Search Results - "Puvanarajah, Santhi"
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Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson’s disease in patients of Malay ancestry
Published in Neurological sciences (01-10-2021)“…Background Genome-wide association studies (GWAS) have shown that variants in the 3-methylcrotonyl-CoA carboxylase ( MCCC1 )/lysosome-associated membrane…”
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Identifying factors in the provision of intravenous stroke thrombolysis in Malaysia: a multiple case study from the healthcare providers' perspective
Published in BMC health services research (05-01-2024)“…Translation into clinical practice for use of intravenous thrombolysis (IVT) for the management of ischemic stroke remains a challenge especially across low-…”
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3
LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case–control association study for Parkinson's disease
Published in Molecular genetics & genomic medicine (01-11-2019)“…Background The LRRK2 gene is associated with Parkinson's disease (PD) as a number of mutations within the gene have been shown to be susceptibility factors…”
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4
Stroke thrombolysis in a middle-income country: A case study exploring the determinants of its implementation
Published in Frontiers in neurology (24-11-2022)“…Translation of evidence into clinical practice for use of intravenous thrombolysis in acute stroke care has been slow, especially across low- and middle-income…”
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5
Coupling Genotyping and Computational Modeling in Prediction of Anti-epileptic Drugs that cause Stevens Johnson Syndrome and Toxic Epidermal Necrolysis for Carrier of HLA-B15:02
Published in Journal of pharmacy & pharmaceutical sciences (2016)“…The importance of HLA-B*15:02 genotyping to avoid carbamazepine induced SJS/TEN and molecular modeling to predict the role of HLA-B*15:0 and AEDs induced…”
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LRRK2 G2385R and R1628P Mutations Are Associated with an Increased Risk of Parkinson’s Disease in the Malaysian Population
Published in BioMed research international (01-01-2014)“…The LRRK2 gene has been associated with both familial and sporadic forms of Parkinson’s disease (PD). The G2019S variant is commonly found in North African…”
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Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia
Published in Cerebellum & ataxias (03-08-2020)“…Abstract Spinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the…”
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The Frequency of Anti-Aquaporin-4 Ig G Antibody in Neuromyelitis Optica and Its Spectrum Disorders at a Single Tertiary Referral Center in Malaysia
Published in Multiple Sclerosis International (01-01-2014)“…Background. In the past the occurrence of neuromyelitis optica in Malaysia was thought to be uncommon and the frequency of anti-aquaporin-4 Ig G antibody was…”
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Guillain-Barré Syndrome, variants & forms fruste: Reclassification with new criteria
Published in Clinical neurology and neurosurgery (01-07-2017)“…Highlights • Clinical presentation and phenotype recognition in Guillain-Barré syndrome (GBS) allow precise subtypes classification. • Clinical subtypes…”
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Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features
Published in Journal of Neural Transmission (2022)“…GBA variants are associated with increased risk and earlier onset of Parkinson’s disease (PD), and more rapid disease progression especially with “severe”…”
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Prevalence study of epilepsy in Malaysia
Published in Epilepsy research (01-02-2021)“…•This is the first population-based epilepsy prevalence study in Malaysia.•The prevalence of lifetime epilepsy in Malaysia is 7.8 per 1000 persons.•The…”
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12
PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases
Published in Parkinsonism & related disorders (01-10-2020)“…An improved understanding of the genetic determinants of Parkinson's disease (PD) in underrepresented populations, and better characterization of…”
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Outcome in chronic inflammatory demyelinating polyneuropathy from a Malaysian centre over sixteen years
Published in Journal of clinical neuroscience (01-04-2018)“…•Long-term outcome among Malaysian CIDP cohort was comparable to published series.•Large majority (83%) of patients had long term stable disease with…”
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Validation of Malay brief screening instrument for ascertainment of epilepsy
Published in Epilepsy & behavior (01-08-2019)“…Prevalence studies of epilepsy in Asia revealed a prevalence ranging from 1.5 to 14.0 per 1000 among Asian populations. However, the prevalence of epilepsy in…”
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15
Conventional and unconventional therapies in typical and atypical chronic inflammatory demyelinating polyneuropathy with different clinical course of progression
Published in Journal of the peripheral nervous system (01-09-2018)“…Intravenous immunoglobulin (IVIG), corticosteroids and therapeutic plasma exchange (TPE) are evidence‐based conventional treatments for chronic inflammatory…”
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PARK16 is associated with PD in the Malaysian population
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-09-2016)“…PARK16 was identified as a risk factor for Parkinson's disease in a Japanese cohort; however, subsequent studies in the other populations including the…”
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Validation of an informant‐based cognitive screening tool for Parkinson disease
Published in Asia-Pacific psychiatry (01-12-2017)“…Introduction The objective of this study was to establish the psychometric properties of the AD8 Dementia Screening Interview in patients with Parkinson…”
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Lack of association between the LRRK2 A419V variant and Asian Parkinson's disease
Published in Annals of the Academy of Medicine, Singapore (01-05-2013)“…The G2385R and R1628P LRRK2 gene variants have been associated with an increased risk of Parkinson's disease (PD) in the Asian population. Recently, a new…”
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Post dengue neurological complication
Published in Malaysian family physician (2015)“…Dengue infection is highly endemic in many tropical countries including Malaysia. However, neurological complications arising from dengue infection is not…”
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Myanmarese Neuropathy: Clinical Description of Acute Peripheral Neuropathy Detected among Myanmarese Refugees in Malaysia
Published in International scholarly research notices (2014)“…Background. Since 2008, we have observed an increasing number of Myanmarese refugees in Malaysia being admitted for acute/subacute onset peripheral neuropathy…”
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