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neurogenetics

Volume 20, Issue 4, October 2019

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1. Nervous NDRGs: the N-myc downstream–regulated gene family in the central and peripheral nervous system

Tác giả

Simone L. Schonkeren, Maartje Massen, Raisa van der Horst, Alexander Koch.

2. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis

Tác giả

Moran Hausman-Kedem, Shay Ben-Shachar, Shay Menascu, Karen Geva.

3. Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients

Tác giả

Priyam Narain, Aditya K. Padhi, Upma Dave, Dibyakanti Mishra, Rohit Bhatia.

4. Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

Tác giả

Bassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, Muhannad Daana.

5. Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease

Tác giả

Nicola du Toit, Riaan van Coller, David G. Anderson, Jonathan Carr.

6. Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A

Tác giả

Josef Finsterer.

7. Acknowledgement to referees 2018/2019

Tác giả