Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Shilpa D Kulkarni"'
Publikováno v:
Annals of Indian Academy of Neurology, Vol 21, Iss 4, Pp 304-308 (2018)
Introduction: Giant axonal neuropathy (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and geneti
Externí odkaz:
https://doaj.org/article/adb4baa8b1344d6f977c5ff6293a55cc
Publikováno v:
Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 115-118 (2016)
Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxo
Externí odkaz:
https://doaj.org/article/e75c6ffb97944021a638f56c47e45f16
Publikováno v:
Journal of Pediatric Neurosciences
Background: Hydrocephalus (HC) is a common neurological disorder presenting in infancy, with a myriad of etiologies requiring early neurosurgical intervention. Objective: To study neurodevelopmental outcome in patients with HC with shunt surgery done
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9eb1f5a5fde76579dc9d88b8fbd180
http://europepmc.org/articles/PMC8276960
http://europepmc.org/articles/PMC8276960
Publikováno v:
Journal of Neurosciences in Rural Practice (2022)
Introduction Subacute sclerosing panencephalitis (SSPE) is a devastating neurodegenerative disease occurring as a complication of measles infection that is still prevalent in low-resource countries. Clinical and electrographical variability in SSPE c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a83cd53f50c9f9b258d74e317458639
https://pubmed.ncbi.nlm.nih.gov/35694059
https://pubmed.ncbi.nlm.nih.gov/35694059
Autor:
Shilpa D Kulkarni, Tester F. Ashavaid, Ganesh R. Bhagure, Vrajesh Udani, Alpa J. Dherai, Rohan V. Lokhande
Publikováno v:
Indian Journal of Pediatrics. 88:1241-1243
Biogenic amine neurotransmitters metabolism is a multistep pathway with pterin and pyridoxal phosphate (vitamin B6) as cofactors. A defect in biogenic amine and cofactor metabolism and vesicular transporters result in a primary neurotransmitter disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fb87f4447e5b1c31561fe17c9c96ce1
https://doi.org/10.1007/s12098-021-03956-6
https://doi.org/10.1007/s12098-021-03956-6
Publikováno v:
Clinical dysmorphology. 30(4)
CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a97a945da102ce7a9cb2ef32593f591
https://pubmed.ncbi.nlm.nih.gov/34091503
https://pubmed.ncbi.nlm.nih.gov/34091503
Autor:
Rohan V, Lokhande, Alpa J, Dherai, Ganesh R, Bhagure, Vrajesh P, Udani, Shilpa D, Kulkarni, Tester F, Ashavaid
Publikováno v:
Indian journal of pediatrics. 88(12)
Biogenic amine neurotransmitters metabolism is a multistep pathway with pterin and pyridoxal phosphate (vitamin B6) as cofactors. A defect in biogenic amine and cofactor metabolism and vesicular transporters result in a primary neurotransmitter disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::003bf5440a646f40824a69bf29d6543f
https://pubmed.ncbi.nlm.nih.gov/34541626
https://pubmed.ncbi.nlm.nih.gov/34541626
Publikováno v:
Neurology India. 69(2)
Double Inversion Recovery (DIR) is a robust sequence designed to suppress fat and water signals using two 180° inversion pulses to produce prominent gray matter contrast with high spatial resolution. It has proven to be more sensitive in delineating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fbe8d605b968d470e1d9864ada3ba72
https://pubmed.ncbi.nlm.nih.gov/33904462
https://pubmed.ncbi.nlm.nih.gov/33904462
Autor:
TanmaySanjay Jadhav, Shilpa D Kulkarni
Publikováno v:
Journal of pediatric neurosciences. 16(4)
Cerebral palsy (CP), the most common developmental disorder, has many comorbidities (epilepsy and behavioral issues). Sleep disturbances are common complaints of parents and are usually neglected in pediatric populations in comparison to other well-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61717791135eb73029df95fa43155f97
https://pubmed.ncbi.nlm.nih.gov/36531766
https://pubmed.ncbi.nlm.nih.gov/36531766
Publikováno v:
International Journal of Epilepsy. :028-037
Background Pediatric epilepsy is associated with various comorbidities. It is known that children with epilepsy have a compromised health-related quality of life (QOL) and may be affected across physical, psychological, social, and educational domain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::524f55f22d15eb975b419346495a5d59
https://doi.org/10.1055/s-0038-1660774
https://doi.org/10.1055/s-0038-1660774