Henry Houlden Selected Research

Glucosylceramidase (Glucocerebrosidase)

2/2013	Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
2/2013	The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
1/2013	Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.
3/2012	Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
7/2009	Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

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Henry Houlden Research Topics

Disease

31	Parkinson Disease (Parkinson's Disease) 12/2023 - 07/2009
23	Neurodegenerative Diseases (Neurodegenerative Disease) 05/2023 - 12/2010
21	Ataxia (Dyssynergia) 10/2023 - 05/2010
20	Parkinsonian Disorders (Parkinsonism) 02/2024 - 01/2009
17	Neurodevelopmental Disorders 01/2024 - 01/2019
16	Atrophy 04/2024 - 01/2009
16	Dystonia (Limb Dystonia) 01/2023 - 01/2009
13	Intellectual Disability (Idiocy) 01/2024 - 11/2014
13	Mitochondrial Diseases (Mitochondrial Disease) 11/2023 - 09/2012
11	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2024 - 12/2007
11	Multiple System Atrophy 12/2022 - 01/2003
10	Brain Diseases (Brain Disorder) 03/2024 - 01/2016
10	Seizures (Absence Seizure) 12/2023 - 11/2014
10	Nervous System Diseases (Neurological Disorders) 01/2023 - 01/2016
10	Hereditary Spastic Paraplegia 09/2022 - 03/2011
9	Epilepsy (Aura) 03/2024 - 10/2012
9	Cognitive Dysfunction 03/2024 - 09/2010
9	Dementia (Dementias) 06/2023 - 08/2011
8	Movement Disorders (Movement Disorder) 03/2024 - 07/2010
8	Muscular Diseases (Myopathy) 01/2024 - 01/2018
7	Cerebellar Ataxia (Dysmetria) 10/2023 - 05/2010
7	Alzheimer Disease (Alzheimer's Disease) 05/2023 - 06/2003
7	Leukoencephalopathies 12/2022 - 12/2016
6	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2024 - 11/2004
6	Synucleinopathies 01/2023 - 02/2015
6	Frontotemporal Dementia (Semantic Dementia) 08/2020 - 09/2012
6	Peripheral Nervous System Diseases (PNS Diseases) 01/2020 - 04/2014
5	Multiple Sclerosis 03/2023 - 01/2016
5	Cerebral Small Vessel Diseases 12/2022 - 11/2014
5	Atrial Fibrillation 03/2021 - 10/2015
5	Ischemic Stroke 03/2021 - 10/2015
5	Inborn Genetic Diseases (Disease, Hereditary) 03/2020 - 09/2018
5	Hereditary Sensory and Autonomic Neuropathies (HSAN) 12/2017 - 08/2003
5	Brown-Vialetto-Van Laere syndrome 11/2017 - 09/2012
4	Tremor (Tremors) 12/2023 - 07/2010
4	Muscle Hypotonia (Hypotonia) 11/2023 - 01/2019
4	Inflammation (Inflammations) 01/2023 - 01/2019
4	Pain (Aches) 01/2023 - 01/2017
4	Cerebral Amyloid Angiopathy (Congophilic Angiopathy) 01/2023 - 01/2019
4	Cerebral Hemorrhage 01/2023 - 10/2015
4	Stroke (Strokes) 12/2022 - 10/2015
4	Disease Progression 05/2022 - 03/2012
3	Cataract (Cataracts) 01/2024 - 05/2017
3	Rare Diseases (Rare Disease) 12/2023 - 09/2014
3	Muscular Dystrophies (Muscular Dystrophy) 10/2023 - 01/2019
3	Tauopathies 05/2023 - 09/2012
3	Rupture 08/2022 - 01/2018
3	Microcephaly 01/2022 - 12/2019
3	Huntington Disease (Huntington's Disease) 08/2021 - 06/2016
3	Intracranial Aneurysm (Cerebral Aneurysm) 01/2021 - 06/2018
3	Polyneuropathies (Polyneuropathy) 01/2021 - 01/2019
3	Optic Atrophy 01/2020 - 11/2017
3	Neoplasms (Cancer) 01/2019 - 04/2017
3	Muscle Weakness 01/2018 - 04/2014
3	Neurodegeneration with brain iron accumulation (NBIA) 03/2016 - 04/2012
3	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 02/2015 - 12/2003
3	Gaucher Disease (Gaucher's Disease) 02/2013 - 07/2009
2	Deglutition Disorders (Dysphagia) 02/2024 - 06/2019
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2023 - 03/2021

Drug/Important Bio-Agent (IBA)

58	Proteins (Proteins, Gene)FDA Link 05/2024 - 05/2010
17	SynucleinsIBA 01/2023 - 08/2011
14	IronIBA 12/2022 - 01/2009
11	Levodopa (L Dopa)FDA LinkGeneric 01/2023 - 01/2009
10	Biomarkers (Surrogate Marker)IBA 01/2023 - 01/2018
9	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 07/2014
9	alpha-SynucleinIBA 01/2018 - 01/2003
7	Leucine (L-Leucine)FDA Link 01/2022 - 09/2012
7	Phosphotransferases (Kinase)IBA 01/2021 - 12/2007
6	Amyloid (Amyloid Fibrils)IBA 05/2023 - 06/2003
6	Riboflavin (Vitamin B2)FDA LinkGeneric 03/2018 - 09/2012
5	CalciumIBA 03/2024 - 07/2014
5	RNA (Ribonucleic Acid)IBA 01/2024 - 04/2014
5	ChromatinIBA 11/2023 - 09/2018
5	EnzymesIBA 01/2023 - 02/2013
5	Apolipoproteins E (ApoE)IBA 11/2022 - 04/2015
5	AnticoagulantsIBA 03/2021 - 10/2015
5	Mitochondrial DNA (mtDNA)IBA 06/2017 - 09/2012
5	Glucosylceramidase (Glucocerebrosidase)IBA 02/2013 - 07/2009
4	Adenosine Triphosphate (ATP)IBA 01/2024 - 04/2013
4	fibroblast growth factor 14IBA 01/2024 - 06/2023
4	Transcription Factors (Transcription Factor)IBA 11/2022 - 12/2011
4	polyglutamineIBA 01/2022 - 01/2016
3	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 03/2024 - 01/2021
3	Codon (Codons)IBA 06/2023 - 01/2017
3	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 03/2023 - 09/2012
3	HLA-DRB1 Chains (HLA DRB1)IBA 03/2023 - 01/2018
3	Analgesics (Analgesic Drugs)IBA 01/2023 - 01/2018
3	ADP-ribosylarginine hydrolaseIBA 12/2021 - 01/2018
3	Carrier Proteins (Binding Protein)IBA 12/2021 - 12/2003
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2021 - 01/2018
3	AMPA Receptors (AMPA Receptor)IBA 12/2019 - 01/2016
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2023 - 01/2018
2	SodiumIBA 12/2023 - 01/2020
2	Ketoglutarate Dehydrogenase Complex (Oxoglutarate Dehydrogenase)IBA 11/2023 - 01/2023
2	Lactic Acid (Lactate)FDA LinkGeneric 11/2023 - 01/2019
2	Glucose (Dextrose)FDA LinkGeneric 10/2023 - 02/2005
2	Peptides (Polypeptides)IBA 06/2023 - 04/2013
2	anandamide (arachidonylethanolamide)IBA 01/2023 - 08/2019

Therapy/Procedure

10	Therapeutics 01/2023 - 10/2015
2	Deep Brain Stimulation 01/2023 - 07/2010