Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Authors: Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi

Source: Global Medical Genetics, Vol 11, Iss 04, Pp 297-303 (2024)

Subject Terms: ORAI-1, ophthalmoparesis, congenital myopathy, congenital fiber-type disproportion, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/cf549a7ea159480b91bed6d9fa940577

Cardiac MRI in Duchenne and Becker Muscular Dystrophy

Authors: Manu Santhappan Girija, Deepak Menon, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Madassu Keertipriya, Mainak Bardhan, Priya Treesa Thomas, Valasani Ravi Kiran, Vikas Nishadham, Arun Sadasivan, Akshata Huddar, Gopi Krishnan Unnikrishnan, Ashita Barthur, Atchayaram Nalini

Source: Annals of Indian Academy of Neurology, Vol 27, Iss 5, Pp 552-557 (2024)

Subject Terms: dystrophinopathy, duchenne muscular dystrophy, becker muscular dystrophy, cardiomyopathy, cardiac mri, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/aian.aian_988_23; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/38c2098435744099ac7e752bf86f779b

Morvan’s Syndrome with Myasthenia Gravis: An Autoimmune or Paraneoplastic Association?

Authors: Deepak Menon, Priyanka Chakkera, Shreyashi Jha, B Pradeep Kumar, JSS Anjusha, M Chandra Sena, Shilpa Rao, Faheem Arshad, Saraswati Nashi, Seena Vengalil, Suvarna Alladi, Atchayaram Nalini

Source: Annals of Indian Academy of Neurology, Vol 27, Iss 5, Pp 612-615 (2024)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/aian.aian_391_24; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/ee5c8c644b834d6fa201fb6d5baab752

Late-Onset Presentation of Spastic Paraplegia 3A (ATL1-HSP) and Its Rare Occurrence with Multiple Spinal Neurofibromas

Authors: Anudeep DS Davuluri, Sangeeth T Ananthasubramanian, Saraswati Nashi, Faheem Arshad, Hansashree Padmanabha, Seena Vengalil, Rohan Mahale, Pooja Mailankody, PR Srijithesh, Girish B Kulkarni, Mathuranath S Pavagada, Suvarna Alladi, Atchayaram Nalini

Source: Annals of Indian Academy of Neurology, Vol 27, Iss 6, Pp 727-729 (2024)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/aian.aian_308_24; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/1ab3f37be6ab44a08440e2cf0c1a587b

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum

Authors: Dipti Baskar, Rita Christopher, Gautham Arunachal, Davuluri Durga Srinivas Anudeep, Ambati Mounika, TA Sangeeth, Kiran Polavarapu, BS Shalini, Tarachand Joshi, Sai Bhargava Sanka, Saraswati Nashi, Pritam Raja, Ravindranadh Mundlamuri Chowdary, Ravi Yadav, Atchayaram Nalini, Seena Vengalil

Source: Global Medical Genetics, Vol 12, Iss 2, Pp 100036- (2025)

Subject Terms: Glutaric aciduria type-1, GCDH gene, Myeloneuropathy, India, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2699940425000372; https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/7e756c3ba16d4510bc97db06508b315f

Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy

Authors: Mainak Bardhan, Kiran Polavarapu, Dipti Baskar, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Valakunja H. Ganaraja, Dinesh Sharma, Karthik Kulanthaivelu, B.N. Nandeesh, Atchayaram Nalini

Source: Global Medical Genetics, Vol 11, Iss 02, Pp 167-174 (2024)

Subject Terms: VMA21-related myopathy, autophagy, muscle MRI, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/6b926896a46547af87bc6f517017fd4d

Anti-glutamic acid decarboxylase antibodies-associated cerebellar ataxia: A treatable ataxia

Authors: Rohan Mahale, Sandeep M, Anita Mahadevan, Nitish Kamble, Vikram Holla, Ravindranadh Mundlamuri, Seena Vengalil, Netravathi M, Atchayaram Nalini, Pramod Kumar Pal, Ravi Yadav

Source: Annals of Movement Disorders, Vol 7, Iss 1, Pp 13-18 (2024)

Subject Terms: anti-gad65 antibodies, cerebellar ataxia, glutamic acid decarboxylase, neoplasm, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://journals.lww.com/aomd/fulltext/2024/07010/anti_glutamic_acid_decarboxylase.3.aspx; https://doaj.org/toc/2590-3446; https://doaj.org/toc/2590-3454

Access URL: https://doaj.org/article/cf577d1688fc4560b2a7014730b47305

Incapacitating pain in Parkinson’s disease: A case report

Authors: Agam Jain, Pritam Raja, Seena Vengalil, Ravindranadh Chowdary, Nalini Atchayaram, Ravi Yadav

Source: Annals of Movement Disorders, Vol 7, Iss 2, Pp 135-137 (2024)

Subject Terms: nociplastic pain, nonmotor, parkinson’s disease, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2590-3446; https://doaj.org/toc/2590-3454

Access URL: https://doaj.org/article/d0e0b91d2a9a40fb845487860c040346

Outpatient Neuropalliative Care Services in a Tertiary Hospital Setting

Authors: Priya T. Thomas, Gargi S. Kumar, Priya Baby, Seena Vengalil, P. R. Srijithesh, B. K. Yamini, M Netravathi, Ravi Yadav, R. Dhanasekhara Pandian, Anupam Gupta, Suvarna Alladi, Atchayaram Nalini

Source: Annals of Indian Academy of Neurology, Vol 27, Iss 3, Pp 332-334 (2024)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/aian.aian_901_23; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/a788a323496240568e846b5450ab7e8f

Qualitative and quantitative electrocardiogram parameters in a large cohort of children with duchenne muscle dystrophy in comparison with age-matched healthy subjects: A study from South India

