Tobias Willer Selected Research

Guanosine Diphosphate Mannose (GDP Mannose)

12/2015	GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
7/2013	Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

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Tobias Willer Research Topics

Disease

11	Muscular Dystrophies (Muscular Dystrophy) 11/2016 - 04/2005
6	Walker-Warburg Syndrome 04/2014 - 04/2005
5	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2016 - 04/2005
2	Neuromuscular Diseases (Neuromuscular Disease) 10/2014 - 10/2003
2	Intellectual Disability (Idiocy) 04/2011 - 04/2005
1	Infections 01/2022
1	Contracture 01/2018
1	Hypertrophy 01/2017
1	Cobblestone Lissencephaly 11/2016
1	Congenital Disorders of Glycosylation 11/2013
1	Microcephaly 11/2013
1	Muscle Hypotonia (Hypotonia) 11/2013
1	Chromosome Duplication 04/2011
1	Cognitive Dysfunction 03/2011
1	Neoplasms (Cancer) 04/2009
1	Lung Neoplasms (Lung Cancer) 04/2009
1	Hydrocephalus (Hydrocephaly) 10/2008

Drug/Important Bio-Agent (IBA)

17	Dystroglycans (Dystroglycan)IBA 01/2022 - 04/2005
5	Proteins (Proteins, Gene)FDA Link 01/2022 - 10/2003
4	LigandsIBA 01/2022 - 03/2013
3	Laminin (Merosin)IBA 01/2022 - 04/2009
2	Creatine Kinase (Creatine Phosphokinase)IBA 11/2016 - 11/2013
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 12/2015 - 07/2013
2	mannose 1-phosphate guanylyltransferaseIBA 12/2015 - 07/2013
2	protein O-mannosyltransferase (dolichyl-phosphate-mannose - protein mannosyltransferase)IBA 04/2014 - 04/2005
1	Mannose (D-Mannose)IBA 01/2022
1	DisaccharidesIBA 01/2022
1	activin AIBA 01/2017
1	GlycosyltransferasesIBA 01/2016
1	SugarsIBA 12/2015
1	Nonsense Codon (Nonsense Mutation)IBA 04/2014
1	Protein CIBA 04/2014
1	AntibodiesIBA 11/2013
1	CarbohydratesIBA 11/2013
1	Polysaccharides (Glycans)IBA 03/2013
1	Terpenes (Terpenoids)IBA 01/2013
1	DNA (Deoxyribonucleic Acid)IBA 04/2011
1	A-factor (Streptomyces)IBA 04/2009
1	EnzymesIBA 08/2008
1	MannosyltransferasesIBA 08/2008

Therapy/Procedure

1	Tenotomy 01/2018