Kirsten Svenstrup

Corticobasal and ataxia syndromes widen the spectrum of <i>C9ORF72</i> hexanucleotide expansion disease

SG Lindquist, Mustafa Batbayli, Andreas Puschmann et al. · Clinical Genetics · 2012 · 140 citations

Novel mutation in <i>ATP13A2</i> widens the spectrum of Kufor‐Rakeb syndrome (PARK9)

Hans Eiberg, Lars Hestbjerg Hansen, Lise Korbo et al. · Clinical Genetics · 2011 · 61 citations

Clinical and molecular characterization of limb‐girdle muscular dystrophy due to <i>LAMA2</i> mutations

Bruno F. Gavassini, Nicola Carboni, Jørgen E. Nielsen et al. · Muscle & Nerve · 2011 · 60 citations

Improved Glucose Tolerance and Acinar Dysmorphogenesis by Targeted Expression of Transcription Factor PDX-1 to the Exocrine Pancreas

R. Scott Heller, Doris A. Stoffers, Troels Bock et al. · Diabetes · 2001 · 59 citations · Full text

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

Jakob Hansen, Kirsten Svenstrup, D. D. Ang et al. · Journal of Neurology · 2007 · 52 citations

Novel Mutation, Rare Diseases, Mendelian Disorder +9