Records 1 - 2
| NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.
Journal of neurology 2015 Sep .
Synofzik Matthis, Harmuth Florian, Stampfer Miriam, Müller Vom Hagen Jennifer, Schöls Ludger, Bauer Pet
| High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Mar .
Wassif Christopher A, Cross Joanna L, Iben James, Sanchez-Pulido Luis, Cougnoux Antony, Platt Frances M, Ory Daniel S, Ponting Chris P, Bailey-Wilson Joan E, Biesecker Leslie G, Porter Forbes