Lehrstuhl für Humangenetik

CAGn repeat of the androgen receptor is linked to proopiomelanocortin promoter methylation-relevance for craving of male alcohol-dependent patients? (2014) Muschler MAN, Lenz B, Hillemacher T, Kraus C, Kornhuber J, Frieling H, Bleich S Journal article A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype (2014) Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Ortiz C, Heuss D, Del Valle G, Rautenstrauß B Journal article Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin (2014) Ekici AB, Hackenbeck T, Moriniere V, Panness A, Büttner M, Uebe S, Janka RM, et al. Journal article Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome (2014) Van Rahden VA, Rau I, Fuchs S, Kosyna FK, De Almeida HL, Fryssira H, Isidor B, et al. Journal article Duchenne muscular dystrophy and malignant hyperthermia: a genetic study of the ryanodine receptor in 47 patients (2014) Rohde D, Schmitt H, Winterpacht A, Münster T Journal article A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 (2014) Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, et al. Journal article The Ca2+ sensor protein swiprosin-1/EFhd2 is present in neurites and involved in kinesin-mediated transport in neurons (2014) Purohit P, Perez-Branguli F, Prots I, Borger E, Gunn-Moore F, Welzel O, Loy K, et al. Journal article ?-Synuclein impairs oligodendrocyte progenitor maturation in multiple system atrophy (2014) May VEL, Ettle B, Pöhler AM, Nuber S, Ubhi K, Rockenstein E, Winner B, et al. Journal article Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia (2014) Perez-Branguli F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, et al. Journal article Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations (2014) Basel-Vanagaite L, Yilmaz R, Tang S, Reuter M, Rahner N, Grange DK, Mortenson M, et al. Journal article