Researchers at Boston Children's Hospital have generated human stem cells from a family with HSP type 47 (AP4B1).
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International
Publication: Human stem cells for the rare HSP form SPG47
De novo and dominant mutations in the kinesin gene KIF1A are a common cause of HSP.
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International
Researchers at Radboud University in Nijmegen, Holland, identify heterozygous KIF1A variants in 6-7% of cases with HSP. Thus, KIF1A mutations are a…
Severe childhood-onset form of SPG4
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International
A particular variant in the SPAST gene, responsible for the most common form of HSP (SPG4), leads to a severe, early-onset form of HSP.
Project start of the BMBF-funded TreatHSP network on 01.05.2019
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International
The BMBF-funded treatHSP network will start officially on 01.05.2019.
Publication: Botulinum toxin injections and stretching exercises lead to functional improvement
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International
Publication: Combined botulinum toxin injections into hip adductors and daily stretching exercises lead to functional improvement of gait parameters…
Publication: UBAP1 - a novel HSP gene
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International
An international group of scientists succeeded in identifying a new HSP gene.