Frances Elmslie Selected Research

Congenital Disorders of Glycosylation

1/2022

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

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Frances Elmslie Research Topics

Disease

6	Tuberous Sclerosis (Bourneville's Disease) 01/2019 - 01/2008
2	Neurodevelopmental Disorders 10/2022 - 01/2018
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 04/2011
1	KBG syndrome 10/2022
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022
1	Congenital Disorders of Glycosylation 01/2022
1	Leukoencephalopathies 01/2021
1	Cysts 01/2021
1	Bites and Stings (Sting) 12/2020
1	Seizures (Absence Seizure) 11/2018
1	Drug Resistant Epilepsy 11/2018
1	Brain Diseases (Brain Disorder) 11/2018
1	Glut1 Deficiency Syndrome 11/2018
1	Microcephaly 11/2018
1	Perinatal Death 01/2018
1	SHORT syndrome 10/2017
1	Dyskinesias (Dyskinesia) 10/2016
1	Epilepsy (Aura) 07/2016
1	Persistent Fetal Circulation Syndrome 05/2016
1	Chronic Renal Insufficiency 01/2016
1	Angiomyolipoma 01/2016
1	Hemorrhage 01/2016
1	Type IV Ehlers-Danlos Syndrome 08/2015
1	Osteogenesis Imperfecta (Lobstein Disease) 08/2015
1	Protein Deficiency 08/2015
1	Rupture 08/2015
1	Hearing Loss (Hearing Impairment) 03/2015
1	Scoliosis 03/2015
1	Neoplasms (Cancer) 04/2012
1	Lymphangioleiomyomatosis (Lymphangiomyomatosis) 01/2008
1	Fetal Diseases (Embryopathy) 01/2005
1	Neurofibromatosis-Noonan syndrome 05/2003

Drug/Important Bio-Agent (IBA)

5	trans-sodium crocetinate (crocetin)IBA 01/2019 - 01/2010
3	Proteins (Proteins, Gene)FDA Link 10/2022 - 04/2011
2	Sirolimus (Rapamycin)FDA Link 01/2016 - 01/2008
1	EnzymesIBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	DolicholsIBA 01/2022
1	Small Nucleolar RNA (snoRNA)IBA 01/2021
1	cyclic guanosine monophosphate-adenosine monophosphateIBA 12/2020
1	InterferonsIBA 12/2020
1	Glucose Transporter Type 1IBA 11/2018
1	F-Box ProteinsIBA 01/2018
1	DNA (Deoxyribonucleic Acid)IBA 01/2018
1	Protein Kinases (Protein Kinase)IBA 10/2017
1	Levodopa (L Dopa)FDA LinkGeneric 10/2016
1	Peptide Elongation Factors (Elongation Factor)IBA 07/2016
1	Long Noncoding RNAIBA 05/2016
1	TOR Serine-Threonine KinasesIBA 01/2016
1	MTOR InhibitorsIBA 01/2016
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2016
1	Everolimus FDA Link 01/2016
1	alpha2 Subunit Collagen Type IIBA 08/2015
1	CollagenIBA 08/2015
1	Collagen Type III (Type III Collagen)IBA 08/2015
1	ChromatinIBA 04/2012
1	CarbimazoleIBA 01/2005
1	Neurofibromin 1 (Neurofibromin)IBA 05/2003

Therapy/Procedure

2	Therapeutics 01/2016 - 01/2008
1	Ketogenic Diet 11/2018
1	Osteotomy 03/2015
1	Orthopedic Procedures 03/2015
1	Hearing Aids (Hearing Aid) 03/2015