Bwee Tien Poll-The Selected Research

Pontocerebellar Hypoplasia

1/2017	A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
7/2011	Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
1/2011	Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
9/2008	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Bwee Tien Poll-The Research Topics

Disease

8	Zellweger Syndrome (Zellweger's Syndrome) 01/2019 - 02/2012
6	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 08/2016 - 01/2010
4	Pontocerebellar Hypoplasia 01/2017 - 09/2008
4	Seizures (Absence Seizure) 01/2016 - 12/2010
3	Rhizomelic Chondrodysplasia Punctata 01/2021 - 02/2012
3	Spinal Cord Diseases 03/2020 - 01/2006
3	Atrophy 01/2018 - 11/2008
2	Liver Diseases (Liver Disease) 10/2019 - 11/2016
2	Body Weight (Weight, Body) 01/2019 - 11/2008
2	Pontocerebellar Hypoplasia Type 6 01/2017 - 01/2011
2	Peroxisomal Disorders (Peroxisomal Disorder) 08/2016 - 02/2012
2	Pyridoxine-dependent epilepsy 01/2016 - 12/2010
2	Brain Diseases (Brain Disorder) 03/2014 - 04/2004
2	Muscle Hypotonia (Hypotonia) 04/2012 - 09/2006
2	Barth Syndrome 10/2009 - 04/2009
1	Ganglion Cysts (Ganglion) 03/2020
1	Fibrosis (Cirrhosis) 01/2019
1	Liver Cirrhosis (Hepatic Cirrhosis) 01/2019
1	Arthrogryposis 12/2018
1	Microcephaly 12/2018
1	autosomal recessive 1 Spinocerebellar ataxia 01/2018
1	Apraxias (Dyspraxia) 01/2018
1	Cerebellar Ataxia (Dysmetria) 01/2018
1	Hypoalbuminemia 01/2018
1	3-Methylglutaconic Aciduria 01/2018
1	Vitamin K Deficiency 01/2018
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 01/2018
1	Wounds and Injuries (Trauma) 01/2017
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2017
1	Enterocolitis 01/2016
1	Lactic Acidosis 01/2016
1	Hemorrhage 01/2016
1	Sepsis (Septicemia) 01/2016
1	Neonatal Abstinence Syndrome 01/2016
1	Asphyxia (Suffocation) 01/2016
1	Hypoglycemia (Reactive Hypoglycemia) 01/2016
1	Congenital Abnormalities (Deformity) 03/2014
1	Hypophosphatasia 03/2014
1	Epilepsy (Aura) 03/2014
1	Infantile Hypophosphatasia 03/2014
1	Inflammation (Inflammations) 11/2013
1	Rett Syndrome (Rett's Disorder) 11/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2013
1	Hyperlysinemias (Hyperlysinemia) 04/2013
1	Obstructive Sleep Apnea 07/2012
1	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 04/2012
1	Motor Disorders 04/2012
1	Leukoencephalopathies 02/2012
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 08/2011
1	Vaccinia 07/2011

Drug/Important Bio-Agent (IBA)

7	EnzymesIBA 01/2021 - 04/2004
5	Fatty Acids (Saturated Fatty Acids)IBA 11/2012 - 04/2004
4	Proteins (Proteins, Gene)FDA Link 01/2021 - 09/2007
3	Bile Acids and Salts (Bile Acids)IBA 10/2019 - 11/2016
3	Cholic AcidIBA 01/2019 - 11/2016
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2016 - 12/2010
3	splicing endonucleaseIBA 07/2011 - 09/2008
2	PlasmalogensIBA 01/2021 - 10/2013
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2018 - 01/2011
2	Biomarkers (Surrogate Marker)IBA 01/2018 - 01/2003
2	Valproic Acid (Depakote)FDA LinkGeneric 01/2018 - 08/2011
2	Arginine-tRNA LigaseIBA 01/2017 - 07/2011
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2016 - 09/2006
2	Lysine (L-Lysine)FDA Link 01/2016 - 04/2013
2	Leucovorin (Folinic Acid)FDA Link 01/2016 - 11/2013
2	BezafibrateIBA 11/2012 - 01/2012
2	Levodopa (L Dopa)FDA LinkGeneric 04/2012 - 09/2006
2	Cardiolipins (Cardiolipin)IBA 10/2009 - 04/2009
2	Isoleucine (L-Isoleucine)FDA Link 09/2006 - 04/2004
1	Retinaldehyde (Retinal)IBA 03/2020
1	VitaminsIBA 01/2019
1	Coenzyme A (CoA)IBA 12/2018
1	Selenoproteins (Selenoprotein)IBA 01/2018
1	Fetal Proteins (Fetoprotein)IBA 01/2018
1	FlunarizineIBA 01/2018
1	acarboxyprothrombin (PIVKA)IBA 01/2018
1	Vitamin K FDA Link 01/2018
1	Thrombin FDA Link 01/2018
1	Serum AlbuminIBA 01/2018
1	Carnitine (L-Carnitine)FDA LinkGeneric 11/2017
1	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 11/2017
1	N 30IBA 01/2017
1	triphosphoric acid (triphosphate)IBA 01/2017
1	Inositol (Myoinositol)IBA 01/2017
1	Inositol 1,4,5-Trisphosphate Receptors (Inositol Triphosphate Receptor)IBA 01/2017
1	BilirubinIBA 11/2016
1	Transaminases (Aminotransferases)IBA 11/2016
1	pyrrolineIBA 01/2016
1	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 01/2016
1	ElectrolytesIBA 01/2016
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 11/2013
1	S-AdenosylhomocysteineIBA 11/2013
1	S-Adenosylmethionine (Ademetionine)IBA 11/2013
1	Adenosine Triphosphate (ATP)IBA 11/2012
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 11/2012
1	Peroxisome Proliferator-Activated Receptors (PPAR)IBA 11/2012
1	Oxygen (Dioxygen)IBA 07/2012
1	DNA (Deoxyribonucleic Acid)IBA 02/2012

Therapy/Procedure

4	Therapeutics 01/2019 - 12/2010
1	Cell Transplantation 03/2015