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1
A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
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A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency

Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M.

Indian journal of pediatrics, 2023-08, Vol.90 (8), p.839-839 [Periódico revisado por pares]

New Delhi: Springer India

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2
Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
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Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)

Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M.

Indian journal of pediatrics, 2023-07, Vol.90 (7), p.730-730 [Periódico revisado por pares]

New Delhi: Springer India

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3
The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child
The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child
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The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child

Gowda, Vykuntaraju K ; Reddy, Viveka Santhosh ; Srinivasan, Varunvenkat M ; Vamyanmane, Dhananjaya K

Annals of the Indian Academy of Neurology, 2024-01, Vol.27 (1), p.103-105 [Periódico revisado por pares]

India: Medknow Publications & Media Pvt. Ltd

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4
Fazio-Londe syndrome in siblings from India with different phenotypes
Fazio-Londe syndrome in siblings from India with different phenotypes
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Fazio-Londe syndrome in siblings from India with different phenotypes

Gowda, Vykuntaraju K. ; Udhayabanu, Tamilarasan ; Varalakshmi, Perumal ; Srinivasan, Varunvenkat M. ; Ashokkumar, Balasubramaniem

Brain & development (Tokyo. 1979), 2018-08, Vol.40 (7), p.582-586 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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5
Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
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Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox

Gowda, Vykuntaraju K ; Bylappa, Arun Y ; Kinhal, Uddhav ; Srinivasan, Varunvenkat M ; Vamyanmane, Dhananjaya K

Annals of the Indian Academy of Neurology, 2023-11, Vol.26 (6), p.977-979 [Periódico revisado por pares]

India: Medknow Publications and Media Pvt. Ltd

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6
Rare cause of west syndrome secondary to tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) kunze type due to a novel variant in MAPRE2 gene
Rare cause of west syndrome secondary to tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) kunze type due to a novel variant in MAPRE2 gene
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Rare cause of west syndrome secondary to tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) kunze type due to a novel variant in MAPRE2 gene

Gowda, Vykuntaraju ; Srinivasan, Varunvenkat ; Reddy, Varsha ; Bhat, Maya

Annals of the Indian Academy of Neurology, 2022-03, Vol.25 (2), p.283-285 [Periódico revisado por pares]

India: Wolters Kluwer India Pvt. Ltd

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7
Childhood myocerebrohepatopathy spectrum disorder due to polymerase gamma pathogenic variant
Childhood myocerebrohepatopathy spectrum disorder due to polymerase gamma pathogenic variant
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Childhood myocerebrohepatopathy spectrum disorder due to polymerase gamma pathogenic variant

Gowda, Vykuntaraju ; Srinivasan, Varunvenkat ; Shivappa, Sanjay

Annals of the Indian Academy of Neurology, 2021-11, Vol.24 (6), p.942-943 [Periódico revisado por pares]

India: Wolters Kluwer India Pvt. Ltd

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8
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

Efthymiou, Stephanie ; Novis, Luiz E ; Koutsis, Georgios ; Koniari, Chrysoula ; Maroofian, Reza ; Turchetti, Valentina ; Velonakis, Georgios ; Vasconcellos, Luiz F ; Raskin, Salmo ; Srinivasan, Varunvenkat M ; Pagnamenta, Alistair T ; Arun, Yaramanchanahalli B ; Kinhal, Uddhava V ; Gowda, Vykuntaraju K ; Teive, Helio A G ; Houlden, Henry

Annals of clinical and translational neurology, 2023-10, Vol.10 (10), p.1910-1916 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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9
Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India
Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India
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Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Nagarajan, Balamurugan ; Gowda, Vykuntaraju K. ; Yoganathan, Sangeetha ; Sharawat, Indar Kumar ; Srivastava, Kavita ; Vora, Nitish ; Badheka, Rahul ; Danda, Sumita ; Kalane, Umesh ; Kaur, Anupriya ; Madaan, Priyanka ; Mehta, Sanjiv ; Negi, Sandeep ; Panda, Prateek Kumar ; Rajadhyaksha, Surekha ; Saini, Arushi Gahlot ; Saini, Lokesh ; Shah, Siddharth ; Srinivasan, Varunvenkat M. ; Suthar, Renu ; Thomas, Maya ; Vyas, Sameer ; Sankhyan, Naveen ; Sahu, Jitendra Kumar

Epilepsia open, 2023-12, Vol.8 (4), p.1383-1404 [Periódico revisado por pares]

Hoboken: John Wiley & Sons, Inc

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10
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

Pascual, Patricia ; Tenorio-Castano, Jair ; Mignot, Cyril ; Afenjar, Alexandra ; Arias, Pedro ; Gallego-Zazo, Natalia ; Parra, Alejandro ; Miranda, Lucia ; Cazalla, Mario ; Silván, Cristina ; Heron, Delphine ; Keren, Boris ; Popa, Ioana ; Palomares, María ; Rikeros, Emi ; Ramos, Feliciano J. ; Almoguera, Berta ; Ayuso, Carmen ; Swafiri, Saoud Tahsin ; Barbero, Ana Isabel Sánchez ; Srinivasan, Varunvenkat M. ; Gowda, Vykuntaraju K. ; Morleo, Manuela ; Nigro, Vicenzo ; D’Arrigo, Stefano ; Ciaccio, Claudia ; Martin Mesa, Carmen ; Paumard, Beatriz ; Guillen, Gema ; Anton, Ana Teresa Serrano ; Jimenez, Marta Domínguez ; Seidel, Veronica ; Suárez, Julia ; Cormier-Daire, Valerie ; Consortium, The SOGRI ; Nevado, Julián ; Lapunzina, Pablo

Genes, 2023-08, Vol.14 (9), p.1664 [Periódico revisado por pares]

Basel: MDPI AG

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