Publications by authors named "Ann Lucas"

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Real-world evidence study finds no new-onset diabetes or drug-related hyperglycemia in Pompe disease patients treated with avalglucosidase alfa.
Alexandra Dumitriu, Ann Lucas, Raffaella Colzani

Mol Genet Metab Rep· March 2024

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Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Babi R R Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas

Ann Clin Transl Neurol· November 2023

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Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
Lisa Sniderman King, Yinghong Pan, Babi Ramesh Reddy Nallamilli, Madhuri Hegde, Lakshmanan Jagannathan, Ann Lucas

Mol Genet Metab· May 2023

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Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims.
Xiaoxue Chen, Abiy Agiro, Ann S Martin, Ann M Lucas, Kevin Haynes

BMC Med Res Methodol· August 2019

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Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry.
Leslie Cowen, Maria Mancini, Ann Martin, Ann Lucas, Joanne M Donovan

BMC Neurol· May 2019

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DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Richard T Wang, Florian Barthelemy, Ann S Martin, Emilie D Douine, Ascia Eskin, Ann Lucas

Hum Mutat· September 2018

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Practical Considerations for Using Online Methods to Engage Patients in Guideline Development.
Sean Grant, Glen S Hazlewood, Holly L Peay, Ann Lucas, Ian Coulter

Patient· April 2018

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An Evidence-Based, Community-Engaged Approach to Develop an Interactive Deliberation Tool for Pediatric Neuromuscular Trials.
Rebecca R Moultrie, Megan A Lewis, Ryan S Paquin, Ann Lucas, Jill Jarecki

J Genet Couns· April 2018

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Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials.
Jacob J Gissy, Teresa Johnson, Deborah J Fox, Anil Kumar, Emma Ciafaloni, Ann Lucas

Neuromuscul Disord· October 2017

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Engaging Patients and Caregivers Managing Rare Diseases to Improve the Methods of Clinical Guideline Development: A Research Protocol.
Dmitry Khodyakov, Kathi Kinnett, Sean Grant, Ann Lucas, Ann Martin

JMIR Res Protoc· April 2017

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Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.
Lauren Bogue, Holly Peay, Ann Martin, Ann Lucas, Sindhu Ramchandren

Neuromuscul Disord· December 2016

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Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
Jill A Rosenfeld, Blake C Ballif, Ann Lucas, Edward J Spence, Cynthia Powell

PLoS One· August 2009

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