Emmanuel Scalais

Luxembourg, LU L1210, Luxembourg

Last Updated: 09/26/2026

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Found 32 publications

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G.

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G.

Journal: Genes

Published: August 23, 2025

Abdominal Pain Mimicking a Neurological Disorder: A Case Report of Spinal Cavernous Malformation in a Pediatric Patient.

Abdominal Pain Mimicking a Neurological Disorder: A Case Report of Spinal Cavernous Malformation in a Pediatric Patient.

Journal: Cureus

Published: August 19, 2024

TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.

TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.

Journal: American journal of medical genetics. Part A

Published: September 22, 2023

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Journal: Brain : a journal of neurology

Published: April 21, 2023

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?

Journal: Molecular genetics and metabolism

Published: December 04, 2022

Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby.

Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby.

Journal: BMJ case reports

Published: August 03, 2022

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 03, 2022

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.

Journal: Frontiers in molecular neuroscience

Published: February 28, 2022

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Journal: Clinical genetics

Published: January 09, 2022

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 22, 2021

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Journal: Epilepsy & behavior : E&B

Published: September 05, 2021

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Journal: Brain : a journal of neurology

Published: March 12, 2021

Showing 1-12 of 32

Last Updated: 09/26/2026