Michèl A A P Willemsen Selected Research

Sjogren-Larsson Syndrome

11/2020	Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
1/2019	Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.
1/2019	Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.
11/2016	Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.
2/2016	Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial.
3/2014	Multimodal imaging of the macula in hereditary and acquired lack of macular pigment.
5/2010	Patients with Sjögren-Larsson syndrome lack macular pigment.
4/2004	MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

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Michèl A A P Willemsen Research Topics

Disease

8	Sjogren-Larsson Syndrome 11/2020 - 04/2004
5	Ataxia Telangiectasia (Louis Bar Syndrome) 12/2021 - 01/2009
4	Dystonia (Limb Dystonia) 01/2020 - 01/2012
3	Intellectual Disability (Idiocy) 05/2022 - 01/2012
3	Macular Degeneration (Age-Related Maculopathy) 01/2019 - 05/2010
2	Movement Disorders (Movement Disorder) 05/2022 - 05/2017
2	Ataxia (Dyssynergia) 12/2021 - 05/2007
2	Brain Diseases (Brain Disorder) 01/2020 - 11/2003
2	Dopa-responsive Dystonia 05/2017 - 10/2007
2	Microcephaly 01/2015 - 05/2007
2	Telangiectasis (Telangiectasia) 06/2012 - 03/2012
2	Pyridoxine-dependent epilepsy 03/2006 - 10/2005
2	Leukoencephalopathies 04/2004 - 11/2003
1	Hypokinesia (Bradykinesia) 01/2020
1	Retinal Degeneration 01/2019
1	Hemiplegia (Spastic Hemiplegia) 11/2018
1	Agammaglobulinemia (Hypogammaglobulinemia) 01/2017
1	Fibrosis (Cirrhosis) 11/2016
1	Pruritus (Itching) 02/2016
1	Hypersensitivity (Allergy) 03/2012
1	Muscle Hypotonia (Hypotonia) 01/2012
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 12/2009
1	Ganglion Cysts (Ganglion) 05/2008
1	Cystinosis 02/2008
1	Gynecomastia 02/2008
1	Prolactinoma (Prolactinomas) 02/2008
1	Glut1 Deficiency Syndrome 05/2007
1	Seizures (Absence Seizure) 05/2007
1	Demyelinating Diseases (Demyelinating Disease) 11/2006
1	Cataract (Cataracts) 10/2005
1	Gliosis 04/2004
1	type 2C Limb-girdle muscular dystrophy 04/2004
1	Neurocutaneous Syndromes (Phakomatoses) 04/2004
1	Hypoglycemia (Reactive Hypoglycemia) 09/2003
1	Type 2 Diabetes Mellitus (MODY) 09/2003

Drug/Important Bio-Agent (IBA)

4	Macular PigmentIBA 01/2019 - 05/2010
3	Levodopa (L Dopa)FDA LinkGeneric 01/2020 - 05/2017
2	Immunoglobulins (Immunoglobulin)IBA 12/2021 - 03/2012
2	Phosphotransferases (Kinase)IBA 01/2019 - 03/2012
2	Retinaldehyde (Retinal)IBA 01/2019 - 05/2008
2	EnzymesIBA 01/2019 - 04/2004
2	Dopamine (Intropin)FDA LinkGeneric 05/2017 - 01/2012
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 05/2022
1	nicotinamide-beta-ribosideIBA 12/2021
1	long-chain-aldehyde dehydrogenaseIBA 11/2020
1	Ether (Diethyl Ether)IBA 11/2020
1	Carbidopa (Lodosyn)FDA LinkGeneric 01/2020
1	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020
1	bis(cyclohexylammonium)sulfateIBA 11/2018
1	Therapeutic UsesIBA 05/2017
1	Immunoglobulin M (IgM)IBA 01/2017
1	Immunoglobulin G (IgG)IBA 01/2017
1	zileuton (Zyflo)FDA Link 02/2016
1	Cullin Proteins (Cullins)IBA 01/2015
1	Proteins (Proteins, Gene)FDA Link 01/2015
1	Pemetrexed (MTA)FDA Link 03/2014
1	Fetal Proteins (Fetoprotein)IBA 06/2012
1	Ataxia Telangiectasia Mutated ProteinsIBA 03/2012
1	Serotonin (5 Hydroxytryptamine)IBA 01/2012
1	Amino Acids FDA Link 12/2009
1	NeuropeptidesIBA 12/2009
1	Cysteamine (Mercaptamine)FDA Link 02/2008
1	Cabergoline FDA LinkGeneric 02/2008
1	ProlactinIBA 02/2008
1	Somatostatin (Somatotropin Release-Inhibiting Factor)IBA 02/2008
1	Growth Hormone (Somatotropin)IBA 02/2008
1	Dopamine Agonists (Dopamine Agonist)IBA 02/2008
1	Homovanillic AcidIBA 10/2007
1	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 10/2007
1	Glucose (Dextrose)FDA LinkGeneric 05/2007
1	Blood Glucose (Blood Sugar)IBA 05/2007
1	Inositol (Myoinositol)IBA 11/2006
1	Choline (Choline Chloride)IBA 11/2006
1	Oxidoreductases (Dehydrogenase)IBA 03/2006
1	allysineIBA 03/2006
1	RNA (Ribonucleic Acid)IBA 10/2005
1	pipecolic acidIBA 10/2005
1	Sarcoglycans (beta Sarcoglycan)IBA 04/2004
1	Protons (Proton)IBA 04/2004
1	LipidsIBA 04/2004
1	Peptide Initiation Factors (Initiation Factor)IBA 11/2003
1	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 11/2003
1	Insulin (Novolin)FDA Link 09/2003
1	GlucokinaseIBA 09/2003
1	Pharmaceutical PreparationsIBA 09/2003

Therapy/Procedure

1	Artificial Respiration (Mechanical Ventilation) 01/2009
1	Therapeutics 05/2007
1	Ketogenic Diet 05/2007