Výsledky vyhledávání - "Shyla T. Govindappa"

Evidence for contribution of compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene for early onset Parkinson’s disease

Autor: Masoom M. Abbas, Sumeet Kumar, Shyla T. Govindappa, Sanjay Pandey, Uday B. Muthane, B.K. Thelma

BackgroundKnowledge of genetic determinants in Parkinson’s disease is still limited. Familial forms of the disease continue to provide a rich resource to capture the genetic spectrum in disease pathogenesis, and this approach has been exploited in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104f38f366eb0933ca23e94d399981e1

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Early Onset Parkinson's disease due to DJ1 mutations: An Indian study

Autor: Madhuri Behari, Masoom M. Abbas, Ramesh C. Juyal, Sumedha Sudhaman, Shyla T. Govindappa, B.K. Thelma, Uday B. Muthane

Publikováno v: Parkinsonism & Related Disorders. 32:20-24

Introduction Early Onset Parkinson's Disease (EOPD) is genetically heterogeneous. PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1 . DJ1 mutations is rare and there is scarce literature on its phenotype and long t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::018638cbbc82a6d4ceec71dff24dc7a8
https://doi.org/10.1016/j.parkreldis.2016.04.024

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Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson's disease among North Indians

Autor: Sohan Punia, Sachi Jayaram, Madhuri Behari, Uday B. Muthane, Mitashree Das, Asish K. Sahani, Shyla T. Govindappa, B.K. Thelma, Bikash K. Mishra, Ramesh C. Juyal

Publikováno v: Pharmacogenetics and Genomics. 20:435-441

Objectives Genetic and non-genetic components are believed to govern the etiology of common complex traits such as Parkinson's disease (PD). In view of the biochemical evidence of depleted dopamine levels in the affected brains and also the most comm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39853d0483acc4210a7918d4c93f9bc8
https://doi.org/10.1097/fpc.0b013e32833ad3bb

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VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians

Autor: Ramesh C. Juyal, Sumedha Sudhaman, Uday B. Muthane, B.K. Thelma, Shyla T. Govindappa, Madhuri Behari

Publikováno v: Neurobiology of aging. 34(10)

Mutations in 2 genes, vacuolar protein sorting homolog 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1), have been recently reported as causal in autosomal dominant Parkinson's disease (PD) among Caucasians. Their contributi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d1241db2f8ae3bb7ddf40732593d244
https://pubmed.ncbi.nlm.nih.gov/23726718

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Leads from xenobiotic metabolism genes for Parkinson's disease among north Indians

Autor: Maninder Dihana, Ramesh C. Juyal, Shyla T. Govindappa, B.K. Thelma, Mitashree Das, Uday B. Muthane, Sohan Punia, Madhuri Behari

Publikováno v: Pharmacogenetics and genomics. 21(12)

OBJECTIVE: Pesticide/neurotoxin/free radical-induced oxidative stress leading to dopaminergic neuronal vulnerability is known to promote sporadic Parkinson's disease (PD). This study investigated the contribution of polymorphisms in genes from drug-m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4026f51ee01d789eee68b169258f82d
https://pubmed.ncbi.nlm.nih.gov/22016051

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Direct costs of managing Parkinson's disease in India: concerns in a developing country

Autor: Dodaballapur K. Subbakrishna, Uday B. Muthane, Mona Ragothaman, Rohini Rattihalli, Shyla T. Govindappa

Publikováno v: Movement disorders : official journal of the Movement Disorder Society. 21(10)

Medicines and surgical interventions improve thequality of life of Parkinson’s disease (PD) patients. Theseare still expensive options and are unaffordable to thoseliving in developing countries. Managing PD in Indians whohave a low annual gross na

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c64dc88e4bc19b37be3d8bb4adf37c
https://pubmed.ncbi.nlm.nih.gov/16874759

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Genetic susceptibility to Parkinson's disease among South and North Indians: I. Role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker

Autor: Sachi Jayaram, Geetika Nainwal, Uday B. Muthane, Madhuri Behari, B.K. Thelma, Pazhayannur V. Swaminath, Sumit Randhir Singh, Ramesh C. Juyal, Mitashree Das, Sohan Punia, Shyla T. Govindappa

Publikováno v: Neurogenetics. 7(4)

The depletion of dopamine levels in the brain due to degeneration of dopaminergic neurons of substantia nigra pars compacta is a hallmark of Parkinson’s disease (PD). The cumulative contribution of genetic variations in genes from the dopaminergic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27ffd8eb614b542445b9f98dc748487
https://pubmed.ncbi.nlm.nih.gov/16816977

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Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients

Autor: Ramesh C. Juyal, Pazhayannur V. Swaminath, Sohan Punia, Sachi Jayaram, B.K. Thelma, Madhuri Behari, Vinay Goyal, Uday B. Muthane, Shyla T. Govindappa

Publikováno v: Neuroscience letters. 409(2)

Recent discovery of pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene in Parkinson's disease (PD) patients in different ethnic groups have raised a hope of diagnostic screening and genetic counseling. We investigated the six most

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfc6fbbcbf94b7a96a16b18ab48605a
https://pubmed.ncbi.nlm.nih.gov/17052850

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