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List of works by Yuh-Jyh Jong

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

scientific article published on 16 May 2016

An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy

scientific article

Botulism with Unusual Rapid Progression to Complete Paralysis in a Child.

scientific article published on 4 June 2013

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

scientific article published on 23 June 2020

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

scientific article

Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

scientific article published on 10 August 2017

Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.

scientific article published on 20 October 2016

Imbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant SOD2 in Fabry Disease-Specific Human Induced Pluripotent Stem Cell-Differentiated Vascular Endothelial Cells

scientific article

Increased risk of epilepsy in children with Tourette syndrome: A population-based case-control study

scientific article published on 17 November 2015

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation

scientific article

Is carotid sonography a useful tool for predicting functional capabilities in ischemic stroke patients following carotid artery stenting?

scientific article published on March 2017

Life-threatening Dilated Cardiomyopathy Induced by Late-onset Neonatal Hypocalcemia

scientific article published on 4 November 2014

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.

scientific article published on 7 March 2013

Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy.

scientific article published on 27 May 2016

Manifesting pediatric carrier of isolated dystrophinopathy with initial presentation of myalgia and persistent hyperCKemia.

scientific article published on 16 September 2012

Membrane protein-regulated networks across human cancers

scientific article published on 16 July 2019

Musashi-1 promotes a cancer stem cell lineage and chemoresistance in colorectal cancer cells

scientific article

Muscle developmental defects in heterogeneous nuclear Ribonucleoprotein A1 knockout mice

scientific article published on January 2017

Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.

scientific article published on 9 December 2016

Noninvasive airway approaches for acute neuromuscular respiratory failure in emergency departments.

scientific article

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.

scientific article

Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.

scientific article published on 21 January 2013

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

scientific article

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.

scientific article published on 2 February 2016

Securinine enhances SMN2 exon 7 inclusion in spinal muscular atrophy cells

scientific article published on 30 January 2017

Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides

scientific article

The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience.

scientific article published on 25 August 2017

The water extract of Liuwei dihuang possesses multi-protective properties on neurons and muscle tissue against deficiency of survival motor neuron protein

scientific article published on 18 August 2017

Therapeutic Hypothermia for Neonates with Hypoxic Ischemic Encephalopathy.

scientific article

Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.

scientific article published on 13 December 2016

Valproate-induced hyperammonemic encephalopathy

scientific article published on 01 October 2008

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