Ulrike Schara Selected Research

Diaphanospondylodysostosis

12/2021

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

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Ulrike Schara Research Topics

Disease

14	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 12/2020 - 11/2010
6	Muscular Dystrophies (Muscular Dystrophy) 01/2020 - 01/2004
5	Disease Progression 11/2022 - 05/2008
5	Muscular Diseases (Myopathy) 01/2021 - 05/2008
5	Mitochondrial Diseases (Mitochondrial Disease) 12/2020 - 02/2011
5	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 11/2017 - 03/2003
4	Muscle Weakness 01/2021 - 11/2010
3	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2023 - 01/2021
3	Myasthenia Gravis 01/2021 - 04/2014
3	Cardiomyopathies (Cardiomyopathy) 10/2019 - 10/2014
3	Liver Failure 02/2016 - 02/2011
3	Congenital Structural Myopathies (Centronuclear Myopathy) 06/2013 - 04/2003
3	Infections 07/2010 - 11/2004
2	Muscular Atrophy (Muscle Atrophy) 07/2020 - 01/2017
2	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 01/2014
2	Cognitive Dysfunction 01/2019 - 01/2014
2	Microcephaly 01/2019 - 01/2014
2	Liver Diseases (Liver Disease) 01/2016 - 01/2011
2	Myotonic Dystrophy (Dystrophia Myotonica) 06/2013 - 06/2006
2	Seizures (Absence Seizure) 03/2013 - 07/2010
2	Respiratory Insufficiency (Respiratory Failure) 10/2006 - 11/2004
1	Type 2D Charcot-Marie-Tooth disease 11/2022
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 11/2022
1	Diaphanospondylodysostosis 12/2021
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 07/2021
1	Motor Neuron Disease (Primary Lateral Sclerosis) 07/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Cough 01/2021
1	Contracture 01/2021
1	recessive Cutis laxa 01/2021
1	Cutis Laxa 01/2021
1	Sarcoglycanopathies 01/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020
1	Left Ventricular Dysfunction 10/2019
1	Fibrosis (Cirrhosis) 01/2019
1	Rolandic Epilepsy (Centrotemporal Epilepsy) 03/2018
1	Hirsutism 01/2017
1	Absent corpus callosum cataract immunodeficiency 03/2016
1	Neurodevelopmental Disorders 03/2016
1	Hypercholesterolemia 02/2016
1	Hypoxia (Hypoxemia) 01/2016
1	Ischemia 09/2015
1	Headache (Headaches) 05/2015
1	Nasopharyngitis 05/2015
1	Leukoencephalopathies 01/2015
1	Myalgia 10/2014

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 11/2022 - 03/2003
5	idebenoneIBA 01/2020 - 06/2011
4	Creatine Kinase (Creatine Phosphokinase)IBA 01/2019 - 07/2002
3	Biomarkers (Surrogate Marker)IBA 11/2022 - 01/2018
3	SteroidsIBA 05/2018 - 11/2010
3	Cholinergic ReceptorsIBA 01/2017 - 10/2006
2	EnzymesIBA 01/2021 - 02/2011
2	Mitochondrial DNA (mtDNA)IBA 12/2020 - 02/2011
2	Amino Acids FDA Link 12/2020 - 01/2015
2	Nonsense Codon (Nonsense Mutation)IBA 10/2020 - 01/2017
2	atalurenIBA 10/2020 - 01/2017
2	Caveolin 3IBA 01/2020 - 07/2002
2	GlucocorticoidsIBA 09/2015 - 05/2015
2	DystrophinIBA 01/2014 - 01/2004
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 06/2012 - 09/2011
2	Cholinesterase Inhibitors (Anticholinesterases)IBA 10/2006 - 11/2004
2	peripheral membrane protein 43KIBA 10/2006 - 11/2004
1	Neural Cell Adhesion Molecules (Neural Cell Adhesion Molecule)IBA 11/2022
1	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 12/2021
1	SphingolipidsIBA 07/2021
1	Proline (L-Proline)FDA Link 01/2021
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	eculizumab FDA Link 01/2021
1	AmifampridineIBA 01/2020
1	Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric 01/2020
1	Enalapril FDA LinkGeneric 10/2019
1	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 10/2019
1	Metoprolol (Toprol-XL)FDA LinkGeneric 10/2019
1	sulthiame (sultiam)IBA 03/2018
1	Levetiracetam (Keppra)FDA LinkGeneric 03/2018
1	choline transporterIBA 11/2017
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2017
1	GlycogenIBA 03/2016
1	CopperIBA 02/2016
1	Transaminases (Aminotransferases)IBA 02/2016
1	Alkaline PhosphataseIBA 02/2016
1	InterferonsIBA 01/2016
1	Arginine (L-Arginine)FDA Link 09/2015
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 09/2015
1	N(G),N(G')-dimethylarginineIBA 09/2015
1	HomoarginineIBA 09/2015
1	N,N-dimethylarginine (asymmetric dimethylarginine)IBA 09/2015
1	Protein Isoforms (Isoforms)IBA 06/2015
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 06/2015
1	Ligases (Synthetase)IBA 01/2015
1	Alanine-tRNA LigaseIBA 01/2015
1	AntibodiesIBA 04/2014

Therapy/Procedure

8	Therapeutics 01/2023 - 07/2010
2	Palliative Care (Palliative Therapy) 12/2020 - 12/2010
1	Denervation 11/2022
1	Wearable Electronic Devices 01/2021
1	Thymectomy 01/2017
1	Liver Transplantation 02/2016
1	Transplantation 01/2016