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List of works by Dian K Nurputra

Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells

scientific article published on 5 September 2017

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.

scientific article published on 17 December 2013

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis ⬇️

scientific article published on June 13, 2013

Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.

scientific article published on 10 July 2012

Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells

scientific article published on 28 October 2015

Spinal Muscular Atrophy Patient Detection and Carrier Screening Using Dried Blood Spots on Filter Paper ⬇️

scientific article published on September 23, 2011

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.

scientific article published on 31 October 2014

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity

scientific article published on 28 February 2015

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines ⬇️

scientific article published on May 11, 2011

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