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Identification and functional characterisation of novel genes in hereditary neuropathies - Part II

Project Leader:

Auer-Grumbach Michaela

Duration:

01.04.2011-31.03.2015

Programme:

Einzelprojekt

Type of Research

basic research

Staff

Auer-Grumbach, Michaela, Project Leader

MUG Research Units

Division of Endocrinology and Diabetology

Funded by

FWF, Fonds zur Förderung der Wissenschaftlichen Forschung, Wien, Austria

FWF-Grant-DOI: 10.55776/P23223

Project results published

> Mutations at Ser331 in the HSN type I gene SPTLC1 ... Eur J Med Genet. 2013; 56(5):266-269

> Loss-of-function mutations in HINT1 cause axonal n... NAT GENET. 2012; 44(10): 1080-1083.

> Clinical and genetic findings in a large cohort of... HUM MUTAT. 2012; 33(6): 981-988.

> Exome Sequencing Identifies a REEP1 Mutation Invol... Am J Hum Genet. 2012; 91(1):139-145