Latest papers

[Lamotrigine on motor symptoms of spinal muscular atrophies].

Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA).

The SMN interactome includes Myb-binding protein 1a.

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy.

Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy.

Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi.

[Quantitative analysis of the genes determining spinal muscular atrophy].

Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy.

Specific N-terminal mutations in the human androgen receptor induce cytotoxicity.

Spinal muscular atrophy during human development: where are the early pathogenic findings?

Mini-open versus conventional open posterior lumbar interbody fusion for the treatment of lumbar degenerative spondylolisthesis: comparison of paraspinal muscle damage and slip reduction.

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy.

[Gene diagnosis for spinal muscular atrophy and its application study].

Posterior multilevel vertebral osteotomy for correction of severe and rigid neuromuscular scoliosis: a preliminary study.

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery

The AJMG SEQUENCE: Decoding news and trends for the medical genetics community.

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.