Ausgabe 4/2019
Inhalt (7 Artikel)
Nervous NDRGs: the N-myc downstream–regulated gene family in the central and peripheral nervous system
Simone L. Schonkeren, Maartje Massen, Raisa van der Horst, Alexander Koch, Nathalie Vaes, Veerle Melotte
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis
Moran Hausman-Kedem, Shay Ben-Shachar, Shay Menascu, Karen Geva, Liora Sagie, Aviva Fattal-Valevski
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
Priyam Narain, Aditya K. Padhi, Upma Dave, Dibyakanti Mishra, Rohit Bhatia, Perumal Vivekanandan, James Gomes
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
Bassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, Muhannad Daana, Anwar Dudin, Orly Elpeleg, Simon Edvardson, Tamar Harel
Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease
Nicola du Toit, Riaan van Coller, David G. Anderson, Jonathan Carr, Soraya Bardien
Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A
Josef Finsterer