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Neurobiology of Aging|September 13, 2015
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patientsAnnemarie Hübers, Walter Just, Angela Rosenbohm, et al.
Molecular Oncology|November 25, 2015
Transcription factor activating protein 2 beta (TFAP2B) mediates noradrenergic neuronal differentiation in neuroblastomaFakhera Ikram, Sandra Ackermann, Yvonne Kahlert, et al.
Nature Genetics|January 18, 2005
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2Louise A Metherell, J Paul Chapple, Sadani Cooray, et al.
Human Genetics|December 17, 2002
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab EmiratesKatja Martina Eckl, Howard P Stevens, Gilles G Lestringant, et al.
Human Genetics|April 21, 2015
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3Birgit S Budde, Shuji Mizumoto, Ryo Kogawa, et al.
Biological Chemistry|April 22, 2005
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3Dieter E Jenne, Rudi A Kley, Matthias Vorgerd, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 20, 2008
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's diseaseAleksandar Rakovic, Barbara Stiller, Ana Djarmati, et al.
Brain : a Journal of Neurology|December 20, 2015
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsyKerstin Hallmann, Alexei P Kudin, Gábor Zsurka, et al.
American Journal of Human Genetics|September 3, 2002
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionEdgar Otto, Julia Hoefele, Rainer Ruf, et al.
BMC Medical Genomics|October 22, 2021
Association between genetic variants of the cholinergic system and postoperative delirium and cognitive dysfunction in elderly patientsMaria Heinrich, Miriam Sieg, Jochen Kruppa, et al.
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