Rüstem Yilmaz Selected Research

Kaufman oculocerebrofacial syndrome

1/2021	The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
7/2014	Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

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Rüstem Yilmaz Research Topics

Disease

3	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022 - 01/2018
2	Kaufman oculocerebrofacial syndrome 01/2021 - 07/2014
2	Intellectual Disability (Idiocy) 12/2015 - 07/2014
2	Blepharophimosis 12/2015 - 07/2014
1	Tremor (Tremors) 01/2023
1	Dementia (Dementias) 01/2023
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2018
1	Paraplegia (Spastic Paraplegia) 01/2018
1	Malformed Nails (Pachyonychia) 02/2016
1	Hearing Loss (Hearing Impairment) 02/2016
1	Failure to Thrive 07/2014
1	Muscle Hypotonia (Hypotonia) 07/2014
1	Eye Abnormalities (Eye Abnormality) 07/2014
1	Inflammation (Inflammations) 03/2013
1	Cataract (Cataracts) 02/2012

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2018
2	KinesinsIBA 01/2022 - 01/2018
1	Amyloid (Amyloid Fibrils)IBA 01/2023
1	NucleotidesIBA 01/2018
1	Protein Kinases (Protein Kinase)IBA 02/2016
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 12/2015
1	CholesterolIBA 07/2014
1	Chemotactic FactorsIBA 03/2013
1	ChemokinesIBA 03/2013
1	Blood Group Antigens (Blood Groups)IBA 02/2012