Elisa Cali
Queen Square
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 28 publications
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Journal: Brain : a journal of neurology
Published: May 16, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 07, 2023
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Journal: Genes
Published: October 09, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 31, 2023
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Journal: Brain communications
Published: July 27, 2023
White matter abnormalities in 15 subjects with SPG76.
Journal: Journal of neurology
Published: June 22, 2023
Leukoencephalopathy caused by a 17p13.3 microdeletion.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: June 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: May 15, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Journal: Brain : a journal of neurology
Published: January 27, 2023
Last Updated: 09/26/2026