H A Jinnah Selected Research

purine

1/2021	Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.
1/2020	Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.
1/2016	Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
4/2015	Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.
1/2015	Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.
1/2015	Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
8/2014	Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.
7/2014	Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.
1/2014	Transcriptomic approach to Lesch-Nyhan disease.
12/2013	Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling.

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H A Jinnah Research Topics

Disease

32	Dystonia (Limb Dystonia) 01/2022 - 05/2000
31	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 01/2021 - 04/2000
7	Hyperuricemia 01/2020 - 10/2000
6	Torticollis (Wryneck) 01/2021 - 12/2013
5	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2019 - 06/2001
4	Dystonia musculorum deformans type 1 01/2022 - 10/2012
4	Nephrolithiasis 08/2014 - 03/2009
4	Neuroblastoma 07/2014 - 05/2007
3	Dystonic Disorders (Writer's Cramp) 01/2021 - 06/2013
3	Nervous System Diseases (Neurological Disorders) 02/2019 - 10/2002
3	Pain (Aches) 01/2019 - 10/2002
3	Parkinsonian Disorders (Parkinsonism) 12/2017 - 07/2010
3	Neurodevelopmental Disorders 01/2016 - 05/2007
3	Cognitive Dysfunction 01/2016 - 01/2007
3	Gouty Arthritis 08/2014 - 03/2009
3	Channelopathies 02/2013 - 09/2002
3	Chorea (Rheumatic Chorea) 01/2008 - 09/2002
2	Tremor (Tremors) 06/2020 - 02/2008
2	Neurologic Manifestations (Neurological Manifestations) 01/2020 - 07/2009
2	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease) 12/2019 - 02/2019
2	Stroke (Strokes) 02/2019 - 10/2007
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2019 - 03/2008
2	Blepharospasm 02/2017 - 03/2001
2	Parkinson Disease (Parkinson's Disease) 04/2016 - 07/2009
2	Atrophy 10/2012 - 06/2001
2	Gout 04/2012 - 07/2009
2	Inborn Genetic Diseases (Disease, Hereditary) 08/2009 - 11/2001
2	Brain Ischemia (Cerebral Ischemia) 12/2008 - 10/2007
2	Phenylketonurias (Phenylketonuria) 01/2004 - 12/2001
2	Dyskinesias (Dyskinesia) 10/2002 - 09/2002
1	Cerebellar Diseases (Cerebellar Syndrome) 12/2021
1	Dopa-responsive Dystonia 01/2021
1	Spasm (Spasms) 11/2020
1	Aphasia (Dysphasia) 02/2019
1	Heart Failure 01/2019
1	Deglutition Disorders (Dysphagia) 01/2018
1	Dysphonia (Spastic Dysphonia) 02/2017
1	Task-Specific Focal Dystonia 01/2017
1	Tardive Dyskinesia 02/2015
1	Myoclonus (Nocturnal Myoclonus) 12/2014
1	Myoclonic dystonia 12/2014
1	Renal Insufficiency (Renal Failure) 08/2014
1	Metabolic Diseases (Metabolic Disease) 01/2014
1	Pheochromocytoma 12/2013
1	Hepatic Veno-Occlusive Disease (Disease, Hepatic Veno-Occlusive) 04/2013

Drug/Important Bio-Agent (IBA)

28	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 01/2021 - 04/2000
20	EnzymesIBA 01/2021 - 04/2000
19	purineIBA 01/2021 - 04/2000
12	Uric Acid (Urate)IBA 01/2020 - 05/2006
10	Dopamine (Intropin)FDA LinkGeneric 01/2022 - 02/2002
5	HypoxanthineIBA 01/2016 - 02/2002
5	GuanineIBA 01/2016 - 02/2002
4	Biological ProductsIBA 01/2021 - 01/2017
4	Proteins (Proteins, Gene)FDA Link 01/2021 - 06/2001
4	Calcium Channels (Calcium Channel)IBA 01/2019 - 10/2002
4	Botulinum Toxins (Botulinum Toxin)IBA 01/2019 - 06/2016
4	TransferasesIBA 07/2009 - 02/2002
3	Pharmaceutical PreparationsIBA 01/2019 - 07/2005
3	CalciumIBA 01/2019 - 09/2002
3	Ion Channels (Ion Channel)IBA 02/2013 - 10/2002
3	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 01/2006 - 05/2000
2	Cholinergic Agents (Cholinergics)IBA 01/2022 - 01/2019
2	Trihexyphenidyl (Artane)FDA LinkGeneric 01/2022 - 01/2019
2	Muscarinic Receptors (Muscarinic Acetylcholine Receptor)IBA 01/2022 - 01/2019
2	IronIBA 12/2019 - 12/2015
2	Dopamine Agonists (Dopamine Agonist)IBA 01/2018 - 12/2017
2	ecopipamIBA 04/2016 - 01/2016
2	Dopamine D1 Receptors (Dopamine D1 Receptor)IBA 04/2016 - 01/2016
2	Nerve Growth Factor (NGF)IBA 04/2015 - 12/2013
2	Codon (Codons)IBA 06/2013 - 10/2012
2	Ethanol (Ethyl Alcohol)IBA 02/2013 - 10/2002
2	Caffeine (No Doz)FDA LinkGeneric 02/2013 - 10/2002
2	Kainic Acid (Kainate)IBA 09/2008 - 09/2002
2	AntioxidantsIBA 10/2007 - 01/2007
2	Methyl ester 1,4- dihydro- 2,6- dimethyl- 5- nitro- 4- (2- (trifluoromethyl)phenyl)- 3-Pyridinecarboxylic acidIBA 11/2003 - 05/2000
2	FPL 64176IBA 11/2003 - 05/2000
1	Muscarinic M4 ReceptorIBA 01/2022
1	2- methyl- 4- carboxy- 5- hydroxy- 3,4,5,6- tetrahydropyrimidineIBA 01/2022
1	Carisoprodol (Soma)FDA LinkGeneric 12/2021
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2021
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020
1	AICA ribonucleotide (ZMP)IBA 01/2020
1	Heavy MetalsIBA 01/2019
1	Dihydroxyphenylalanine (Dopa)IBA 01/2019
1	Cholinesterase Inhibitors (Anticholinesterases)IBA 01/2019
1	AMP Deaminase (Myoadenylate Deaminase)IBA 01/2019
1	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 01/2019
1	Opiate AlkaloidsIBA 04/2018
1	Dopamine Receptors (Dopamine Receptor)IBA 01/2018
1	abobotulinumtoxinA FDA Link 01/2018
1	Dopamine Agents (Dopaminergic Agents)IBA 01/2018
1	Levodopa (L Dopa)FDA LinkGeneric 12/2017
1	ProteomeIBA 04/2015
1	Tetrabenazine (Nitoman)FDA Link 12/2014

Therapy/Procedure

12	Therapeutics 01/2022 - 07/2005
5	Deep Brain Stimulation 06/2020 - 11/2014
3	Activities of Daily Living (ADL) 02/2019 - 12/2014
1	Electrodes (Electrode) 11/2020
1	Operative Surgical Procedures 01/2019
1	Injections 02/2017