Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Tekijä Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Zerres, K., Wirth, B.
Julkaistu 1996

Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.

Tekijä Rudnik-Schöneborn, S., Zerres, K., Hahnen, E., Meng, G., Voit, T., Hanefeld, F., Wirth, B.
Julkaistu 1996

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implica...

Tekijä Wirth, B, Herz, M, Wetter, A, Moskau, S, Hahnen, E, Rudnik-Schöneborn, S, Wienker, T, Zerres, K
Julkaistu 1999

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Tekijä Wirth, B, Schmidt, T, Hahnen, E, Rudnik-Schöneborn, S, Krawczak, M, Müller-Myhsok, B, Schönling, J, Zerres, K
Julkaistu 1997