Sibylle Jablonka

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death.

A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.

Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.

Axonal defects in mouse models of motoneuron disease.

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Bag1 is essential for differentiation and survival of hematopoietic and neuronal cells.

Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy.

Large-scale pathways-based association study in amyotrophic lateral sclerosis.

Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy.

Adenosine receptor A2A-R contributes to motoneuron survival by transactivating the tyrosine kinase receptor TrkB.

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).

Valproic acid blocks excitability in SMA type I mouse motor neurons.

Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy.

Isolation and enrichment of embryonic mouse motoneurons from the lumbar spinal cord of individual mouse embryos.

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.

Stiff person syndrome-associated autoantibodies to amphiphysin mediate reduced GABAergic inhibition.

Isolation and characterization of neural stem cells from the neonatal rat cochlear nucleus.

Growth behavior of cochlear nucleus neuronal cells on semiconductor substrates.

The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.

Therapeutic effects of PEGylated insulin-like growth factor I in the pmn mouse model of motoneuron disease.