Hugh McMillan - Dissemin

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All papers authored by Hugh McMillan

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2022 Kevin A. Strauss

ORCID

, Michelle A. Farrar

ORCID

, Francesco Muntoni, Kayoko Saito

ORCID

, Jerry R. Mendell, Laurent Servais

ORCID

, Hugh J. McMillan

ORCID

, Richard S. Finkel

ORCID

, Kathryn J. Swoboda

ORCID

, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone

ORCID

, Jena M. Krueger, Julie A. Parsons and 6 other authors

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

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Kevin A. Strauss

ORCID

, Michelle A. Farrar

ORCID

, Francesco Muntoni, Kayoko Saito

ORCID

, Jerry R. Mendell, Laurent Servais

ORCID

, Hugh J. McMillan

ORCID

, Richard S. Finkel

ORCID

, Kathryn J. Swoboda

ORCID

, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone

ORCID

, Jena M. Krueger, Julie A. Parsons and 5 other authors

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

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Hugh J. McMillan

ORCID

, Crystal M. Proud, Michelle A. Farrar, Ian E. Alexander, Francesco Muntoni, Laurent Servais

ORCID

Onasemnogene abeparvovec for the treatment of spinal muscular atrophy

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Hugh McMillan

ORCID

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

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Sherri L. Katz, Jean K. Mah, Hugh J. McMillan

ORCID

, Craig Campbell, Vid Bijelić, Nick Barrowman, Franco Momoli, Henrietta Blinder

ORCID

, Shawn D. Aaron, Laura C. McAdam, The Thanh Diem Nguyen, Mark Tarnopolsky, David F. Wensley, David Zielinski, Louise Rose and 4 other authors

Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial

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2021 Craig Campbell, Elaine McColl, Michael P. McDermott, William B. Martens, Michela Guglieri, Robert C. Griggs, Volker Straub, Anne-Marie Childs, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Russell J. Butterfield, Iain Horrocks, Helen Roper, Lorenzo Maggi and 32 other authors

Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

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Irit Hochberg, Leigh A. M. Demain, Julie Richer, Kyle Thompson, Jill E. Urquhart, Alessandro Rea, Waheeda Pagarkar, Agustí Rodríguez-Palmero

ORCID

, Agatha Schlüter, Edgard Verdura, Aurora Pujol, Pilar Quijada-Fraile, Albert Amberger, Andrea J. Deutschmann, Sandra Demetz and 25 other authors

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

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Kristin D. Kernohan, Hugh J. McMillan

ORCID

, Ed Yeh, Melanie Lacaria, Michael Kowalski, Craig Campbell, James J. Dowling, Hernan Gonorazky, Janet Marcadier, Mark A. Tarnopolsky

ORCID

, Jiri Vajsar, Alex Mackenzie, Pranesh Chakraborty

Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year

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Richard S. Finkel, Erin Neil Knierbein, Kathryn R. Wagner, Jeffrey Statland, Jessica Nance, Cuixia Tian, Monique M. Ryan, Declan O’Rourke, Wolfgang Müller-Felber, Mar Tulinius, Cam-Tu Nguyen, Kayal Vijayakumar, Han C. Phan, Craig M. McDonald, H. Lee Sweeney and 11 other authors

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

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Jeffrey Do, Angelica Blais, Brian Feldman, Leonardo R. Brandão, Jane Lougheed, Daniela Pohl, Robert J. Klaassen, Donna L. Johnston, Denise De Laat, Johannes Roth, Sherri Lynne Katz, Anna McCormick, F. Virginia Wright, Gail Macartney, Hugh J. McMillan

ORCID

and 6 other authors

Characterization of physical literacy in children with chronic medical conditions compared with healthy controls: a cross-sectional study

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Matt Osmond, Jorge Davila, Pranesh Chakraborty, Hugh J. McMillan

ORCID

, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan

Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature

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Kristina M. Joyal

ORCID

, Jessica V. MacGregor, Lamia M. Hayawi, Richard J. Webster, Hugh J. McMillan

ORCID

Not so Shocking: Electromyography in Pediatrics Remains Feasible and Diagnostically Useful

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Alice Lepelley

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, Erika Della Mina

ORCID

, Erika Van Nieuwenhove

ORCID

ORCID

, Sylvie Fraitag

ORCID

, Gillian I. Rice

ORCID

ORCID

, Marie-Louise Frémond

ORCID

, Mathieu P. Rodero

ORCID

ORCID

ORCID

, Christine Bodemer

ORCID

, Daniela Buhas

ORCID

, Bert Callewaert

ORCID

, Pascale de Lonlay

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and 15 other authors

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

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This paper was not found in any repository, but could be made available legally by the author.

H. J. McMillan

ORCID

ORCID

, T. Cowling, W. Khuu, M. Mayer, J. W. Wu, B. Maturi, K. Klein-Panneton, C. Cabalteja, H. Lochmüller

Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada

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Elizabeth A. Kichula, Crystal M. Proud, Michelle A. Farrar, Jennifer M. Kwon, Kayoko Saito, Isabelle Desguerre, Hugh J. McMillan

ORCID

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy

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Hugh J. McMillan

ORCID

, Hanns Lochmüller

Biomarkers in Duchenne and Becker muscular dystrophies

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Maryam Oskoui

ORCID

, Hernan Gonorazky, Hugh J. McMillan

ORCID

, James J. Dowling, Reshma Amin, Cynthia Gagnon, Kathryn Selby

Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective

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Megan Barry, Dwight Barry, Akash P. Kansagra

ORCID

, Danial Hallam, Michael Abraham, Catherine Amlie-Lefond

ORCID

, Timothy Bernard, Noma Dlaimini, Michael Dowling, Ryan Felling, Eric Grabowski, Rebecca Ichord, Lori Jordan, Adam Kirton, Sarah Lee and 3 other authors

Higher-Quality Data Collection Is Critical to Establish the Safety and Efficacy of Pediatric Mechanical Thrombectomy

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Tamara Dangouloff, Thierry Adoukonou, Omid Aryani, Nina Barisic, Eva Vrščaj, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Laurent Servais, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Damjan Osredkar and 69 other authors

Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go

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Julie A. Jurgens, Mary C. Whitman, Sherin Shaaban, Caroline D. Robson, Brandon M. Pratt, Anne O’Donnell-Luria, Brenda J. Barry, Gabrielle Lemire, Wai-Man Chan, Sarah MacKinnon, Eleina M. England, Christopher Kelly, Hugh J. McMillan

ORCID

, Daniel G. MacArthur, Kym M. Boycott and 2 other authors

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

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