Roseline Caumes Selected Research

Leukoencephalopathies

1/2021

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

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Roseline Caumes Research Topics

Disease

2	Neurodevelopmental Disorders 10/2023 - 01/2023
1	Idiopathic Generalized Epilepsy 01/2024
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2023
1	Epilepsy (Aura) 01/2023
1	Myalgia 01/2023
1	Fever (Fevers) 01/2022
1	Autistic Disorder (Autism) 01/2022
1	Seizures (Absence Seizure) 01/2022
1	Leukoencephalopathies 01/2021
1	Cysts 01/2021
1	Cerebellar hypoplasia with endosteal sclerosis 01/2017
1	Anodontia (Hypodontia) 01/2017
1	Atrophy 01/2017
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2017
1	Rett Syndrome (Rett's Disorder) 07/2014
1	Polydactyly (Polydactylism) 02/2013
1	Liver Diseases (Liver Disease) 02/2013
1	Microcephaly 12/2012

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2023 - 12/2012
1	Member 2 Group F Nuclear Receptor Subfamily 1IBA 01/2024
1	Biomarkers (Surrogate Marker)IBA 10/2023
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2023
1	Sarcoglycans (beta Sarcoglycan)IBA 01/2023
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2023
1	NucleotidesIBA 01/2022
1	Small Nucleolar RNA (snoRNA)IBA 01/2021
1	2-(N-cyclohexylamino)ethanesulfonic acid (CHES)IBA 01/2017
1	Methyl-CpG-Binding Protein 2IBA 07/2014
1	Retinaldehyde (Retinal)IBA 02/2013

Therapy/Procedure

1	Toothbrushing 01/2022