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Rafal Ploski Selected Research

Protein Aggregates

7/2021Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

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Rafal Ploski Research Topics

Disease

4Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2017 - 05/2010
3Graves Disease (Basedow Disease)
01/2014 - 06/2005
2Necrosis
07/2021 - 07/2007
2Polyneuropathies (Polyneuropathy)
07/2021 - 04/2020
2Neurodevelopmental Disorders
01/2021 - 11/2020
2Keratoconus
01/2021 - 01/2017
2Epilepsy (Aura)
01/2021 - 01/2014
2Intellectual Disability (Idiocy)
10/2020 - 02/2015
2Movement Disorders (Movement Disorder)
04/2020 - 02/2015
2Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
11/2018 - 01/2018
2Leukemia
01/2018 - 02/2015
2Obesity
01/2018 - 04/2011
1Seizures (Absence Seizure)
12/2023
1Type 1 Diabetes Mellitus (Autoimmune Diabetes)
11/2023
1Hypersensitivity (Allergy)
01/2023
1Bacteriuria
01/2023
1Leukocytosis (Pleocytosis)
03/2022
1Type 1C Charcot-Marie-Tooth disease
07/2021
1Myofibrillar Myopathy
07/2021
1Muscular Diseases (Myopathy)
07/2021
1Dystonia (Limb Dystonia)
11/2020
1Cholestasis
10/2020
1Chronic Kidney Failure (Chronic Renal Failure)
10/2020
1Tetralogy of Fallot (Fallot Tetralogy)
10/2020
1Alagille Syndrome (Alagille-Watson Syndrome)
10/2020
1Gastroparesis
10/2020
1Febrile Seizures (Febrile Seizure)
10/2020
1Hypoplastic Left Heart Syndrome
10/2020
1Familial duodenal atresia
10/2020
1Primary Ovarian Insufficiency
04/2020
1Cerebellar Ataxia (Dysmetria)
04/2020
1Chorea (Rheumatic Chorea)
04/2020
1Optic Atrophy
04/2020
1Carcinogenesis
01/2020
1Coronary Disease (Coronary Heart Disease)
01/2019
1Muscle Hypotonia (Hypotonia)
11/2018
1Atherosclerosis
01/2018
1Mitochondrial Diseases (Mitochondrial Disease)
01/2018
1Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)
01/2018
1Hematologic Neoplasms (Hematological Malignancy)
01/2018
1Disease Progression
01/2018
1Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
11/2017
1Ichthyosis (Xeroderma)
11/2017
1Hearing Loss (Hearing Impairment)
03/2017
1Restrictive Cardiomyopathy
12/2016
1Leigh Disease (Leigh's Disease)
07/2016
1Hemophilia A (Haemophilia)
01/2016
1Tyrosinemias (Tyrosinemia)
12/2015
1Brain Diseases (Brain Disorder)
02/2015
1Atrophy
02/2015

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
03/2022 - 12/2005
3CollagenIBA
01/2021 - 07/2008
216S Ribosomal RNAIBA
11/2023 - 01/2023
2Lactic Acid (Lactate)FDA LinkGeneric
03/2022 - 07/2016
2EnzymesIBA
11/2020 - 10/2012
2Mitochondrial DNA (mtDNA)IBA
04/2020 - 01/2018
2Connexin 26IBA
03/2017 - 12/2005
2Tyrosine (L-Tyrosine)FDA Link
12/2015 - 06/2005
2AntigensIBA
01/2014 - 07/2007
2Thyrotropin Receptors (Thyrotropin Receptor)IBA
01/2014 - 07/2007
2Lamin Type A (Lamin A)IBA
04/2012 - 05/2010
1Amitriptyline (Elavil)FDA LinkGeneric
12/2023
1CarbohydratesIBA
11/2023
1Insulin (Novolin)FDA Link
11/2023
1Immunoglobulin E (IgE)IBA
01/2023
1LipopolysaccharidesIBA
07/2021
1AntibodiesIBA
07/2021
1Protein AggregatesIBA
07/2021
1Adaptor Protein Complex 1IBA
01/2021
1purineIBA
11/2020
1Alkaline PhosphataseIBA
10/2020
1Immunoglobulin A (IgA)IBA
10/2020
1Reactive Oxygen Species (Oxygen Radicals)IBA
01/2020
1rho GTP-Binding Proteins (rho GTP-Binding Protein)IBA
01/2020
1Biomarkers (Surrogate Marker)IBA
01/2019
1Biotin (Vitamin H)FDA Link
11/2018
12,6-bis-trifluoromethylbenzoic acid 2- (1- (ethoxycarbonylmethylcarbamoyl)- 3- methylbutylcarbamoyl)allyl esterIBA
11/2018
1Protein Disulfide-IsomerasesIBA
11/2018
1ThioredoxinsIBA
11/2018
1Protein Isoforms (Isoforms)IBA
11/2018
1CCAAT-Enhancer-Binding ProteinsIBA
11/2018
1Small Interfering RNA (siRNA)IBA
11/2018
1Therapeutic UsesIBA
11/2018
1fms-Like Tyrosine Kinase 3IBA
01/2018
1talazoparibIBA
01/2018
1Tyrosine Kinase InhibitorsIBA
01/2018
1olaparibIBA
01/2018
1PerforinIBA
01/2018
1Keratin-10IBA
11/2017
1RNA (Ribonucleic Acid)IBA
01/2017
1ConnectinIBA
01/2017
1Troponin CIBA
12/2016
1salicylhydroxamic acid (SHAM)IBA
01/2016
1DioxygenasesIBA
12/2015

Therapy/Procedure

2Percutaneous Coronary Intervention
07/2008 - 08/2006
1Antibiotic Prophylaxis
11/2023
1Kidney Transplantation
01/2023
1Immunotherapy
07/2021
1Renal Replacement Therapy (Therapies, Renal Replacement)
10/2020
1Peritoneal Dialysis
10/2020