Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Kamal Kishore Pandita"'
Autor:
Arshia Angural, Akshi Spolia, Ankit Mahajan, Vijeshwar Verma, Ankush Sharma, Parvinder Kumar, Manoj Kumar Dhar, Kamal Kishore Pandita, Ekta Rai, Swarkar Sharma
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a general population compared to other diseases. Limited clinical information and a lack of reliable epidemiological data make their timely diagnosis and the
Externí odkaz:
https://doaj.org/article/87bb555b3a464ee0a785138e5058e6f3
Autor:
Arshia Angural, Inderpal Singh, Ankit Mahajan, Pranav Pandoh, Manoj K Dhar, Sanjana Kaul, Vijeshwar Verma, Ekta Rai, Sushil Razdan, Kamal Kishore Pandita, Swarkar Sharma
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
Abstract Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized
Externí odkaz:
https://doaj.org/article/489c4bd2dfb94413be2ad62d69e5e0bb
Publikováno v:
Italian Journal of Medicine, Vol 10, Iss 1, Pp 62-66 (2015)
The original algorithmic approach, as outlined by de Kleijn and colleagues and practiced commonly, envisages performing computed tomography (CT) of chest, abdomen, and pelvis in patients with classical fever of unknown origin (FUO), in whom no potent
Externí odkaz:
https://doaj.org/article/2b1f6e3136a646af8bb0c7edc9a54d6f
Publikováno v:
Egyptian Rheumatology and Rehabilitation, Vol 42, Iss 2, Pp 100-102 (2015)
Polymyalgia rheumatica (PMR) is a connective tissue disorder of unknown aetiology. It is hypothesized that, in a genetically predisposed person, its pathogenesis is triggered by an environmental factor, possibly a hitherto unknown infectious agent. W
Externí odkaz:
https://doaj.org/article/785541a284a54a819ed29946517f0293
Autor:
Ekta Rai, Arshia Angural, Akshi Sapolia, Sushil Razdan, Kamal Kishore Pandita, Swarkar Sharma
Publikováno v:
Canadian Journal of Biotechnology, Vol 1, Iss Special Issue-Supplement, Pp 250-250 (2017)
Rare disorders are poorly understood, most often remain uncharacterized or patients are misdiagnosed due to lack of specific clinical resources. Understanding the basics of inheritance is essential in such cases as it helps to figure out the plausibi
Externí odkaz:
https://doaj.org/article/319f7e3862df49748db2a0601cfb7097
Publikováno v:
Case Reports in Pulmonology, Vol 2014 (2014)
Churg-Strauss syndrome (CSS) is a rare cause of vasculitic neuropathy. Although rare and potentially fatal, Churg-Strauss syndrome (CSS) is easily diagnosable and treatable. The presence of bronchial asthma with peripheral neuropathy in a patient ale
Externí odkaz:
https://doaj.org/article/2283b5c4209546e3ae46f711981e1bb3
Autor:
Diksha Langeh, Swarkar Sharma, Arshia Angural, Kalaiarasan Ponnusamy, Akshi Spolia, Ankush Sharma, Ekta Rai, Mamta Kumari, Kamal Kishore Pandita
We report diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2), a rare, hereditary neurodegenerative disease of childhood, in a four and a half year old girl, the first child of non-consanguineous parents with no family history. Despite extensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e62b42092828f9c1dc891f9347360c6f
https://doi.org/10.20944/preprints202107.0661.v1
https://doi.org/10.20944/preprints202107.0661.v1
Autor:
Itty Sethi, Vinod Singh, Manoj K. Dhar, Indu Sharma, Ekta Rai, Kamal Kishore Pandita, Ankit Mahajan, Gurvinder Singh, Arshia Angural, Varun Sharma, A.J.S. Bhanwer, Swarkar Sharma
Publikováno v:
International Journal of Diabetes in Developing Countries. 38:387-390
Microtubule actin cross-linking factor 1 (MACF1) gene variant rs2296172 has recently been associated with type 2 diabetes (T2D). However, this variant has never been evaluated as such in Indian populations. In the present replication study, we genoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e01798a5126a70f4982db5f8e467f80
https://doi.org/10.1007/s13410-017-0598-6
https://doi.org/10.1007/s13410-017-0598-6
Autor:
Sushil Razdan, Vijeshwar Verma, Manoj K. Dhar, Swarkar Sharma, Ekta Rai, Inderpal Singh, Pranav Pandoh, Arshia Angural, Sanjana Kaul, Ankit Mahajan, Kamal Kishore Pandita
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
Scientific Reports
Scientific Reports
Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by sympto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5100060b357e67bb3aac805030d84de
https://doaj.org/article/489c4bd2dfb94413be2ad62d69e5e0bb
https://doaj.org/article/489c4bd2dfb94413be2ad62d69e5e0bb
Autor:
Indu Sharma, Vinod Singh, Arshia Angural, Pranav Pandoh, Varun Sharma, Swarkar Sharma, Kamal Kishore Pandita, Ekta Rai, Akshi Spolia, Sushil Razdan
Publikováno v:
Mitochondrion. 46
Leigh Syndrome (LS) is a rare, hereditary progressive neurodegenerative disorder of infancy or early childhood associated with a highly variable clinical presentation even among siblings. Further, genetic heterogeneity makes its diagnosis complicated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a767e9d1f9cede77734271dbf1f46577
https://pubmed.ncbi.nlm.nih.gov/29929013
https://pubmed.ncbi.nlm.nih.gov/29929013