Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Autor: Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma

Publikováno v: npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-5 (2024)

Abstract The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 29

Externí odkaz: https://doaj.org/article/168e33231a6740adb86274bd20fc49b5

Redeemable 'Progressive Supranuclear Palsy' like paraneoplastic presentation in carcinoma breast

Autor: Ajith Cherian, Naveen Kumar Paramasivan, Pranab Karipody Prabhakaran, Divya Kalikavil Puthanveedu

Publikováno v: Annals of Indian Academy of Neurology, Vol 24, Iss 5, Pp 786-788 (2021)

Externí odkaz: https://doaj.org/article/31fab925b31a44f0aaca3ff55a6f245c

Apraxia of Lid Opening in Subthalamic Nucleus Deep Brain Stimulation for Parkinson's Disease—Frequency, Risk Factors and Response to Treatment

Autor: Gangadhara Sarma, Divya Kalikavil Puthanveedu, Krishnakumar Kesavapisharady, Jissa Vinoda Thulaseedharan, Syam Krishnan, Kuldeep Shetty, Asha Kishore

Publikováno v: Mov Disord Clin Pract

BACKGROUND: New‐onset apraxia of lid opening (ALO) is reported to occur in Parkinson's disease (PD) patients following Deep Brain Stimulation (DBS). There are only few systematic studies on this uncommon disorder of eyelid movements. OBJECTIVES: We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1037e8b62cf6d8b62337a22dadabb5
https://doi.org/10.1002/mdc3.13206

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia

Autor: Mohammed Faruq, Renu Kumari, Aditi Joshi, Ajith Cherian, Nishu Tyagi, Mitali Mukerji, Inder Singh, Sunil Shakya, Achal Kumar Srivastava, Ajay Garg, Divya Kalikavil Puthanveedu, Varun Suroliya

Publikováno v: Clinical Genetics. 96:566-574

Over 100 genetically distinct causal known loci for hereditary ataxia phenotype poses a challenge for diagnostic work-up for ataxia patients in a clinically relevant time and precision. In the present study using next-generation sequencing, we have i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dacd7249485a1159083f245c3fe2033
https://doi.org/10.1111/cge.13625

The Dysfunctional Gangway: SZT2 -associated Epilepsy with Thick Corpus Callosum.

Autor: Cherian A; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, Kerala, India., Divya KP; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, Kerala, India., Pavuluri H; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, Kerala, India., Thomas B; Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, Kerala, India.

Publikováno v: Journal of pediatric neurosciences [J Pediatr Neurosci] 2021 Oct-Dec; Vol. 16 (4), pp. 289-292. Date of Electronic Publication: 2021 Jul 19.