Authors: Manu S Girija, Deepak Menon, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Madassu Keertipriya, Mainak Bardhan, Priya T Thomas, Valasani R Kiran, Vikas Nishadham, Arun Sadasivan, Akshata Huddar, Gopi K Unnikrishnan, Ganagarajan Inbaraj, Arjun Krishnamurthy, Boris W Kramer, Talakad N Sathyaprabha, Atchayaram Nalini

Source: Annals of Indian Academy of Neurology, Vol 27, Iss 1, Pp 53-57 (2024)

Subject Terms: cardiac screening, duchenne muscular dystrophy, ecg, qt interval, tall r, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2024;volume=27;issue=1;spage=53;epage=57;aulast=Girija; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/5b87316a68604fec83954623ac4d4310

Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual

Authors: Suravi Sasmita Dash, Gautham Arunachal, Madhura Milind Nimonkar, Seena Vengalil, Saraswati Nashi, Ghati K. Chetan, Vijay Kumar Boddu, Atchayaram Nalini, Yogananda S. Markandeya

Source: Stem Cell Research, Vol 76, Iss , Pp 103355- (2024)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124000539; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/4b1dcbb18cf44f4aadb86d38cc600ac6

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Authors: Shamita Sanga, Sudipta Chakraborty, Mainak Bardhan, Kiran Polavarapu, Veeramani Preethish Kumar, Chandrika Bhattacharya, Saraswati Nashi, Seena Vengalil, Thenral S. Geetha, Vedam Ramprasad, Atchayaram Nalini, Analabha Basu, Moulinath Acharya

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/0be9b6eff55145b691c2400e75f2a5cd

Role of Cardiac Magnetic Resonance Imaging in Detection of Subclinical Cardiac Involvement in Patients with Dysferlinopathy - A Prospective Study

Authors: Ashita Barthur, MD, FSCMR, Aneesha Thomas, MD, Shankar KR, MD, Hazif Backer Pallathodi, MD, Jyothirmayi Bommali, MD, Seena Vengalil, MD, Deepak Menon, MD, Sariswati Nashi, MD, Nalini Atchayaram, MD, PhD

Source: Journal of Cardiovascular Magnetic Resonance, Vol 26, Iss , Pp 100831- (2024)

Subject Terms: Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1097664724008226; https://doaj.org/toc/1097-6647

Access URL: https://doaj.org/article/35ef9bb73bd345bda45311db593801c8

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Authors: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

Source: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce

Obstructive hydrocephalus as the solitary manifestation of young onset erdheim–Chester disease

Authors: Shreyashi Jha, Dipti Baskar, B N Nandeesh, Seena Vengalil, Ravindranadh Chaudhary, Atchayaram Nalini, Ravi Yadav, Dwarkanath Srinivas

Source: Annals of Indian Academy of Neurology, Vol 26, Iss 1, Pp 77-80 (2023)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=1;spage=77;epage=80;aulast=Jha; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/a9f70b83ed9f4104b696339b4b703201

PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings

Authors: Manu Santhappan Girija, Ravindu Tiwari, Seena Vengalil, Saraswati Nashi, Veeramani Preethish-Kumar, Kiran Polavarapu, Karthik Kulanthaivelu, Arpana Arbind, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Valasani Ravi Kiran, Tanushree Chawla, Bevinahalli Nandeesh, Chandana Nagaraj, Atchayaram Nalini

Source: Neurological Research and Practice, Vol 4, Iss 1, Pp 1-15 (2022)

Subject Terms: PET-MRI, Inflammatory myositis, MRI, Myositis specific antibody, Myositis associated antibody, Malignancy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2524-3489

Access URL: https://doaj.org/article/531cd64caa444118a8920ea438524c65

Classical Hirayama disease presenting as progressive spastic quadriparesis

Authors: Abel Thomas Oommen, Seena Vengalil, Dipti Baskar, Aneesha Thomas, Karthik Kulanthaivelu, Mainak Bardhan, Sanka Sai Bhargava, Atchayaram Nalini

Source: Annals of Indian Academy of Neurology, Vol 26, Iss 3, Pp 308-310 (2023)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=3;spage=308;epage=310;aulast=Oommen; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/0d6d4726907d450e8ed433c5098cdc42

Adult onset episodic encephalopathy due to citrin deficiency—A case report

Authors: Dipti Baskar, Vathsala Lakshmi, Atchayaram Nalini, Gautham Arunachal, Maya Dhattatraya Bhat, Nandakumar Dalavaikodihalli Nanjaiah, Ravi Yadav, Ravindranadh Chowdary, Pritam Raja, Ambati Mounika, P S Sharath, Seena Vengalil

Source: Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 553-555 (2023)

Subject Terms: citrullinemia, episodic encephalopathy, hyperammonemia, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=4;spage=553;epage=555;aulast=Baskar; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/d791157cf2a043dc9d7ee40265268405

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

Authors: Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini

Source: Global Medical Genetics, Vol 09, Iss 01, Pp 034-041 (2022)

Subject Terms: capn3, muscular dystrophy, lgmdr1, next-generation sequencing, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/75ac141fc6ea457c8322411f21a69471

Mutation spectrum of primary lipid storage myopathies

Authors: Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Gautham Arunachal, Tanushree Chawla, Mainak Bardhan, Dhaarini Mohan, Rita Christopher, Nandeesh Bevinahalli, Karthik Kulanthaivelu, Ichizo Nishino, Mohammad Faruq, Atchayaram Nalini

Source: Annals of Indian Academy of Neurology, Vol 25, Iss 1, Pp 106-113 (2022)

Subject Terms: dropped head syndrome, limb girdle weakness, lipid storage myopathy, mutation spectrum, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=1;spage=106;epage=113;aulast=Vengalil; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/5d749b61d0244865808cf0773e31245c