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Stefan M Pulst Selected Research

Spinocerebellar ataxia 13

11/2014KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.
3/2011Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

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Stefan M Pulst Research Topics

Disease

23Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2022 - 07/2003
10Neurodegenerative Diseases (Neurodegenerative Disease)
11/2021 - 12/2003
9Ataxia (Dyssynergia)
12/2018 - 12/2007
6Huntington Disease (Huntington's Disease)
11/2021 - 02/2015
4Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
01/2020 - 12/2014
3Parkinson Disease (Parkinson's Disease)
10/2021 - 01/2019
3Spinal Muscular Atrophy (Progressive Muscular Atrophy)
04/2019 - 01/2018
2Parkinsonian Disorders (Parkinsonism)
01/2021 - 10/2003
2Disease Progression
01/2020 - 02/2015
2Tremor (Tremors)
12/2019 - 01/2017
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
04/2019 - 01/2019
2Dystonia (Limb Dystonia)
12/2017 - 01/2005
2Spinocerebellar ataxia 13
11/2014 - 03/2011
2Obesity
12/2009 - 07/2009
1Nervous System Diseases (Neurological Disorders)
06/2022
1Glaucoma
01/2022
1Neuroblastoma
11/2021
1Synucleinopathies
10/2021
1Pontocerebellar Hypoplasia
01/2021
1Microcephaly
01/2021
1Dementia (Dementias)
01/2021
1Alzheimer Disease (Alzheimer's Disease)
04/2019
1Movement Disorders (Movement Disorder)
01/2019
1Cerebellar Ataxia (Dysmetria)
01/2018
1Brain Diseases (Brain Disorder)
02/2017
1Neurodegeneration with brain iron accumulation (NBIA)
02/2017
1Inborn Genetic Diseases (Disease, Hereditary)
02/2017
1TDP-43 Proteinopathies
01/2017
1Frontotemporal Dementia (Semantic Dementia)
01/2017
1Clinical Deterioration
02/2015
1Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
02/2014
1Mitochondrial Diseases (Mitochondrial Disease)
02/2014
1Brain Injuries (Brain Injury)
01/2013
1Weight Gain
12/2009
1Learning Disabilities (Learning Disability)
09/2009
1Neurilemmoma (Schwannoma)
12/2002
1Neoplasms (Cancer)
12/2002
1Neurofibromatosis 2 (Neurofibromatosis Type II)
12/2002

Drug/Important Bio-Agent (IBA)

12Ataxin-2IBA
01/2022 - 07/2003
9polyglutamineIBA
01/2022 - 07/2003
5Proteins (Proteins, Gene)FDA Link
01/2021 - 12/2007
4Antisense OligonucleotidesIBA
04/2019 - 01/2017
3RNA-Binding Proteins (RNA-Binding Protein)IBA
01/2022 - 01/2020
3RNA (Ribonucleic Acid)IBA
11/2021 - 01/2017
3Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA
11/2014 - 04/2006
2DNA (Deoxyribonucleic Acid)IBA
10/2020 - 03/2011
2tributyl phosphate (TBP)IBA
12/2017 - 01/2017
2Mitochondrial DNA (mtDNA)IBA
02/2014 - 09/2009
1Complement System Proteins (Complement)IBA
06/2022
1Ribosomal RNAIBA
11/2021
1Caspase 3 (Caspase-3)IBA
11/2021
1SynucleinsIBA
10/2021
1A 443654IBA
10/2021
1Peptidylprolyl Isomerase (Prolyl Isomerase)IBA
01/2021
1MicroRNAs (MicroRNA)IBA
01/2021
1TOR Serine-Threonine KinasesIBA
01/2021
1Ion Channels (Ion Channel)IBA
11/2020
1Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
10/2020
1src-Family KinasesIBA
12/2018
1EnzymesIBA
01/2018
1IsoenzymesIBA
01/2018
1OligonucleotidesIBA
01/2018
1Protein Kinase CIBA
01/2018
1nusinersenIBA
01/2018
1protein kinase C gamma (PRKCG)IBA
01/2018
1Potassium Channels (Potassium Channel)IBA
10/2017
1IronIBA
02/2017
1NucleotidesIBA
01/2016
1CalciumIBA
01/2016
1Glutamine (L-Glutamine)FDA Link
04/2015
1Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
02/2015
1coenzyme Q10 (CoQ10)IBA
02/2015
1Pharmaceutical PreparationsIBA
02/2015
1Vitamin EFDA LinkGeneric
02/2015
1Phosphotransferases (Kinase)IBA
02/2014
1Sirolimus (Rapamycin)FDA Link
02/2014
1Ethanol (Ethyl Alcohol)IBA
01/2013
1LeptinIBA
12/2009
1Leptin ReceptorsIBA
12/2009
1Antipsychotic Agents (Antipsychotics)IBA
12/2009
1Ataxin-1IBA
12/2007
1Staphylococcal Protein A (Protein A)IBA
01/2005
1Adenosine Triphosphatases (ATPase)IBA
01/2005
1Synaptotagmins (Synaptotagmin)IBA
10/2003
1hepatocyte growth factor-regulated tyrosine kinase substrateIBA
12/2002
1Neurofibromin 2 (Merlin)IBA
12/2002

Therapy/Procedure

9Therapeutics
06/2022 - 06/2016