics
Leitão E, Schröder C, Parenti I, et al. (2022) Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications. 13: 6570
Qian X, DeGennaro EM, Talukdar M, et al. (2022) Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Developmental Cell
Holtz AM, Vancoil R, Vansickle EA, et al. (2022) Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Siafa L, Argilli E, Sherr EH, et al. (2022) De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatric Neurology. 131: 1-3
Gafner M, Michelson M, Argilli E, et al. (2021) Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. Journal of Human Genetics
Velmans C, O'Donnell-Luria AH, Argilli E, et al. (2021) O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of Medical Genetics
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