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Author/Creator Gowda, Vykuntaraju K.

1. Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance. (5th January 2021)

Authors:
Gayathri, Santhalingam; Gowda, Vykuntaraju K.; Udhayabanu, Tamilarasan; O'Callaghan, Benjamin; Efthymiou, Stephanie; Varalakshmi, Perumal; Benakappa, Naveen; Houlden, Henry; Ashokkumar, Balasubramaniem
Journal:
European journal of neurology
Issue:
Volume 28:Number 3(2021)
Page Start:
945
Record Type:
Journal Article
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2. Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children. Issue 7 (12th August 2022)

Authors:
Garg, Divyani; Yoganathan, Sangeetha; Shamim, Uzma; Mankad, Kshitij; Gulati, Parveen; Bonifati, Vincenzo; Botre, Abhijeet; Kalane, Umesh; Saini, Arushi Gahlot; Sankhyan, Naveen; Srivastava, Kavita; Gowda, Vykuntaraju K.; Juneja, Monica; Kamate, Mahesh; Padmanabha, Hansashree; Panigrahi, Debasis; ...
Journal:
Movement disorders clinical practice
Issue:
Volume 9:Issue 7(2022)
Page Start:
886
Record Type:
Journal Article
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3. KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases. (13th March 2020)

Authors:
Borlot, Felippe; Abushama, Ahmed; Morrison‐Levy, Nadine; Jain, Puneet; Puthenveettil Vinayan, Kollencheri; Abukhalid, Musaad; Aldhalaan, Hesham M.; Almuzaini, Hanin S.; Gulati, Sheffali; Hershkovitz, Tova; Konanki, Ramesh; Lingappa, Lokesh; Luat, Aimee F.; Shafi, Shatha; Tabarki, Brahim; Thomas, ...
Journal:
Epilepsia
Issue:
Volume 61:issue 4(2020)
Page Start:
679
Record Type:
Journal Article
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4. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients. Issue 8 (15th June 2021)

Authors:
Rajeshwari, Mohan; Karthi, Sellamuthu; Singh, Reetu; Efthymiou, Stephanie; Gowda, Vykuntaraju K.; Varalakshmi, Perumal; Srinivasan, Varunvenkat M.; Houlden, Henry; Keller, Markus A.; Rizzo, William B.; Ashokkumar, Balasubramaniem
Journal:
Human mutation
Issue:
Volume 42:Issue 8(2021)
Page Start:
1015
Record Type:
Journal Article
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5. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype. (March 2021)

Authors:
Polavarapu, Kiran; Vengalil, Seena; Preethish-Kumar, Veeramani; Arunachal, Gautham; Nashi, Saraswati; Mohan, Dhaarini; Chawla, Tanushree; Bardhan, Mainak; Nandeesh, Bevinahalli; Gupta, Priya; Gowda, Vykuntaraju K.; Lochmüller, Hanns; Nalini, Atchayaram
Journal:
European journal of paediatric neurology
Issue:
Volume 31(2021)
Page Start:
54
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