Frank Baas Selected Research

Pontocerebellar Hypoplasia

1/2021	Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.
3/2017	Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
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.
4/2011	Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
1/2011	Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
9/2008	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

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Frank Baas Research Topics

Disease

11	Neoplasms (Cancer) 08/2017 - 04/2002
8	Pneumococcal Meningitis (Streptococcus pneumoniae Meningitis) 01/2017 - 10/2011
7	Pontocerebellar Hypoplasia 01/2021 - 09/2008
7	Alzheimer Disease (Alzheimer's Disease) 09/2008 - 03/2004
4	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2018 - 12/2007
4	Inflammation (Inflammations) 11/2017 - 06/2009
4	Infections 01/2017 - 04/2008
4	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2016 - 01/2012
4	Bacterial Meningitis 03/2013 - 10/2011
3	Wounds and Injuries (Trauma) 05/2022 - 07/2007
3	Neurilemmoma (Schwannoma) 01/2019 - 04/2007
3	Atrophy 01/2018 - 11/2014
3	Multiple Sclerosis 01/2017 - 01/2012
3	Dystonia (Limb Dystonia) 07/2014 - 10/2010
3	Pneumococcal Infections 06/2014 - 10/2011
3	Schizophrenia (Dementia Praecox) 07/2011 - 04/2007
3	Medulloblastoma 07/2008 - 03/2002
3	Crush Injuries 04/2008 - 02/2004
2	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 01/2021 - 02/2003
2	Dementia (Dementias) 01/2020 - 04/2006
2	Rheumatoid Arthritis 10/2019 - 11/2017
2	Microcephaly 12/2018 - 10/2016
2	Brain Diseases (Brain Disorder) 12/2018 - 10/2016
2	Experimental Autoimmune Encephalomyelitis (Encephalomyelitis, Autoimmune Experimental) 01/2018 - 01/2012
2	Pontocerebellar Hypoplasia Type 6 01/2017 - 01/2011
2	Leprosy (Hansen's Disease) 01/2017 - 05/2015
2	Seizures (Absence Seizure) 10/2016 - 11/2014
2	Intellectual Disability (Idiocy) 10/2016 - 11/2014
2	Cholangitis 01/2016 - 06/2013
2	Immunoglobulin G4-Related Disease 01/2016 - 06/2013
2	Muscular Diseases (Myopathy) 09/2015 - 11/2002
2	Myoclonic dystonia 02/2015 - 04/2011
2	Schwannomatosis 09/2014 - 02/2012
2	Asthma (Bronchial Asthma) 09/2013 - 05/2013
2	Torticollis (Wryneck) 03/2013 - 05/2012
2	22q11 Deletion Syndrome 09/2011 - 07/2011
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 06/2010 - 12/2007
2	Amyloid Plaque 02/2010 - 04/2006
2	Peripheral Nerve Injuries 12/2009 - 05/2009
2	Wallerian Degeneration 05/2009 - 07/2007
2	Neutropenia 05/2004 - 11/2002
2	Barth Syndrome 05/2004 - 11/2002
1	Disease Progression 01/2022
1	Pancreatitis 01/2022
1	Agammaglobulinemia (Hypogammaglobulinemia) 01/2021
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2021
1	Thalassemia 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Stroke (Strokes) 01/2020
1	Hereditary Hemorrhagic Telangiectasia 01/2020
1	CADASIL 01/2020
1	Rheumatic Diseases (Rheumatism) 10/2019

Drug/Important Bio-Agent (IBA)

24	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2002
14	Complement System Proteins (Complement)IBA 05/2022 - 02/2004
5	splicing endonucleaseIBA 01/2021 - 09/2008
5	RNA (Ribonucleic Acid)IBA 01/2016 - 04/2008
5	Dopamine (Intropin)FDA LinkGeneric 07/2014 - 01/2008
4	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 12/2005
4	Complement Membrane Attack Complex (Membrane Attack Complex)IBA 01/2018 - 07/2007
4	RNA Polymerase II (RNA Polymerase B)IBA 12/2005 - 04/2002
3	Mannose-Binding Lectin (Mannan-Binding Lectin)IBA 01/2017 - 01/2013
3	Codon (Codons)IBA 12/2016 - 02/2010
3	Immunoglobulins (Immunoglobulin)IBA 01/2016 - 06/2009
3	locked nucleic acidIBA 07/2010 - 02/2003
3	Small Interfering RNA (siRNA)IBA 07/2010 - 03/2007
2	Glucose (Dextrose)FDA LinkGeneric 01/2019 - 01/2016
2	Coenzyme A (CoA)IBA 12/2018 - 09/2014
2	EnzymesIBA 12/2018 - 01/2002
2	ChromatinIBA 10/2018 - 02/2012
2	Anaphylatoxin C5a ReceptorIBA 01/2018 - 10/2011
2	AutoantibodiesIBA 11/2017 - 02/2003
2	Arginine-tRNA LigaseIBA 01/2017 - 07/2011
2	Monoclonal AntibodiesIBA 01/2017 - 10/2011
2	CytokinesIBA 01/2017 - 01/2016
2	lipoarabinomannan (LAM)IBA 01/2017 - 05/2015
2	Complement C3 (C3 Complement)IBA 01/2017 - 03/2013
2	Serine Proteases (Serine Protease)IBA 01/2017 - 01/2017
2	Immunoglobulin G (IgG)IBA 01/2016 - 02/2003
2	Oxidoreductases (Dehydrogenase)IBA 09/2014 - 07/2002
2	SteroidsIBA 09/2013 - 05/2013
2	Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA 01/2011 - 01/2008
2	Nucleic AcidsIBA 07/2010 - 03/2007
2	Myelin ProteinsIBA 06/2010 - 04/2005
2	Sarcoglycans (beta Sarcoglycan)IBA 10/2008 - 04/2008
2	Peptides (Polypeptides)IBA 09/2008 - 10/2007
2	Amyloid beta-PeptidesIBA 09/2008 - 10/2007
2	Antisense OligonucleotidesIBA 02/2003 - 04/2002
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2022
1	myo-inositol-1 (or 4)-monophosphatase (inositol monophosphatase)IBA 01/2021
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2021
1	Hemoglobins (Hemoglobin)IBA 01/2021
1	Biomarkers (Surrogate Marker)IBA 01/2021
1	Intravenous Immunoglobulins (IVIG)FDA Link 01/2021
1	RNA Precursors (Precursor, mRNA)IBA 01/2021
1	Amino Acids FDA Link 01/2020
1	Cysteine (L-Cysteine)FDA Link 01/2020
1	Notch3 ReceptorIBA 01/2020
1	Rituximab (Mabthera)FDA Link 10/2019

Therapy/Procedure

10	Therapeutics 10/2019 - 03/2002
1	Plasma Exchange 01/2021