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C Kornblum Selected Research

Kearns-Sayre Syndrome

6/2008[Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy].
9/2005Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome.
4/2005Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study.
5/2001Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions.

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C Kornblum Research Topics

Disease

6Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
05/2010 - 05/2001
4Kearns-Sayre Syndrome
06/2008 - 05/2001
3Muscular Diseases (Myopathy)
07/2011 - 07/2002
3Mitochondrial Diseases (Mitochondrial Disease)
02/2010 - 05/2000
2Pain (Aches)
10/2020 - 06/2010
2Glycogen Storage Disease Type II (Pompe's Disease)
12/2013 - 01/2010
1Dermatomyositis (Dermatopolymyositis)
10/2020
1Hemophilia A (Haemophilia)
10/2020
1Rare Diseases (Rare Disease)
10/2020
1Fibrosis (Cirrhosis)
01/2020
1Brain Diseases (Brain Disorder)
11/2011
1Limbic Encephalitis (Paraneoplastic Limbic Encephalitis)
11/2011
1Hodgkin Disease (Hodgkin's Disease)
11/2011
1Cerebellar Ataxia (Dysmetria)
11/2011
1Nausea
06/2010
1Dyspnea (Shortness of Breath)
06/2010
1Muscle Weakness
06/2010
1Epilepsy (Aura)
02/2010
1Myotonic Dystrophy (Dystrophia Myotonica)
02/2010
1Myotonia Congenita (Thomsen Disease)
02/2010
1Arthrogryposis
11/2009
1Miyoshi myopathy
08/2009
1type 2B Limb-girdle muscular dystrophy
08/2009
1Myasthenia Gravis
08/2007
1Chromosome 18 deletion syndrome
08/2006
1Hearing Loss (Hearing Impairment)
09/2005
1Mitochondrial complex I deficiency
01/2005
1Mitochondrial cytopathy
12/2004
1Diplopia (Double Vision)
12/2004
1Deglutition Disorders (Dysphagia)
05/2001
1Esophageal Achalasia (Megaesophagus)
05/2001

Drug/Important Bio-Agent (IBA)

5Mitochondrial DNA (mtDNA)IBA
05/2010 - 05/2000
2AcidsIBA
12/2013 - 01/2010
2AntibodiesIBA
11/2011 - 11/2009
2DNA (Deoxyribonucleic Acid)IBA
04/2005 - 12/2004
2CreatineIBA
04/2005 - 07/2002
1GlycogenIBA
01/2020
1GlucosidasesIBA
12/2013
1Metabotropic Glutamate 5 ReceptorIBA
11/2011
1AutoantigensIBA
11/2011
1metabotropic glutamate receptor type 1IBA
11/2011
1Complement System Proteins (Complement)IBA
07/2011
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
05/2010
1Lactic Acid (Lactate)FDA LinkGeneric
02/2010
1Phe Transfer RNAIBA
02/2010
1Chloride Channels (Chloride Channel)IBA
02/2010
1alpha-Glucosidases (Acid Maltase)IBA
01/2010
1human GAA protein (Myozyme)FDA Link
01/2010
1DysferlinIBA
08/2009
1Somatostatin Receptors (Somatostatin Receptor)IBA
08/2007
1A 17 (A-17)IBA
08/2006
1Leu Transfer RNAIBA
09/2005
1Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA
01/2005
1Biological ProductsIBA
12/2004
1Adenosine Triphosphate (ATP)IBA
07/2002
1Phosphocreatine (Neoton)IBA
07/2002

Therapy/Procedure

3Therapeutics
10/2020 - 06/2008
1Pain Management
10/2020
1Anesthesia
06/2010
1Enzyme Replacement Therapy
01/2010
1Telescopes
12/2004