Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.

Tekijä Talbot, K, Rodrigues, N, Bernert, G, Bittner, R, Davies, K
Julkaistu 1996

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Tekijä Auer-Grumbach, M., Fischer, C., Papić, L., John, E., Plecko, B., Bittner, R. E., Bernert, G., Pieber, T. R., Miltenberger, G., Schwarz, R., Windpassinger, C., Grill, F., Timmerman, V., Speicher, M. R., Janecke, A. R.
Julkaistu 2008