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Neuromuscular Disorders : NMD|November 13, 2009
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophyCorrado Marchini, Sandro Zambito Marsala, Matteo Bendini, et al.
Molecular and Cellular Probes|July 28, 2010
Quick MLPA test for quantification of SMN1 and SMN2 copy numbersNadia Passon, Giorgia Dubsky de Wittenau, Irena Jurman, et al.
Acta Bio-Medica : Atenei Parmensis|February 8, 2022
Amplifying the spectrum of SPAST gene mutationsLorenzo Verriello, Incoronata Renata Lonigro, Maria Elena Pessa, et al.
Human Genetics|April 10, 2025
The molecular landscape of hereditary ataxia: a single-center studyElisa Bregant, Elena Betto, Chiara Dal Secco, et al.
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