Zobrazeno 1 - 10
of 508
pro vyhledávání: '"Suvasini, Sharma"'
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/66b919109f5b40219e169a35b732aa94
Autor:
Ashna Kumar, Michelle do Rosario, Shahyan Siddiqui, Divyani Garg, Anju Shukla, Suvasini Sharma
Publikováno v:
Annals of Movement Disorders, Vol 6, Iss 2, Pp 96-99 (2023)
Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cells during
Externí odkaz:
https://doaj.org/article/d6f41654c4e2429d8b44f90d986c9f09
Autor:
Divyani Garg, Suvasini Sharma
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 1, Pp 3-9 (2023)
Subacute sclerosing panencephalitis (SSPE) is a neurodegenerative disorder because of the persistence of mutated measles virus in the central nervous system. Till date, no curative therapy has been established for SSPE. Multiple drugs have been tried
Externí odkaz:
https://doaj.org/article/1d2847443f454f19a73d2bbb111348bc
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 4, Pp 587-600 (2022)
Fever-associated seizures and febrile encephalopathy are common neurological problems in children. Infections of the nervous system are responsible for the majority of cases. However, there is a spectrum of infection-associated and inflammatory condi
Externí odkaz:
https://doaj.org/article/62ec0a6ad7ca4b1fafb3ef3c0cde78d9
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 586-587 (2023)
Externí odkaz:
https://doaj.org/article/efb792ddcd38485c8c83ddeb83ddb6aa
Publikováno v:
Indian Pediatrics Case Reports, Vol 1, Iss 1, Pp 29-32 (2021)
Background: Syndromes in which some manifestations occur later in life are difficult to diagnose in childhood. A systematic clinical approach may prove to be extremely useful. Gorlin syndrome (GS) is characterized by jaw keratocysts and/or basal cell
Externí odkaz:
https://doaj.org/article/c905659cd56f4e91a9fccdacfeee1046
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 1, Pp 15-21 (2021)
Although acquired manganese neurotoxicity has been widely reported since its first description in 1837 and is popularly referred to as “manganism,” inherited disorders of manganese homeostasis have received the first genetic signature as recently
Externí odkaz:
https://doaj.org/article/16eb409827364150bc5dc4348c21ef5d
Autor:
Arushi G Saini, Suvasini Sharma
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 2, Pp 173-177 (2021)
Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 gene. The condition may present as an early-childhood encephalopathy, a
Externí odkaz:
https://doaj.org/article/34c2bb1d767e45dda81e1287c6aa9a8f
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 2, Pp 146-154 (2021)
Psychogenic non-epileptic seizure (PNES) is a common disorder that imitates epileptic seizures and has its etiological roots in psychological distress. Due to its “epileptic” similarity, it is often dealt with not only by mental health profession
Externí odkaz:
https://doaj.org/article/d1502f55cd004e99b7f60bafdae6255a
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 390-395 (2021)
Introduction: Scoring systems to predict outcomes in pediatric status epilepticus (SE) are limited. We sought to assess usefulness of the END-IT score in pediatric SE. Methodology: We conducted a retrospective study at a tertiary hospital in New Delh
Externí odkaz:
https://doaj.org/article/efa29f01eba145b18d1b1e057e9c4f4a