Publications by authors named "Deepa Krishnakumar"

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, Deepa Krishnakumar

Ann Neurol· April 2025

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Consensus recommendations for the assessment and management of idiopathic intracranial hypertension in children and young people.
Sam Amin, Marie Monaghan, Katharine Forrest, Pooja Harijan, Vishal Mehta, Deepa Krishnakumar

Arch Dis Child· July 2024

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CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.
Nunziata Maio, Rotem Orbach, Irina T Zaharieva, Ana Töpf, Sandra Donkervoort, Deepa Krishnakumar

J Clin Invest· June 2024

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Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
Nunziata Maio, Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Deepa Krishnakumar

medRxiv· December 2023

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How to use lumbar puncture manometry in children.
Jonathon Aa Holland, Jonathan P Funnell, Rhea Mittal, Deepa Krishnakumar

Arch Dis Child Educ Pract Ed· October 2023

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta, Deepa Krishnakumar

Genet Med· January 2023

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Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.
Lydia M Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath

Mol Genet Genomic Med· July 2022

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Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.
Saraswathy Sabanathan, Omar Abdel-Mannan, Kshitij Mankad, Ata Siddiqui, Krishna Das, Deepa Krishnakumar

Ann Clin Transl Neurol· January 2022

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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Catherine Rodger, Elisabetta Flex, Rachel J Allison, Alba Sanchis-Juan, Marcia A Hasenahuer, Deepa Krishnakumar

Am J Hum Genet· December 2020

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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, Katherine A Bosanko, Amy Rowell, Deepa Krishnakumar

Pediatr Neurol· November 2020

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Correlation between the total number of features of paediatric pseudotumour cerebri syndrome and cerebrospinal fluid pressure.
James S McTaggart, Afroditi-Despina Lalou, Nicholas J Higgins, Manali Chitre, Alasdair P J Parker, Deepa Krishnakumar

Childs Nerv Syst· September 2020

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Coupling of CSF and sagittal sinus pressure in adult patients with pseudotumour cerebri.
Afroditi-Despina Lalou, Marek Czosnyka, Zofia H Czosnyka, Deepa Krishnakumar, John D Pickard

Acta Neurochir (Wien)· May 2020

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Sudden onset of lower limb flaccid paralysis.
Francesca Seregni, Saraswathy Sabanathan, Justin Cross, Manali Chitre, Deepa Krishnakumar

Arch Dis Child Educ Pract Ed· April 2020

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Cerebrospinal fluid dynamics in pediatric pseudotumor cerebri syndrome.
Afroditi-Despina Lalou, James S McTaggart, Zofia H Czosnyka, Matthew R Garnett, Deepa Krishnakumar

Childs Nerv Syst· January 2020

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Different stroke(s).
Vivek Mundada, Deepa Krishnakumar, Manali Chitre, Tilak Das

Arch Dis Child Educ Pract Ed· June 2016

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Answers to Epilogue questions.
Vivek Mundada, Deepa Krishnakumar, Manali Chitre, Tilak Das

Arch Dis Child Educ Pract Ed· June 2016

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Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Nichola Z Lax, Charlotte L Alston, Katherine Schon, Soo-Mi Park, Deepa Krishnakumar

J Neuropathol Exp Neurol· July 2015

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Idiopathic intracranial hypertension in childhood: pitfalls in diagnosis.
Deepa Krishnakumar, John D Pickard, Zofia Czosnyka, Louise Allen, Alasdair Parker

Dev Med Child Neurol· August 2014

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Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
Deepa Krishnakumar, Anna Maw, Richard Brown, Sarah Hogg, Jackie Calvin

J Child Neurol· January 2014

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Successful treatment of two paediatric cases of anti-NMDA receptor encephalitis with cyclophosphamide: the need for early aggressive immunotherapy in tumour negative paediatric patients.
Pawan Kashyape, Ellen Taylor, Joanne Ng, Deepa Krishnakumar, Fenella Kirkham

Eur J Paediatr Neurol· January 2012

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The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.
Christopher M Verity, Anne Marie Winstone, Lesley Stellitano, Deepa Krishnakumar, Robert Will

Dev Med Child Neurol· May 2010

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