Publications by authors named "Sandya Tirupathi"

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Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.
Juliane S Müller, Shira Rabinowicz, Irina Zaharieva, Veronica Pini, Vicente A Yépez, Sandya Tirupathi

Neuromuscul Disord· July 2025

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Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Vasantha Gowda, Mark Atherton, Archana Murugan, Laurent Servais, Jennie Sheehan, Sandya Tirupathi

Lancet Reg Health Eur· February 2024

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Risdiplam for the treatment of adults with spinal muscular atrophy: Experience of the Northern Ireland neuromuscular service.
Gavin McCluskey, Siobhan Lamb, Sarah Mason, Grainne NicFhirleinn, Isobel Douglas, Sandya Tirupathi

Muscle Nerve· February 2023

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Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Vasantha Lakshmi Gowda, Miguel Fernandez, Manish Prasad, Anne-Marie Childs, Imelda Hughes, Sandya Tirupathi

Arch Dis Child· February 2022

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Making sense of missense variants in TTN-related congenital myopathies.
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A Fernandez-Garcia, Sandya Tirupathi

Acta Neuropathol· March 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Sandya Tirupathi

J Clin Endocrinol Metab· January 2021

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How to use: creatine kinase.
Tanmoy Chakrabarty, Sandya Tirupathi, Andrew Thompson

Arch Dis Child Educ Pract Ed· June 2020

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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Gillian Rea, Sandya Tirupathi, Jonathan Williams, Penny Clouston, Patrick J Morrison

Cerebellum· February 2020

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Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
Rebecca S Moore, Sandya Tirupathi, Brian Herron, Andrew Sands, Patrick J Morrison

Ulster Med J· September 2017

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Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy.
Jennifer M Bell, Michael D Shields, Janet Watters, Alistair Hamilton, Timothy Beringer, Sandya Tirupathi

Cochrane Database Syst Rev· January 2017

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Sydenham's chorea: not gone but perhaps forgotten.
Miranda Crealey, Nicholas M Allen, David Webb, Anthony Bouldin, Niamh Mc Sweeney, Sandya Tirupathi

Arch Dis Child· December 2015

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Nicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, Raphael Schiffmann, Bernard Brais, Sandya Tirupathi

Neurology· November 2014

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DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
Andrea Klein, Matthew C Pitt, John C McHugh, Erik H Niks, Caroline A Sewry, Sandya Tirupathi

Neuromuscul Disord· November 2013

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Adherence to antiepileptic medicines in children: a multiple-methods assessment involving dried blood spot sampling.
Noraida Mohamed Shah, Ahmed F Hawwa, Jeff S Millership, Paul S Collier, Paul Ho, Sandya Tirupathi

Epilepsia· June 2013

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Analysis of factors influencing admission to intensive care following convulsive status epilepticus in children.
Sandya Tirupathi, Joseph B McMenamin, David W Webb

Seizure· November 2009

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Central hypoventilation syndrome after Haemophilus influenzae type b meningitis and herpes infection.
Sandya Tirupathi, David W Webb, Ethna Phelan, Karina Butler, Joseph B McMenamin

Pediatr Neurol· November 2008

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