Martin W Breuss Selected Research

Pontocerebellar Hypoplasia

1/2021	Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
7/2016	Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
1/2016	Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

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Martin W Breuss Research Topics

Disease

3	Pontocerebellar Hypoplasia 01/2021 - 01/2016
3	Microcephaly 01/2020 - 01/2016
2	Lissencephaly 01/2018 - 01/2017
1	Brain Diseases (Brain Disorder) 01/2021
1	Hemimegalencephaly 03/2020
1	Neurodevelopmental Disorders 01/2017
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2017
1	Motor Disorders 01/2017
1	Polymicrogyria 01/2017

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2020
2	TubulinIBA 01/2017 - 01/2017
2	splicing endonucleaseIBA 07/2016 - 01/2016
1	TOR Serine-Threonine KinasesIBA 03/2020
1	Protein Kinases (Protein Kinase)IBA 03/2020
1	Protein Disulfide-IsomerasesIBA 01/2020
1	CateninsIBA 01/2018