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Benedikt Schoser Selected Research

Type 2G Limb-Girdle Muscular Dystrophy

1/2018Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
9/2017Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

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Benedikt Schoser Research Topics

Disease

33Glycogen Storage Disease Type II (Pompe's Disease)
06/2024 - 10/2008
21Myotonic Dystrophy (Dystrophia Myotonica)
10/2023 - 08/2009
21Muscular Diseases (Myopathy)
04/2023 - 09/2008
9Muscle Weakness
10/2022 - 11/2011
7Neuromuscular Diseases (Neuromuscular Disease)
10/2023 - 07/2019
7Muscular Dystrophies (Muscular Dystrophy)
01/2020 - 06/2011
6Myasthenia Gravis
11/2023 - 03/2009
6Myalgia
12/2021 - 08/2004
6Cardiomyopathies (Cardiomyopathy)
09/2017 - 09/2008
5Pain (Aches)
12/2023 - 11/2017
5Disease Progression
01/2023 - 11/2011
4Fatigue
12/2023 - 11/2017
4Sarcopenia
11/2023 - 01/2019
4Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2022 - 06/2012
4Myofibrillar Myopathy
12/2012 - 07/2009
3Headache (Headaches)
12/2023 - 05/2016
3Congenital Structural Myopathies (Centronuclear Myopathy)
12/2023 - 07/2015
3Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
06/2023 - 11/2013
3Myotonia
01/2022 - 01/2018
3Atrophy
01/2022 - 01/2018
3Frontotemporal Dementia (Semantic Dementia)
01/2022 - 10/2010
3Ataxia (Dyssynergia)
01/2020 - 07/2013
3Vacuolar myopathy
10/2019 - 11/2008
3Cataract (Cataracts)
01/2018 - 04/2010
2Inborn Genetic Diseases (Disease, Hereditary)
06/2024 - 01/2008
2Sleepiness
10/2023 - 11/2014
2Mitochondrial Diseases (Mitochondrial Disease)
01/2023 - 05/2012
2Osteitis Deformans (Paget's Disease of Bone)
01/2022 - 10/2010
2Sarcoglycanopathies
01/2020 - 06/2012
2Neurodegenerative Diseases (Neurodegenerative Disease)
01/2020 - 12/2018
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
01/2020 - 01/2015
2Rupture
07/2019 - 07/2019
2Cognitive Dysfunction
01/2019 - 03/2017
2Type 2G Limb-Girdle Muscular Dystrophy
01/2018 - 09/2017
2Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton Syndrome)
09/2017 - 05/2016
2Nausea
05/2017 - 05/2016
2Intellectual Disability (Idiocy)
03/2017 - 07/2013
2Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2015 - 01/2011
2Rhabdomyolysis
11/2014 - 12/2010
2Glycogen Storage Disease Type V (McArdle's Disease)
11/2014 - 12/2010
2Acute Kidney Injury (Acute Renal Failure)
11/2014 - 12/2010
2Myoglobinuria
11/2014 - 12/2010
2Distal Myopathies (Distal Muscular Dystrophy)
08/2011 - 04/2010
2Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
04/2010 - 09/2008
1Rare Diseases (Rare Disease)
06/2024
1Dyspnea (Shortness of Breath)
12/2023
1Muscular Atrophy (Muscle Atrophy)
11/2023
1Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
11/2023
1Hypoventilation
10/2023
1Inclusion Body Myositis
09/2023
1Death (Near-Death Experience)
06/2023
1Obesity
01/2023

Drug/Important Bio-Agent (IBA)

20Proteins (Proteins, Gene)FDA Link
06/2024 - 01/2008
17AcidsIBA
06/2024 - 10/2008
13human GAA protein (Myozyme)FDA Link
12/2023 - 10/2008
12GlycogenIBA
06/2024 - 09/2008
10alpha-Glucosidases (Acid Maltase)IBA
06/2024 - 10/2008
9Creatine Kinase (Creatine Phosphokinase)IBA
01/2019 - 08/2004
8GlucosidasesIBA
06/2024 - 07/2012
8EnzymesIBA
10/2022 - 10/2008
6RNA (Ribonucleic Acid)IBA
09/2023 - 08/2009
6AntibodiesIBA
01/2022 - 03/2012
6Protein AggregatesIBA
01/2018 - 07/2009
5Biomarkers (Surrogate Marker)IBA
12/2022 - 01/2019
3miglustat (Zavesca)FDA Link
02/2024 - 12/2021
3Carrier Proteins (Binding Protein)IBA
10/2016 - 11/2011
3DesminIBA
12/2012 - 09/2008
2GlucocorticoidsIBA
11/2023 - 01/2023
2DystrophinIBA
06/2023 - 11/2013
2DNA (Deoxyribonucleic Acid)IBA
01/2023 - 01/2015
2CalciumIBA
10/2022 - 07/2015
2IronIBA
10/2022 - 05/2012
2Valosin Containing ProteinIBA
01/2022 - 10/2010
2Insulin-Like Growth Factor I (IGF-1)IBA
09/2021 - 01/2021
2prednylidene (Pred)IBA
08/2021 - 01/2019
2Messenger RNA (mRNA)IBA
01/2020 - 10/2009
2Mitochondrial DNA (mtDNA)IBA
01/2020 - 01/2015
2milk-derived factorIBA
08/2019 - 12/2018
2Protein Kinases (Protein Kinase)IBA
10/2016 - 07/2012
2Phosphorylases (Glucan Phosphorylase)IBA
11/2014 - 12/2010
2AutoantibodiesIBA
06/2014 - 03/2012
2polyglucosanIBA
12/2013 - 09/2008
1Monoclonal AntibodiesIBA
11/2023
1iscalimabIBA
11/2023
111-beta-Hydroxysteroid Dehydrogenase Type 1IBA
11/2023
1Intravenous Immunoglobulins (IVIG)FDA Link
11/2023
1Protein Isoforms (Isoforms)IBA
06/2023
1Azathioprine (Imuran)FDA LinkGeneric
01/2023
1MicroRNAs (MicroRNA)IBA
01/2023
1Immunologic Factors (Immunomodulators)IBA
01/2023
1Immunosuppressive Agents (Immunosuppressants)IBA
01/2023

Therapy/Procedure

24Therapeutics
02/2024 - 10/2008
16Enzyme Replacement Therapy
10/2022 - 10/2008
6Activities of Daily Living (ADL)
01/2023 - 10/2013
2Home Infusion Therapy
12/2021 - 04/2021
2Lasers (Laser)
05/2013 - 12/2012
1Aftercare (After-Treatment)
12/2023
1Complementary Therapies (Alternative Medicine)
10/2023
1Self-Help Devices (Assistive Technology)
06/2023
1Palliative Care (Palliative Therapy)
06/2023