Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders. Numerous genes linked to HSPs, overlapping phenotypes between HSP subtypes and other neurodegenerative disorders and the HSPs’ dual mode of inheritance (both dominant and recessive) make t...

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Sparad:
Bibliografiska uppgifter
I publikationen:Neurogenetics
Huvudupphovsmän: Elert-Dobkowska, Ewelina, Stepniak, Iwona, Krysa, Wioletta, Ziora-Jakutowicz, Karolina, Rakowicz, Maria, Sobanska, Anna, Pilch, Jacek, Antczak-Marach, Dorota, Zaremba, Jacek, Sulek, Anna
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2019
Ämnen:
Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6411833/
https://ncbi.nlm.nih.gov/pubmed/30778698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-019-00565-6
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