Prof. Dr. med. Markus Schülke-Gerstenfeld

MyoGrad Projektleiter, Berlin
Projektleiter KFO 192
NeuroCure Clinical Research Center
Charité - Universitätsmedizin Berlin
 
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Phone: +49 30 450 539 015
Fax:     +49 30 450 539 935


Verantwortungsbereiche

MyoGrad – Projekt 1: Muscle growth regulation
KFO 192 – Projekt 7: Dynamik der Caveolae



Scientific background

1983-1989 
Medical School: University of the Saarland (Homburg), Free University Berlin, University College Dublin, University Hong Kong

1990-1992 
Internship: University Children’s Hospital, University Cologne

1992-1993 
Participation at a WHO Polio eradication project at Allahabad, U.P. (India)

1993-1996  
Residency: University Children’s Hospital of the Charité, Berlin

1997-1999  
DFG Research grant at the „Nijmegen Center for Mitochondrial Disorders” in the Netherlands

1999 
Board certification for Pediatrics and Consultant neuropediatrician

2002 
Faculty rank (Habilitation) in Pediatrics

2003 
C3 Professorship for Neuropediatric and Genetics Research at the Charité

2007 
Board certification for Neuropediatrics

2008 
W2-Professorship and Head of the Department of Developmental Disorders of the Nervous System at the NeuroCure Clinical Research Center, Charité


Honors and awards

2008 
Member of the Editorial board of the Journal of Biomedicine and Biotechnology

2007 
Member of the Forschungskommission of the Charité

2005 
Scientific Award (First Price), NeuroWiss Verein zur Förderung der Neurologischen Wissenschaften, Frankfurt

1999-2000 
First place in the clinical teachers ranking at the Children’s Hospital of the Charité

1997-1999 
DFG Research Scholarship, Nijmegen Center for Mitochondrial Disorders, The Netherlands

1984-1989 
Scholarship of the „Studienstiftung des Deutschen Volkes“


Selected publications

Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L. (1999) Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy, Nat Genet 21:260-261.

Schuelke M. (2000) An economic method for the fluorescent labeling of PCR fragments, Nat Bio-technol 18, 233-234.

Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ. (2004) Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med 350, 2682-2688.

Guenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lützkendorf S, Hübner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M (2009). Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med 87:31-41

Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M. (2010) Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genetics March 12 – in press