Pascale Saugier-Veber Selected Research

Agenesis of Corpus Callosum

1/2021	X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
9/2013	Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

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Pascale Saugier-Veber Research Topics

Disease

4	Hydrocephalus (Hydrocephaly) 01/2021 - 09/2013
3	Intellectual Disability (Idiocy) 01/2021 - 04/2014
3	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation 01/2021 - 02/2012
2	De Lange Syndrome (Cornelia De Lange Syndrome) 07/2022 - 01/2022
2	Movement Disorders (Movement Disorder) 02/2021 - 11/2009
2	Agenesis of Corpus Callosum 01/2021 - 09/2013
2	Lissencephaly 06/2010 - 02/2004
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2010 - 10/2007
1	Mucopolysaccharidoses 01/2022
1	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2022
1	Autistic Disorder (Autism) 01/2022
1	Alacrima 02/2021
1	NGLY1 deficiency 02/2021
1	Neurologic Gait Disorders (Gait, Hemiplegic) 01/2021
1	Aphasia (Dysphasia) 01/2021
1	Pathologic Constriction (Stenosis) 01/2021
1	Paraplegia (Spastic Paraplegia) 01/2021
1	Microcephaly 04/2020
1	Asperger Syndrome (Asperger's Syndrome) 01/2020
1	Cystinuria 07/2017
1	Nephrolithiasis 07/2017
1	Neurodevelopmental Disorders 01/2016
1	Pyle disease 07/2013
1	Cartilage-hair hypoplasia 07/2013
1	Candidiasis (Moniliasis) 12/2012
1	Infections 12/2012
1	Nervous System Diseases (Neurological Disorders) 02/2012
1	Classical Lissencephalies and Subcortical Band Heterotopias 06/2010
1	Myoclonic dystonia 11/2009
1	Episodic Ataxia 06/2008
1	Ataxia (Dyssynergia) 06/2008
1	Activated Protein C Resistance (APC Resistance) 03/2006
1	Familial Amyloidosis (Hereditary Amyloidosis) 01/2006
1	Thrombocytopenia (Thrombopenia) 11/2005
1	Hypertriglyceridemia 11/2005
1	Splenomegaly 11/2005
1	Atrophy 09/2004
1	Myotonic Disorders (Paramyotonia Congenita) 09/2004
1	Myotonic Dystrophy (Dystrophia Myotonica) 09/2004
1	Neoplasms (Cancer) 05/2004
1	Polyps 05/2004
1	Peutz-Jeghers Syndrome (Polyposis, Hamartomatous Intestinal) 05/2004
1	Hydranencephaly 02/2004

Drug/Important Bio-Agent (IBA)

5	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/2021 - 02/2012
3	Nonsense Codon (Nonsense Mutation)IBA 04/2014 - 02/2004
2	RNA (Ribonucleic Acid)IBA 07/2022 - 07/2013
2	NucleotidesIBA 01/2022 - 01/2020
1	5' Untranslated Regions (5' UTR)IBA 01/2022
1	GalactosidasesIBA 01/2022
1	OligosaccharidesIBA 02/2021
1	Biological ProductsIBA 02/2021
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 04/2020
1	Cystine (L-Cystine)IBA 07/2017
1	Amino Acids FDA Link 07/2017
1	Semaphorins (Semaphorin)IBA 01/2016
1	Mitochondrial RNAIBA 07/2013
1	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 07/2013
1	Ribonucleases (Ribonuclease)IBA 07/2013
1	CalnexinIBA 02/2012
1	Neural Cell Adhesion Molecules (Neural Cell Adhesion Molecule)IBA 02/2012
1	VLDL LipoproteinsIBA 06/2010
1	TubulinIBA 06/2010
1	ElementsIBA 01/2010
1	Sarcoglycans (beta Sarcoglycan)IBA 11/2009
1	Ion Channels (Ion Channel)IBA 06/2008
1	Messenger RNA (mRNA)IBA 10/2007
1	factor V CambridgeIBA 03/2006
1	AcidsIBA 01/2006
1	Proteins (Proteins, Gene)FDA Link 01/2006
1	GelsolinIBA 01/2006
1	Apolipoproteins E (ApoE)IBA 11/2005
1	HDL CholesterolIBA 11/2005
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 09/2004
1	Protein Isoforms (Isoforms)IBA 09/2004
1	tau Proteins (tau Protein)IBA 09/2004
1	Melanins (Melanin)IBA 05/2004
1	polyalanineIBA 02/2004

Therapy/Procedure

1	Therapeutics 12/2012