Rebecca Schüle Selected Research

DNA (Deoxyribonucleic Acid)

1/2017	Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
8/2012	A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

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Rebecca Schüle Research Topics

Disease

20	Hereditary Spastic Paraplegia 01/2023 - 04/2008
8	Paraplegia (Spastic Paraplegia) 01/2024 - 05/2008
7	Ataxia (Dyssynergia) 04/2024 - 02/2014
7	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023 - 07/2011
4	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2021 - 01/2018
3	Brain Diseases (Brain Disorder) 01/2023 - 04/2015
2	Rare Diseases (Rare Disease) 02/2024 - 01/2017
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 01/2020
2	Parkinsonian Disorders (Parkinsonism) 01/2023 - 01/2017
2	Disease Progression 01/2023 - 07/2018
2	Atrophy 01/2023 - 12/2015
2	Optic Nerve Diseases (Optic Neuropathy) 01/2020 - 08/2014
2	Cerebellar Ataxia (Dysmetria) 10/2019 - 09/2015
2	Gaucher Disease (Gaucher's Disease) 01/2019 - 09/2015
2	Optic Atrophy 08/2015 - 04/2009
2	Paresis (Hemiparesis) 11/2014 - 04/2010
2	Muscle Spasticity (Spastic) 11/2014 - 04/2010
1	Friedreich Ataxia (Friedreich's Ataxia) 01/2024
1	Bone Resorption 01/2024
1	Metabolic Bone Diseases (Osteopenia) 01/2024
1	Polyneuropathies (Polyneuropathy) 01/2023
1	Neurologic Gait Disorders (Gait, Hemiplegic) 12/2022
1	Chronic Progressive Multiple Sclerosis 11/2022
1	Spastic Paraplegia Type 4 01/2022
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2022
1	Cerebellar Diseases (Cerebellar Syndrome) 01/2022
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2020
1	Diabetic Neuropathies (Diabetic Neuropathy) 01/2020
1	Machado-Joseph Disease (Spinocerebellar Ataxia Type 3) 01/2020
1	Dystonia (Limb Dystonia) 01/2019
1	Fatty Acid Hydroxylase-Associated Neurodegeneration 01/2019
1	Frontotemporal Dementia (Semantic Dementia) 01/2018
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2017
1	Kufor-Rakeb syndrome 01/2017
1	Neutropenia 10/2016
1	Invasive Pulmonary Aspergillosis 10/2016
1	autosomal recessive Candidiasis familial chronic mucocutaneous 10/2016
1	Gait Ataxia 12/2015
1	Muscular Atrophy (Muscle Atrophy) 12/2015
1	Tremor (Tremors) 12/2015
1	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 10/2015
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 07/2015
1	Diabetes Mellitus 12/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2014
1	Cerebrotendinous Xanthomatosis 11/2014
1	Intellectual Disability (Idiocy) 02/2014
1	Tonic-Clonic Epilepsy (Epilepsy, Tonic Clonic) 02/2014

Drug/Important Bio-Agent (IBA)

15	Biomarkers (Surrogate Marker)IBA 01/2023 - 12/2017
13	Proteins (Proteins, Gene)FDA Link 12/2020 - 04/2008
4	EnzymesIBA 01/2020 - 11/2014
3	sperm releasing substanceIBA 01/2023 - 01/2022
2	Heat-Shock Proteins (Heat-Shock Protein)IBA 02/2020 - 12/2019
2	Nonsense Codon (Nonsense Mutation)IBA 01/2020 - 04/2009
2	Glucosylceramidase (Glucocerebrosidase)IBA 01/2019 - 02/2013
2	DNA (Deoxyribonucleic Acid)IBA 01/2017 - 08/2012
2	NucleotidesIBA 08/2014 - 05/2008
2	KinesinsIBA 06/2014 - 05/2008
1	Calcifediol (Calcidiol)FDA Link 01/2024
1	collagen type I trimeric cross-linked peptideIBA 01/2024
1	Calcitriol (Calcijex)FDA LinkGeneric 01/2024
1	Collagen Type I (Type I Collagen)IBA 01/2024
1	Cholecalciferol (Vitamin D3)FDA Link 01/2024
1	EndocannabinoidsIBA 01/2023
1	Levodopa (L Dopa)FDA LinkGeneric 01/2023
1	Mitochondrial DNA (mtDNA)IBA 01/2023
1	OligonucleotidesIBA 01/2023
1	Glial Fibrillary Acidic ProteinIBA 11/2022
1	NAD+ Nucleosidase (NAD(P) Nucleosidase)IBA 11/2021
1	polyolIBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 01/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2020
1	FructoseIBA 01/2020
1	Sorbitol (Yal)FDA Link 01/2020
1	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020
1	Protein Isoforms (Isoforms)IBA 10/2019
1	Inositol 1,4,5-TrisphosphateIBA 10/2019
1	Inositol 1,4,5-Trisphosphate Receptors (Inositol Triphosphate Receptor)IBA 10/2019
1	UbiquitinIBA 01/2019
1	IronIBA 01/2019
1	PhosphatidylglycerolsIBA 01/2018
1	Phosphotransferases (Kinase)IBA 01/2018
1	LipidsIBA 01/2018
1	Mutant Proteins (Protein, Mutant)IBA 01/2017
1	lipopigmentsIBA 01/2017
1	Chemotactic FactorsIBA 10/2016
1	Cytochrome P450 Family 7IBA 01/2016
1	Peptides (Polypeptides)IBA 01/2016
1	milk-derived factorIBA 12/2015
1	SynucleinsIBA 10/2015
1	Glucosylceramides (Glucocerebrosides)IBA 09/2015
1	PotassiumIBA 07/2015
1	Kv1.2 Potassium ChannelIBA 04/2015
1	Immunoglobulin Heavy Chains (Immunoglobulin Heavy Chain)IBA 12/2014
1	Carrier Proteins (Binding Protein)IBA 12/2014
1	cholestenoic acidIBA 11/2014

Therapy/Procedure

3	Activities of Daily Living (ADL) 04/2024 - 01/2021
2	Therapeutics 02/2024 - 01/2022
1	Surgical Instruments (Clip) 01/2023
1	Drug Therapy (Chemotherapy) 10/2016
1	Transplantation 10/2016