Stephan Züchner Selected Research

Hereditary Spastic Paraplegia

1/2019	FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
12/2017	Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
10/2015	Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
6/2014	Motor protein mutations cause a new form of hereditary spastic paraplegia.
11/2013	Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
2/2013	Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
2/2012	Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
4/2008	REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
7/2007	The genetics of hereditary spastic paraplegia and implications for drug therapy.
8/2006	Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

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Stephan Züchner Research Topics

Disease

10	Hereditary Spastic Paraplegia 01/2019 - 08/2006
8	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2018 - 03/2005
6	Peripheral Nervous System Diseases (PNS Diseases) 01/2018 - 10/2010
4	Dystonia (Limb Dystonia) 01/2022 - 09/2010
4	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2021 - 01/2018
4	Ataxia (Dyssynergia) 01/2021 - 04/2014
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 01/2014
3	Paraplegia (Spastic Paraplegia) 09/2015 - 02/2012
3	Parkinson Disease (Parkinson's Disease) 03/2013 - 02/2008
2	Cerebellar Ataxia (Dysmetria) 01/2022 - 01/2021
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 06/2014
2	Neuroblastoma 01/2017 - 08/2012
2	Polyneuropathies (Polyneuropathy) 01/2016 - 11/2014
2	Dementia (Dementias) 01/2016 - 05/2014
2	Parkinsonian Disorders (Parkinsonism) 09/2015 - 10/2010
2	Alzheimer Disease (Alzheimer's Disease) 08/2012 - 11/2007
1	Migraine Disorders (Migraine) 01/2022
1	Medulloblastoma 01/2021
1	Lethargy 01/2021
1	Delayed Emergence from Anesthesia 01/2021
1	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 10/2020
1	Spastic ataxia Charlevoix-Saguenay type 01/2020
1	Neurilemmoma (Schwannoma) 01/2019
1	Fatty Acid Hydroxylase-Associated Neurodegeneration 01/2019
1	Bilateral Vestibulopathy 01/2019
1	3 X-linked recessive Charcot-Marie-Tooth disease 01/2018
1	Unconsciousness (Loss of Consciousness) 01/2018
1	Frontotemporal Dementia (Semantic Dementia) 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018
1	Amnesia (Dissociative Amnesia) 01/2018
1	Hypoxia (Hypoxemia) 02/2017
1	Gait Ataxia 12/2015
1	Muscular Atrophy (Muscle Atrophy) 12/2015
1	Tremor (Tremors) 12/2015
1	Atrophy 12/2015
1	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 10/2015
1	Rare Diseases (Rare Disease) 10/2015
1	Cognitive Dysfunction 09/2015
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 07/2015
1	Brain Diseases (Brain Disorder) 04/2015
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 03/2015
1	Diabetes Mellitus 12/2014
1	Type 2D Charcot-Marie-Tooth disease 11/2014
1	Neoplasms (Cancer) 11/2014
1	Optic Nerve Diseases (Optic Neuropathy) 08/2014
1	Brown-Vialetto-Van Laere syndrome 01/2014

Drug/Important Bio-Agent (IBA)

16	Proteins (Proteins, Gene)FDA Link 01/2021 - 02/2006
2	Heat-Shock Proteins (Heat-Shock Protein)IBA 02/2020 - 12/2019
2	Biomarkers (Surrogate Marker)IBA 01/2020 - 12/2017
2	Pharmaceutical PreparationsIBA 01/2019 - 11/2014
2	Histidine-tRNA LigaseIBA 01/2018 - 01/2013
2	Amyloid (Amyloid Fibrils)IBA 01/2016 - 08/2012
2	MMEIBA 01/2016 - 10/2015
2	NucleotidesIBA 10/2015 - 08/2014
2	Paclitaxel (Taxol)FDA LinkGeneric 10/2015 - 11/2014
2	Nonsense Codon (Nonsense Mutation)IBA 09/2015 - 04/2003
2	Dynamin IIIBA 07/2009 - 03/2005
2	Brain-Derived Neurotrophic Factor (BDNF)IBA 10/2008 - 04/2008
1	Adenosine Triphosphatases (ATPase)IBA 01/2022
1	NAD+ Nucleosidase (NAD(P) Nucleosidase)IBA 11/2021
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2021
1	Propofol (Diprivan)FDA LinkGeneric 01/2021
1	LipidsIBA 01/2021
1	Glycine Plasma Membrane Transport ProteinsIBA 01/2021
1	DystoninIBA 10/2020
1	Protein Isoforms (Isoforms)IBA 10/2020
1	Replication Protein C (Replication Factor C)IBA 01/2019
1	IronIBA 01/2019
1	General AnestheticsIBA 01/2018
1	Messenger RNA (mRNA)IBA 01/2018
1	Phosphotransferases (Kinase)IBA 01/2018
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 02/2017
1	Trans-Activators (Trans-Acting Factor)IBA 02/2017
1	Caspase 3 (Caspase-3)IBA 01/2017
1	neurofilament protein LIBA 01/2017
1	Neprilysin (Neutral Endopeptidase)IBA 01/2016
1	Metalloproteases (Metalloproteinases)IBA 01/2016
1	milk-derived factorIBA 12/2015
1	SynucleinsIBA 10/2015
1	dystrophin-related protein 2IBA 10/2015
1	DystrophinIBA 10/2015
1	PotassiumIBA 07/2015
1	Kv1.2 Potassium ChannelIBA 04/2015
1	ForminsIBA 03/2015
1	Carrier Proteins (Binding Protein)IBA 12/2014
1	Immunoglobulin Heavy Chains (Immunoglobulin Heavy Chain)IBA 12/2014
1	Glycine-tRNA LigaseIBA 11/2014
1	KinesinsIBA 06/2014
1	Adenosine Triphosphate (ATP)IBA 06/2014
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 05/2014
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2014
1	Phospholipases (Phospholipase)IBA 11/2013
1	Pyruvic Acid (Pyruvate)IBA 04/2013
1	Pyruvate Dehydrogenase Acetyl-Transferring KinaseIBA 04/2013
1	IsoenzymesIBA 04/2013
1	Aligeron (AS 2)IBA 03/2013
1	Eukaryotic Initiation Factor-4G (Eukaryotic Initiation Factor 4G)IBA 03/2013

Therapy/Procedure

4	Drug Therapy (Chemotherapy) 10/2015 - 06/2007
2	Therapeutics 01/2021 - 01/2018
1	Analgesia 01/2018