Nina Schlipf

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Rebecca Schüle, Nina Schlipf, Matthis Synofzik et al. · Journal of Neurology Neurosurgery & Psychiatry · 2009 · 78 citations

Veterinary Medicine, Infectious Diseases, Comparative Epidemiology +10

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Alrun Hotz, Vinzenz Oji, E. Bourrat et al. · Acta Dermato Venereologica · 2015 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Peter Bauer, Esther Leshinsky‐Silver, Lubov Blumkin et al. · Neurogenetics · 2012 · 61 citations · Full text

Life Sciences, Genetics, Neurology +7

Sixteen novel mutations in <i>PNPLA1</i> in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in <i>PNPLA1</i> that is essential for proper human skin barrier function

Andreas Zimmer, G.J. Kim, Alrun Hotz et al. · British Journal of Dermatology · 2017 · 31 citations

Life Sciences, Genetics, Molecular Genetics +16

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

Nina Schlipf, Christian Beetz, Rebecca Schüle et al. · European Journal of Human Genetics · 2010 · 29 citations · Full text

Life Sciences, Genetics, Neurology +7