V
Veeramani Preethish-Kumar
Researcher at National Institute of Mental Health and Neurosciences
Publications - 65
Citations - 503
Veeramani Preethish-Kumar is an academic researcher from National Institute of Mental Health and Neurosciences. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 10, co-authored 54 publications receiving 302 citations.
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Journal ArticleDOI
Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern.
Kiran Polavarapu,Mahadevappa Manjunath,Veeramani Preethish-Kumar,Deepha Sekar,Seena Vengalil,Priya Treesa Thomas,Talakad N. Sathyaprabha,Rose Dawn Bharath,Atchayaram Nalini +8 more
TL;DR: This specific pattern of muscle involvement in MRI could aid in proceeding for genetic testing when clinical suspicion is high, thus reducing the need for muscle biopsy.
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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort
Seena Vengalil,Veeramani Preethish-Kumar,Kiran Polavarapu,Manjunath Mahadevappa,Deepha Sekar,Meera Purushottam,Priya Treesa Thomas,Saraswathi Nashi,Atchayaram Nalini +8 more
TL;DR: A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India found the reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world.
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MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses
Julien Oury,Yun Liu,Ana Töpf,S. Todorovic,Esthelle Hoedt,Veeramani Preethish-Kumar,Thomas A. Neubert,Weichun Lin,Hanns Lochmüller,Steven J. Burden +9 more
TL;DR: Microtubule actin cross linking factor 1 (MACF1), a scaffolding protein with binding sites for microtubules and actin, is concentrated at neuromuscular synapses, where it binds Rapsyn and serves as a synaptic organizer for MT-associated proteins, EB1 and MAP1b, and the actin-associated protein, Vinculin.
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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
David Owen,Ana Töpf,Veeramani Preethish-Kumar,Paulo José Lorenzoni,Bas Vroling,Rosana Herminia Scola,Elza Dias‐Tosta,Argemiro Geraldo,Kiran Polavarapu,Saraswati Nashi,Dan Cox,Teresinha Evangelista,John Dawson,Rachel Thompson,Jan Senderek,Steven Laurie,Sergi Beltran,Marta Gut,Ivo Gut,Atchayaram Nalini,Hanns Lochmüller +20 more
TL;DR: Four additional patients with MuSK‐CMS are described and Meta‐analysis including previously reported variants revealed an increased likelihood of a severe, respiratory phenotype with null alleles, which refine the phenotype associated with Mu SK‐related CMS.
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A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study.
Mahadevappa Manjunath,P Kiran,Veeramani Preethish-Kumar,Atchayaram Nalini,Ravinder-Jeet Singh,Narayanappa Gayathri +5 more
TL;DR: This is the first study from India and possibly in English literature, comparing the sensitivity and pattern of mutations by both mPCR and MLPA in the same cohort of DMD and validates that 36.4% of MLPA-negative cases were confirmed to have DMD by IHC.