Jonas Denecke Selected Research

Congenital disorder of glycosylation type 1D

8/2005	Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.
5/2004	An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).

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Jonas Denecke Research Topics

Disease

4	Congenital Disorders of Glycosylation 11/2009 - 07/2005
3	Neurodevelopmental Disorders 01/2021 - 10/2018
3	Brain Diseases (Brain Disorder) 01/2018 - 04/2015
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022 - 01/2021
2	Seizures (Absence Seizure) 01/2021 - 01/2017
2	Disease Progression 01/2021 - 01/2021
2	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2021 - 01/2017
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021 - 01/2017
2	Pelizaeus-Merzbacher Disease 10/2019 - 01/2019
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019 - 03/2004
2	AIDS-Related Complex (ARC) 04/2010 - 10/2006
2	Anemia 05/2008 - 12/2003
2	Progeria (Hutchinson Gilford Syndrome) 06/2006 - 01/2005
2	Congenital disorder of glycosylation type 1D 08/2005 - 05/2004
1	Autism Spectrum Disorder 10/2021
1	Mucolipidoses (Sialidosis) 03/2021
1	Floating-harbor syndrome 01/2021
1	Infections 01/2021
1	Congenital Abnormalities (Deformity) 01/2021
1	Rare Diseases (Rare Disease) 12/2020
1	Neoplasms (Cancer) 12/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020
1	Carcinogenesis 12/2020
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Snijders Blok-Campeau syndrome 10/2020
1	Neuromuscular Diseases (Neuromuscular Disease) 07/2020
1	Epilepsy (Aura) 12/2019
1	Body Weight (Weight, Body) 10/2017
1	Intellectual Disability (Idiocy) 09/2017
1	Atrophy 09/2017
1	Infantile Spasms (West Syndrome) 09/2017
1	Blindness (Hysterical Blindness) 01/2017
1	Movement Disorders (Movement Disorder) 06/2016
1	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 04/2015
1	Thrombocytopenia (Thrombopenia) 10/2011
1	Cakut 01/2011
1	Congenital Dyserythropoietic Anemia (Dyserythropoietic Anemia, Congenital) 05/2008
1	Perinatal Death 06/2006
1	Premature Aging 06/2006
1	Muscular Diseases (Myopathy) 01/2005
1	Laminopathies 09/2004
1	Congenital disorder of glycosylation type 1K 03/2004
1	Gallstones (Gallstone) 12/2003
1	Thalassemia 12/2003
1	Iron Overload 12/2003

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2021 - 06/2006
4	EnzymesIBA 03/2021 - 03/2004
4	MannosyltransferasesIBA 01/2019 - 03/2004
3	nusinersenIBA 01/2022 - 01/2021
2	Biomarkers (Surrogate Marker)IBA 01/2021 - 07/2009
2	Nonsense Codon (Nonsense Mutation)IBA 09/2017 - 05/2004
2	LipidsIBA 11/2009 - 07/2009
2	DolicholsIBA 09/2009 - 03/2004
2	Lamin Type A (Lamin A)IBA 06/2006 - 01/2005
2	Polysaccharides (Glycans)IBA 08/2005 - 03/2004
1	ZolgensmaIBA 01/2022
1	Protein Isoforms (Isoforms)IBA 10/2021
1	RNA (Ribonucleic Acid)IBA 01/2021
1	Amino Acids FDA Link 01/2021
1	Histones (Histone)IBA 12/2020
1	DNA HelicasesIBA 10/2020
1	VitaminsIBA 12/2019
1	p21-Activated KinasesIBA 10/2018
1	WW Domain-Containing OxidoreductaseIBA 01/2018
1	Voltage-Gated Sodium ChannelsIBA 10/2017
1	6- amino- 1- hydroxyhexane- 1,1- diphosphonateIBA 10/2017
1	SpectrinIBA 09/2017
1	Tripeptidyl-Peptidase 1IBA 01/2017
1	Anticonvulsants (Antiepileptic Drugs)IBA 06/2016
1	Valproic Acid (Depakote)FDA LinkGeneric 06/2016
1	Asialoglycoprotein ReceptorIBA 10/2011
1	DNA (Deoxyribonucleic Acid)IBA 01/2011
1	Cadherins (E-Cadherin)IBA 04/2010
1	Phosphates (Orthophosphate)IBA 09/2009
1	SNARE Proteins (SNAREs)IBA 10/2006
1	Membrane Proteins (Integral Membrane Proteins)IBA 10/2006
1	ZincIBA 06/2006
1	Metalloproteases (Metalloproteinases)IBA 06/2006
1	prelamin AIBA 06/2006
1	Fetal Proteins (Fetoprotein)IBA 08/2005
1	AnionsIBA 07/2005
1	LaminsIBA 09/2004
1	mannosyl(5)-N-acetyl(2)-glucoseIBA 05/2004
1	RNA Splice SitesIBA 05/2004
1	chitobioseIBA 03/2004

Therapy/Procedure

2	Therapeutics 01/2022 - 07/2020
2	Ketogenic Diet 10/2019 - 01/2019
1	Hematopoietic Stem Cell Transplantation 03/2021
1	Enzyme Replacement Therapy 01/2021
1	Intraventricular Infusions 01/2021
1	Artificial Respiration (Mechanical Ventilation) 12/2020
1	Mechanical Ventilators (Ventilator) 07/2020
1	Lasers (Laser) 07/2005
1	Cholecystectomy 12/2003
1	Splenectomy 12/2003