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Nonconvulsive Status Epilepticus in Children: Clinical and EEG Characteristics

Epilepsia (Copenhagen), 2006-09, Vol.47 (9), p.1504-1509

2006

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Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV

Human molecular genetics, 2011-11, Vol.20 (22), p.4430-4439

2011

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Impaired Development of Neural-Crest Cell-Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency

Human mutation, 2014-11, Vol.35 (11), p.1311-1320

2014

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Simplified Molecular Diagnosis of Fragile X Syndrome by Fluorescent Methylation-Specific PCR and GeneScan Analysis

Clinical chemistry (Baltimore, Md.), 2006-08, Vol.52 (8), p.1492-1500

2006

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CISH and Susceptibility to Infectious Diseases

The New England journal of medicine, 2010-06, Vol.362 (22), p.2092-2101

2010

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Identification of the first COG–CDG patient of Indian origin

Molecular genetics and metabolism, 2011-03, Vol.102 (3), p.364-367

2011

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Mild Neurological Manifestations Associated With Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Hospitalized Children During the Omicron Wave in Singapore: A Retrospective Cohort Review

Pediatric neurology, 2024-01, Vol.150, p.57-62

2024

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Evidence for inefficient contraction and abnormal mitochondrial activity in sarcopenia using magnetic resonance spectroscopy

Journal of cachexia, sarcopenia and muscle, 2023-06, Vol.14 (3), p.1482-1494

2023

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Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR

The Journal of molecular diagnostics : JMD, 2021-08, Vol.23 (8), p.941-951

2021

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Myotoxicity of Lipid-Lowering Agents in a Teenager With MELAS Mutation

Pediatric neurology, 2008-12, Vol.39 (6), p.426-428

2008

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Current strategies in management of Duchenne muscular dystrophy: allowing patients to live with hope

Annals of the Academy of Medicine, Singapore, 2012-02, Vol.41 (2), p.44-46

2012

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Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

Annals of human genetics, 2013-09, Vol.77 (5), p.435-463

2013

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Factors predictive of outcome in childhood stroke in an Asian population

Annals of the Academy of Medicine, Singapore, 2009-10, Vol.38 (10), p.876-881

2009

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Elevated Thyroid Peroxidase Antibodies with Encephalopathy in MELAS Syndrome

Pediatric neurology, 2007-06, Vol.36 (6), p.414-417

2007

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Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Archives of neurology (Chicago), 2006-02, Vol.63 (2), p.281

2006

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Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality

Archives of neurology (Chicago), 2004-06, Vol.61 (6), p.950

2004

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Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA

Journal of child neurology, 2005-02, Vol.20 (2), p.142-146

2005

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Mitochondrial oxidative capacity and NAD+ biosynthesis are reduced in human sarcopenia across ethnicities

Nature communications, 2019-12, Vol.10 (1), p.5808-14, Article 5808

2019

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Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis

Analytical biochemistry, 2011-03, Vol.410 (1), p.158-160

2011

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Clinical and Biochemical Characterization of a Patient with Congenital Disorder of Glycosylation (CDG) IIx

The Journal of pediatrics, 2005-12, Vol.147 (6), p.851-853

2005

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Chronic Phenobarbital-Induced Mitochondrial Pleomorphism in the Rat Liver

Toxicologic pathology, 2007-10, Vol.35 (6), p.831-833

2007

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Changes in PDE4D isoforms in the hippocampus of a patient with advanced Alzheimer disease

Archives of neurology (Chicago), 2007-03, Vol.64 (3), p.456

2007

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Chronic Phenobarbital-Induced Mitochondrial Pleomorphism in the Rat Liver

Toxicologic pathology, 2007-10, Vol.35 (6), p.833-835

2007

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Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency

Archives of neurology (Chicago), 2004-12, Vol.61 (12), p.1935

2004

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Nonconvulsive Status Epilepticus in Children: Clinical and EEG Characteristics

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV

Impaired Development of Neural-Crest Cell-Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency

Simplified Molecular Diagnosis of Fragile X Syndrome by Fluorescent Methylation-Specific PCR and GeneScan Analysis

CISH and Susceptibility to Infectious Diseases

Identification of the first COG–CDG patient of Indian origin

Mild Neurological Manifestations Associated With Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Hospitalized Children During the Omicron Wave in Singapore: A Retrospective Cohort Review

Evidence for inefficient contraction and abnormal mitochondrial activity in sarcopenia using magnetic resonance spectroscopy

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR

Myotoxicity of Lipid-Lowering Agents in a Teenager With MELAS Mutation

Trigonelline is an NAD+ precursor that improves muscle function during ageing and is reduced in human sarcopenia

Current strategies in management of Duchenne muscular dystrophy: allowing patients to live with hope

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

Factors predictive of outcome in childhood stroke in an Asian population

Elevated Thyroid Peroxidase Antibodies with Encephalopathy in MELAS Syndrome

Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality

Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA

Mitochondrial oxidative capacity and NAD+ biosynthesis are reduced in human sarcopenia across ethnicities

Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis

Clinical and Biochemical Characterization of a Patient with Congenital Disorder of Glycosylation (CDG) IIx

Chronic Phenobarbital-Induced Mitochondrial Pleomorphism in the Rat Liver

Changes in PDE4D isoforms in the hippocampus of a patient with advanced Alzheimer disease

Chronic Phenobarbital-Induced Mitochondrial Pleomorphism in the Rat Liver

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency

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