Publications by authors named "Helen Roper"

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IgA nephropathy in a patient with inflammatory bowel disease.
Puneet Chhabra, Muhammad Anas Amjad, Mohammed-Allah Ditta, Helen Roper, Deep Arora

Indian J Gastroenterol· May 2024

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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Michela Guglieri, Kate Bushby, Michael P McDermott, Kimberly A Hart, Rabi Tawil, Helen Roper

JAMA· April 2022

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TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Pinki Munot, Nadine McCrea, Silvia Torelli, Adnan Manzur, Caroline Sewry, Helen Roper

Neuropathol Appl Neurobiol· February 2022

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Preventing Cardiomyopathy in DMD: A Randomized Placebo-Controlled Drug Trial.
John P Bourke, Gillian Watson, Stefan Spinty, Andrew Bryant, Helen Roper

Neurol Clin Pract· October 2021

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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper

Eur J Hum Genet· March 2020

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A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet.
Francesco Muntoni, Bina Tejura, Stefan Spinty, Helen Roper, Imelda Hughes

Clin Pharmacol Drug Dev· October 2019

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Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study.
John P Bourke, Gillian Watson, Francesco Muntoni, Stefan Spinty, Helen Roper

BMJ Open· December 2018

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A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Rebecca A Crow, Kimberly A Hart, Michael P McDermott, Rabi Tawil, William B Martens, Helen Roper

Trials· May 2018

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Helen Roper

Acta Neuropathol· December 2017

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Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors.
Margaret Hufton, Helen Roper

Dev Med Child Neurol· August 2017

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Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.
Michela Guglieri, Kate Bushby, Michael P McDermott, Kimberly A Hart, Rabi Tawil, Helen Roper

Contemp Clin Trials· July 2017

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Helen Roper

Am J Hum Genet· March 2017

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Duchenne muscular dystrophy: the management of scoliosis.
James E Archer, Adrian C Gardner, Helen P Roper, Ashish A Chikermane, Andrew J Tatman

J Spine Surg· September 2016

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Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy.
Valeria Ricotti, Stefan Spinty, Helen Roper, Imelda Hughes, Bina Tejura

PLoS One· August 2016

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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Clare V Logan, György Szabadkai, Jenny A Sharpe, David A Parry, Silvia Torelli, Helen Roper

Nat Genet· February 2014

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MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Enrico Baruffini, Cristina Dallabona, Federica Invernizzi, John W Yarham, Laura Melchionda, Helen P Roper

Hum Mutat· November 2013

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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Ann E Davidson, Fazeel M Siddiqui, Michael A Lopez, Peter Lunt, Heather A Carlson, Helen Roper

Brain· February 2013

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Sebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, Tobias Willer, Shu Yau, Helen Roper

Brain· January 2013

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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Andrea Klein, Suzanne Lillis, Iulia Munteanu, Mariacristina Scoto, Haiyan Zhou, Helen Roper

Hum Mutat· June 2012

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Neuropathy in a human without the PMP22 gene.
Mario Andre Saporta, Istvan Katona, Xuebao Zhang, Helen P Roper, Louise McClelland

Arch Neurol· June 2011

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Swine flu and nephrotic syndrome.
Louise Hill, Jesal Patel, Helen Roper

Arch Dis Child· July 2010

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Regional changes in bone area and bone mineral content in boys with duchenne muscular dystrophy receiving corticosteroid therapy.
Nicola J Crabtree, Helen Roper, Heather McMurchie, Nicholas J Shaw

J Pediatr· March 2010

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A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Cecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, Jihee Kim, Caroline Godfrey, Helen Roper

Brain Pathol· October 2009

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Postexercise muscle glycogen synthesis with combined glucose and fructose ingestion.
Gareth A Wallis, Carl J Hulston, Christopher H Mann, Helen P Roper, Kevin D Tipton

Med Sci Sports Exerc· October 2008

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De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Susana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, Pierre-Yves Jeannet, Jaume Colomer, Helen Roper

Ann Neurol· August 2008

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