Lehrstuhl für Humangenetik

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 The clinical significance of small copy number variants in neurodevelopmental disorders (2014) Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, et al. Journal article The proinflammatory effect of C-reactive protein on human endothelial cells depends on the Fc?RIIa genotype (2014) Raaz-Schrauder D, Ekici AB, Klinghammer L, Stumpf C, Achenbach S, Herrmann M, Reis A, Garlichs C Journal article α-Synuclein oligomers impair neuronal microtubule-kinesin interplay. (2013) Winner B, Prots I, Brey S Journal article De novo mutations in the genome organizer CTCF cause intellectual disability (2013) Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, et al. Journal article