Publications:

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications

Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL

Publication Date: 2020

Variant appearance in text: SMN1: 542A>G

PubMed Link: 32954327

Variant Present in the following documents:

• Main text
• fcaa075.pdf
• fcaa075_supplementary_data.pdf

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Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy.

Neurology. Genetics

Wadman, Renske I RI; Jansen, Marc D MD; Curial, Chantall A D CAD; Groen, Ewout J N EJN; Stam, Marloes M; Wijngaarde, Camiel A CA; Medic, Jelena J; Sodaar, Peter P; van Eijk, Kristel R KR; Huibers, Manon M H MMH; van Kuik, Joyce J; Lemmink, Henny H HH; van Rheenen, Wouter W; Veldink, Jan Herman JH; van den Berg, Leonard H LH; van der Pol, W Ludo WL

Publication Date: 2020-02

Variant appearance in text: SMN1: 542A>G

PubMed Link: 32042914

Variant Present in the following documents:

• Main text
• NG2019011015.pdf

View BVdb publication page