Anna-Kaisa Anttonen Selected Research

PEHO syndrome

3/2020	A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
1/2017	ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

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!

Anna-Kaisa Anttonen Research Topics

Disease

2	Muscle Hypotonia (Hypotonia) 03/2020 - 01/2018
2	Brain Diseases (Brain Disorder) 03/2020 - 07/2015
2	PEHO syndrome 03/2020 - 01/2017
2	Neoplasms (Cancer) 01/2020 - 01/2013
2	Seizures (Absence Seizure) 01/2018 - 05/2013
2	Epileptic Syndromes 02/2016 - 01/2016
2	Atrophy 02/2016 - 07/2015
1	Down Syndrome (Down's Syndrome) 03/2022
1	Neurodevelopmental Disorders 03/2022
1	Pontocerebellar Hypoplasia Type 6 03/2020
1	Dementia (Dementias) 01/2020
1	Dystonia (Limb Dystonia) 01/2020
1	Epilepsy (Aura) 01/2020
1	Fragile X Syndrome (Martin Bell Syndrome) 01/2020
1	Parkinsonian Disorders (Parkinsonism) 01/2020
1	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions) 01/2018
1	Channelopathies 01/2018
1	Megalencephaly 01/2018
1	Muscle Spasticity (Spastic) 07/2015
1	Quadriplegia (Spastic Quadriplegia) 07/2015
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2015
1	Familial paroxysmal dystonia 05/2013
1	Tuberous Sclerosis (Bourneville's Disease) 01/2013
1	Mitochondrial Diseases (Mitochondrial Disease) 08/2009
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 08/2009
1	Liver Failure 08/2009

Drug/Important Bio-Agent (IBA)

2	EnzymesIBA 03/2020 - 01/2016
2	Lactic Acid (Lactate)FDA LinkGeneric 03/2020 - 07/2015
1	Cell-Free Nucleic AcidsIBA 03/2022
1	Transcription Factors (Transcription Factor)IBA 03/2022
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 03/2020
1	Arginine (L-Arginine)FDA Link 03/2020
1	MicroRNAs (MicroRNA)IBA 01/2020
1	Circulating Tumor DNAIBA 01/2020
1	IronIBA 01/2020
1	Ion Channels (Ion Channel)IBA 01/2018
1	Voltage-Gated Sodium ChannelsIBA 01/2018
1	Pharmaceutical PreparationsIBA 01/2018
1	Leucine (L-Leucine)FDA Link 01/2017
1	Mutant Proteins (Protein, Mutant)IBA 01/2017
1	Proteins (Proteins, Gene)FDA Link 01/2017
1	Codon (Codons)IBA 01/2017
1	Serine (L-Serine)FDA Link 01/2017
1	LigandsIBA 02/2016
1	Transfer RNA (tRNA)IBA 07/2015
1	SelenocysteineIBA 07/2015
1	selenocysteinyl-tRNAIBA 07/2015
1	Selenoproteins (Selenoprotein)IBA 07/2015
1	dichlorobis(azomycin)platinum IIIBA 01/2015
1	DNA (Deoxyribonucleic Acid)IBA 01/2015
1	human PRRT2 proteinIBA 05/2013
1	Sirolimus (Rapamycin)FDA Link 01/2013
1	Sodium Channels (Sodium Channel)IBA 08/2009
1	Valproic Acid (Depakote)FDA LinkGeneric 08/2009