Peter De Jonghe Selected Research

Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)

7/2015

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.

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Peter De Jonghe Research Topics

Disease

11	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 11/2017 - 06/2002
10	Epilepsy (Aura) 12/2019 - 01/2006
9	Brain Diseases (Brain Disorder) 12/2019 - 01/2004
8	Peripheral Nervous System Diseases (PNS Diseases) 01/2024 - 03/2002
8	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2021 - 06/2004
7	Myoclonic Epilepsies (Myoclonic Encephalopathy) 12/2018 - 08/2009
6	Seizures (Absence Seizure) 01/2016 - 07/2008
5	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 06/2004
5	Frontotemporal Dementia (Semantic Dementia) 01/2021 - 08/2009
5	Hereditary Spastic Paraplegia 01/2019 - 01/2011
4	Hereditary Sensory and Autonomic Neuropathies (HSAN) 10/2010 - 10/2002
3	Muscular Diseases (Myopathy) 01/2021 - 04/2019
3	Muscle Weakness 04/2019 - 03/2003
3	Cognitive Dysfunction 01/2017 - 11/2013
3	Dyskinesias (Dyskinesia) 07/2012 - 07/2008
2	Nervous System Diseases (Neurological Disorders) 01/2024 - 12/2018
2	Proteostasis Deficiencies 01/2021 - 01/2020
2	Muscular Dystrophies (Muscular Dystrophy) 01/2018 - 03/2016
2	Parkinson Disease (Parkinson's Disease) 01/2017 - 01/2010
2	Pain (Aches) 07/2015 - 11/2013
2	Paraplegia (Spastic Paraplegia) 04/2015 - 02/2012
2	Fever (Fevers) 12/2014 - 11/2013
2	Febrile Seizures (Febrile Seizure) 12/2014 - 01/2006
2	Epileptic Syndromes 12/2014 - 11/2013
2	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 09/2014 - 05/2012
2	Isaacs Syndrome (Neuromyotonia) 06/2014 - 10/2012
2	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions) 04/2014 - 07/2012
2	Type 2I Charcot-Marie-Tooth disease 08/2012 - 08/2010
2	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 05/2008 - 03/2004
2	Infections 03/2003 - 03/2003
2	Foot Ulcer 03/2003 - 03/2003
1	Ataxia (Dyssynergia) 01/2024
1	Paraproteinemias (Monoclonal Gammopathy) 11/2021
1	Osteitis Deformans (Paget's Disease of Bone) 01/2020
1	Microcephaly 12/2019
1	Dystonia (Limb Dystonia) 01/2019
1	Fatty Acid Hydroxylase-Associated Neurodegeneration 01/2019
1	Atrophy 12/2018
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 12/2018
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018
1	Disease Progression 11/2017
1	Dementia (Dementias) 01/2017
1	Drug Resistant Epilepsy 01/2016
1	Parkinsonian Disorders (Parkinsonism) 01/2016
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 07/2015
1	Schizophrenia (Dementia Praecox) 01/2015
1	Disease Susceptibility (Diathesis) 09/2014
1	Myofibrillar Myopathy 08/2014

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 01/2021 - 11/2002
4	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2024 - 05/2015
4	Sodium Channels (Sodium Channel)IBA 12/2018 - 08/2009
4	Small Heat-Shock ProteinsIBA 08/2012 - 06/2004
4	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 09/2011 - 07/2008
3	Dynamin IIIBA 07/2009 - 03/2005
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2020 - 04/2019
2	Phosphotransferases (Kinase)IBA 01/2018 - 01/2017
2	Histidine-tRNA LigaseIBA 01/2018 - 08/2015
2	gephyrinIBA 12/2017 - 12/2015
2	Biomarkers (Surrogate Marker)IBA 12/2017 - 11/2017
2	Messenger RNA (mRNA)IBA 11/2017 - 01/2016
2	UbiquitinIBA 01/2016 - 08/2009
2	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2016 - 01/2014
2	EnzymesIBA 08/2015 - 10/2010
2	PotassiumIBA 07/2015 - 03/2014
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2015 - 01/2010
2	Ion Channels (Ion Channel)IBA 01/2015 - 01/2014
2	Glucose (Dextrose)FDA LinkGeneric 09/2011 - 07/2008
2	Serine C-PalmitoyltransferaseIBA 10/2010 - 10/2002
2	Amino Acids FDA Link 09/2009 - 03/2005
1	asparaginyl-tRNA synthetaseIBA 01/2024
1	AntibodiesIBA 11/2021
1	Heterogeneous-Nuclear Ribonucleoproteins (Informatin)IBA 01/2021
1	Heterogeneous Nuclear Ribonucleoprotein A1IBA 01/2021
1	Valosin Containing ProteinIBA 01/2020
1	Valine-tRNA LigaseIBA 12/2019
1	IronIBA 01/2019
1	SpectrinIBA 01/2019
1	PoisonsIBA 12/2018
1	RNA (Ribonucleic Acid)IBA 12/2018
1	eteplirsenIBA 12/2018
1	nusinersenIBA 12/2018
1	T-Cell Intracellular Antigen-1IBA 01/2018
1	TransferasesIBA 01/2018
1	Nonsense Codon (Nonsense Mutation)IBA 01/2017
1	Choline KinaseIBA 03/2016
1	Cystatin CIBA 01/2016
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2016
1	Ascorbic Acid (Vitamin C)FDA LinkGeneric 12/2015
1	Citric Acid (Citrate)FDA LinkGeneric 11/2015
1	Indicators and Reagents (Reagents)IBA 11/2015
1	Ligases (Synthetase)IBA 08/2015
1	Transfer RNA (tRNA)IBA 08/2015
1	Adaptor Protein Complex 4IBA 04/2015
1	Kv1.2 Potassium ChannelIBA 04/2015
1	Syntaxin 1IBA 12/2014
1	NucleotidesIBA 06/2014
1	Carrier Proteins (Binding Protein)IBA 06/2014

Therapy/Procedure

4	Therapeutics 07/2015 - 01/2006
3	Surgical Amputation (Amputations) 01/2011 - 03/2003
1	Induced Hyperthermia (Thermotherapy) 12/2015