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Judith Fischer Selected Research

Muscular Diseases (Myopathy)

8/2013Symptomatic lipid storage in carriers for the PNPLA2 gene.
6/2008The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding.
6/2007[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].
1/2007The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

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Judith Fischer Research Topics

Disease

22Ichthyosis (Xeroderma)
05/2024 - 03/2006
4Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
05/2024 - 01/2002
4Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
01/2022 - 03/2003
4Chanarin-Dorfman Syndrome
03/2019 - 05/2004
4Psoriasis (Pustulosis Palmaris et Plantaris)
06/2015 - 02/2009
4Muscular Diseases (Myopathy)
08/2013 - 01/2007
2Lamellar Ichthyosis (Harlequin Ichthyosis)
04/2023 - 09/2021
2Ichthyosis Vulgaris (Dominant Ichthyosis Vulgaris)
09/2021 - 02/2014
2Cardiomyopathies (Cardiomyopathy)
01/2021 - 12/2018
2Epilepsy (Aura)
01/2021 - 11/2004
2Heart Failure
12/2018 - 05/2008
2Poikiloderma of Kindler
11/2011 - 04/2003
1Epidermal Nevus
05/2024
1Focal Dermal Hypoplasia (Syndrome, Goltz)
02/2024
1Junctional Epidermolysis Bullosa (Epidermolysis Bullosa Letalis)
11/2023
1Skin Manifestations
10/2023
1Inflammation (Inflammations)
10/2023
1Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa)
01/2022
1Epidermolysis Bullosa Acquisita (Acquired Epidermolysis Bullosa)
01/2022
1Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
01/2022
1Connective Tissue Diseases (Connective Tissue Disease)
11/2021
1Marfan Syndrome (Marfan's Syndrome)
11/2021
1Netherton Syndrome
09/2021
1X-Linked Ichthyosis (Ichthyosis, X Linked)
09/2021
1Congenital Ichthyosiform Erythroderma
09/2021
1Vitamin D Deficiency
09/2021
1Porokeratosis (Palmoplantar Porokeratosis)
02/2021
1Ectodermal Dysplasia (Aplasia Cutis Congenita)
01/2021
1Hypoglycemia (Reactive Hypoglycemia)
01/2021
1Microcephaly
01/2021
1Telangiectasis (Telangiectasia)
01/2021
1Vision Disorders (Hemeralopia)
01/2021
1Brachydactyly
01/2021
1Arthrogryposis
09/2020
1Respiratory Insufficiency (Respiratory Failure)
09/2020
1Cysts
10/2019
1Autosomal Recessive Epidermolysis Bullosa Simplex
10/2019
1Arthrogryposis renal dysfunction cholestasis syndrome
12/2018
1Cardiac Sudden Death (Sudden Cardiac Arrest)
12/2018
1Exocrine Pancreatic Insufficiency
12/2018
1Cardiac Arrhythmias (Arrythmia)
12/2018
1Erythema
01/2018
1Parkinsonian Disorders (Parkinsonism)
01/2017
1Dystonia (Limb Dystonia)
01/2017
1Exfoliative Dermatitis (Erythroderma)
05/2016
1Dehydration (Water Stress)
03/2014
1Heart Diseases (Heart Disease)
08/2013

Drug/Important Bio-Agent (IBA)

8Proteins (Proteins, Gene)FDA Link
10/2019 - 04/2003
5LipidsIBA
08/2013 - 06/2005
4DNA (Deoxyribonucleic Acid)IBA
02/2024 - 02/2018
4Collodion (Nitrocellulose)IBA
01/2021 - 10/2004
3Keratins (Keratin)IBA
05/2024 - 10/2010
3EnzymesIBA
11/2012 - 03/2006
2Nonsense Codon (Nonsense Mutation)IBA
09/2020 - 12/2018
2HydrolasesIBA
03/2014 - 06/2007
2Triglycerides (Triacylglycerol)IBA
08/2013 - 05/2004
2NF-kappa B (NF-kB)IBA
11/2009 - 02/2009
2AcidsIBA
05/2008 - 11/2004
2Lipase (Acid Lipase)FDA Link
06/2007 - 01/2007
1Immunoglobulin A (IgA)IBA
05/2024
1IntegrinsIBA
11/2023
1Cysteine (L-Cysteine)FDA Link
11/2023
1Interleukin-5 (Interleukin 5)IBA
10/2023
1RNA (Ribonucleic Acid)IBA
10/2023
1CytokinesIBA
10/2023
1Interleukin-17 (Interleukin 17)IBA
10/2023
1Keratin-2 (Keratin 2)IBA
04/2023
1CollagenIBA
01/2022
1CeramidesIBA
01/2022
1Dynamins (Dynamin)IBA
01/2022
1GTP Phosphohydrolases (GTPases)IBA
01/2022
1Fibrillin-1IBA
11/2021
1hydroxide ionIBA
09/2021
1Vitamin DFDA LinkGeneric
09/2021
1Parathyroid Hormone (Parathormone)IBA
09/2021
1Calcifediol (Calcidiol)FDA Link
09/2021
1Mevalonic Acid (Mevalonate)IBA
02/2021
1dolichol kinaseIBA
01/2021
1Protein Kinases (Protein Kinase)IBA
01/2021
1Phospholipase C deltaIBA
10/2019
1delta proteinIBA
10/2019
1Keratin-5 (Keratin 5)IBA
10/2019
1Phosphoric Diester Hydrolases (Phosphodiesterases)IBA
10/2019
1tazarotene (Tazorac)FDA Link
03/2019
1CopperIBA
12/2018
1AlitretinoinFDA Link
01/2018
1RetinoidsIBA
01/2018
1AcitretinFDA Link
01/2018
1synaptojaninIBA
01/2017
1Levodopa (L Dopa)FDA LinkGeneric
01/2017
1Arginine (L-Arginine)FDA Link
05/2016
1Interleukin-13IBA
06/2015
1Keratin-10IBA
01/2015
1Immunoglobulin E (IgE)IBA
01/2015
1Acyl Coenzyme A (Acyl CoA)IBA
03/2014
1Diacylglycerol O-AcyltransferaseIBA
03/2014
1Filaggrin ProteinsIBA
02/2014

Therapy/Procedure

1Implantable Defibrillators (Implantable Cardioverter-Defibrillator)
12/2018
1Heart Transplantation (Grafting, Heart)
12/2018
1Therapeutics
02/2018