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Autor:
Huddar, Akshata, Govindaraj, Periyasamy, Chiplunkar, Shwetha, Deepha, Sekar, Jessiena Ponmalar, J.N., Philip, Mariyamma, Nagappa, Madhu, Narayanappa, Gayathri, Mahadevan, Anita, Sinha, Sanjib, Taly, Arun B., Parayil Sankaran, Bindu
Publikováno v:
In Mitochondrion September 2021 60:170-177
Publikováno v:
Epilepsy & Behavior Reports, Vol 14, Iss , Pp 100357- (2020)
A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on startin
Externí odkaz:
https://doaj.org/article/60376f5246214564bd66779747d0a980
Autor:
Parayil Sankaran Bindu, Periyasamy Govindaraj, Doniparthi V. Seshagiri, Madhu Nagappa, Sumanth Shivaram, Sanjib Sinha, Arun B Taly, Jitender Saini
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 49:708-712
Vanishing white matter disease (VWMD) due to eIF2B mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically co
Autor:
Madhu Nagappa, Arun B Taly, Anita Mahadevan, Mailankody Pooja, Parayil Sankaran Bindu, Yasha T Chickabasaviah, Narayanappa Gayathri, Sanjib Sinha
Publikováno v:
Annals of Indian Academy of Neurology, Vol 18, Iss 4, Pp 445-448 (2015)
Tangier disease is a rare metabolic disorder that causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle-aged gentleman of Tangier disease who was initially dia
Externí odkaz:
https://doaj.org/article/c994c3ca7396439e9652aaf45ef27706
Autor:
Saketh Kapoor, Mohd Hussain Shah, Nivedita Singh, Mohammad Iqbal Rather, Vishwanath Bhat, Sindhura Gopinath, Parayil Sankaran Bindu, Arun B Taly, Sanjib Sinha, Madhu Nagappa, Rose Dawn Bharath, Anita Mahadevan, Gayathri Narayanappa, Yasha T Chickabasaviah, Arun Kumar
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0155605 (2016)
Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there
Externí odkaz:
https://doaj.org/article/c9cd827477da49d1ae272b6a360701a5
Autor:
Madhu Nagappa, Manjula Subbanna, Malathi Anil Kumar, Parayil Sankaran Bindu, Arun B Taly, Venkataram Shivakumar, Pinku Mani Talukdar, Rahul Wahatule, Sundar Periyavan, G.S. Umamaheswara Rao, Debprasad Dutta, Sanjib Sinha, Monojit Debnath
Publikováno v:
ORCID
Microsoft Academic Graph
Europe PubMed Central
Microsoft Academic Graph
Europe PubMed Central
Data indexing the contribution of various immuno-inflammatory components in the cerebrospinal fluid (CSF) towards the pathophysiology of Guillain Barre Syndrome (GBS) are limited. Th17 pathway plays crucial role in many immune mediated disorders of t
Autor:
Parayil Sankaran Bindu
Publikováno v:
The Application of Clinical Genetics. 13:13-24
Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the ALDH3A2 that result in a deficiency of fatty aldehyde dehydrogenase (FALDH). The syndrome has a high prevalence in Sweden where it w
Autor:
Bevinahalli N Nandeesh, Vani Santosh, Gayathri Narayanappa, Anita Mahadevan, T. Chickabasaviah Yasha, Parayil Sankaran Bindu, Karthik Kulanthaivelu
Publikováno v:
Neuropathology. 40:93-98
Stroke is a major cause of mortality and morbidity with a wide variety of etiological risk factors. Cerebral small vessel disease (SVD) is an important cause of stroke in the young with several hereditary disorders affecting these small blood vessels
Autor:
Sumanth, Shivaram, Madhu, Nagappa, Doniparthi Venkata, Seshagiri, Jitender, Saini, Periyasamy, Govindaraj, Sanjib, Sinha, Parayil Sankaran, Bindu, Arun B, Taly
Publikováno v:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 49(5)
Vanishing white matter disease (VWMD) due to