Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Ebiomedicine
Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
Case Reports In Neurological Medicine
Piña-Aguilar, Raul E RE; Vera-Loaiza, Aurea A; Chacón-Camacho, Oscar F OF; Zenteno, Juan Carlos JC; Nuñez-Orozco, Lilia L; Santillán-Hernández, Yuritzi Y
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Plos One
Zech, Michael M; Nübling, Georg G; Castrop, Florian F; Jochim, Angela A; Schulte, Eva C EC; Mollenhauer, Brit B; Lichtner, Peter P; Peters, Annette A; Gieger, Christian C; Marquardt, Thorsten T; Vanier, Marie T MT; Latour, Philippe P; Klünemann, Hans H; Trenkwalder, Claudia C; Diehl-Schmid, Janine J; Perneczky, Robert R; Meitinger, Thomas T; Oexle, Konrad K; Haslinger, Bernhard B; Lorenzl, Stefan S; Winkelmann, Juliane J
Publication Date: 2013
Variant appearance in text: NPC1: 1042C>T; Arg348X