Works by Mcmillan, Hugh J.

Results: 78
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    Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

    Published in:
    2023
    By:
    • Saettini, Francesco;
    • Guerra, Fabiola;
    • Fazio, Grazia;
    • Bugarin, Cristina;
    • McMillan, Hugh J.;
    • Ohtake, Akira;
    • Ardissone, Anna;
    • Itoh, Masayuki;
    • Giglio, Sabrina;
    • Cappuccio, Gerarda;
    • Giardino, Giuliana;
    • Romano, Roberta;
    • Quadri, Manuel;
    • Gasperini, Serena;
    • Moratto, Daniele;
    • Chiarini, Marco;
    • Ishiguro, Akira;
    • Fukuhara, Yasuyuki;
    • Hayakawa, Itaru;
    • Okazaki, Yasushi
    Publication type:
    Correction Notice
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    Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2115, doi. 10.1007/s10875-023-01584-7
    By:
    • Saettini, Francesco;
    • Guerra, Fabiola;
    • Fazio, Grazia;
    • Bugarin, Cristina;
    • McMillan, Hugh J;
    • Ohtake, Akira;
    • Ardissone, Anna;
    • Itoh, Masayuki;
    • Giglio, Sabrina;
    • Cappuccio, Gerarda;
    • Giardino, Giuliana;
    • Romano, Roberta;
    • Quadri, Manuel;
    • Gasperini, Serena;
    • Moratto, Daniele;
    • Chiarini, Marco;
    • Akira, Ishiguro;
    • Fukuhara, Yasuyuki;
    • Hayakawa, Itaru;
    • Okazaki, Yasushi
    Publication type:
    Article
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    Canadian Paediatric Neurology Workforce Survey and Consensus Statement.

    Published in:
    Canadian Journal of Neurological Sciences, 2016, v. 43, n. 3, p. 402, doi. 10.1017/cjn.2015.360
    By:
    • Doja, Asif;
    • Orr, Serena L.;
    • McMillan, Hugh J.;
    • Kirton, Adam;
    • Brna, Paula;
    • Esser, Michael;
    • Richard Tang-Wai;
    • Major, Philippe;
    • Poulin, Chantal;
    • Prasad, Narayan;
    • Selby, Kathryn;
    • Weiss, Shelly K.;
    • Ann Yeh, E.;
    • Callen, David J. A.
    Publication type:
    Article
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    The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.

    Published in:
    Paediatrics & Child Health (1205-7088), 2018, v. 23, n. 1, p. 20, doi. 10.1093/pch/pxx125
    By:
    • Yi Wei;
    • McCormick, Anna;
    • MacKenzie, Alex;
    • O'Ferrall, Erin;
    • Venance, Shannon;
    • Mah, Jean K.;
    • Selby, Kathryn;
    • McMillan, Hugh J.;
    • Smith, Garth;
    • Oskoui, Maryam;
    • Hogan, Gillian;
    • McAdam, Laura;
    • Mabaya, Gracia;
    • Hodgkinson, Victoria;
    • Lounsberry, Josh;
    • Korngut, Lawrence;
    • Campbell, Craig
    Publication type:
    Article
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    Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

    Published in:
    2012
    By:
    • McMillan, Hugh J;
    • Worthylake, Thea;
    • Schwartzentruber, Jeremy;
    • Gottlieb, Chloe C;
    • Lawrence, Sarah E;
    • Mackenzie, Alex;
    • Beaulieu, Chandree L;
    • Mooyer, Petra A W;
    • Wanders, Ronald J A;
    • Majewski, Jacek;
    • Bulman, Dennis E;
    • Geraghty, Michael T;
    • Ferdinandusse, Sacha;
    • Boycott, Kym M;
    • FORGE Canada Consortium
    Publication type:
    journal article
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    Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
    By:
    • McMillan, Hugh J.;
    • Worthylake, Thea;
    • Schwartzentruber, Jeremy;
    • Gottlieb, Chloe C.;
    • Lawrence, Sarah E.;
    • MacKenzie, Alex;
    • Beaulieu, Chandree L.;
    • W. Mooyer, Petra A.;
    • A. Wanders, Ronald J.;
    • Majewski, Jacek;
    • Bulman, Dennis E.;
    • Geraghty, Michael T.;
    • Ferdinandusse, Sacha;
    • Boycott, Kym M.
    Publication type:
    Article
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    Characterization of physical literacy in children with chronic medical conditions compared with healthy controls: a cross-sectional study.

    Published in:
    Applied Physiology, Nutrition & Metabolism, 2021, v. 46, n. 9, p. 1073, doi. 10.1139/apnm-2020-0957
    By:
    • Do, Jeffrey;
    • Blais, Angelica;
    • Feldman, Brian;
    • Brandão, Leonardo R.;
    • Lougheed, Jane;
    • Pohl, Daniela;
    • Klaassen, Robert J.;
    • Johnston, Donna L.;
    • De Laat, Denise;
    • Roth, Johannes;
    • Katz, Sherri Lynne;
    • McCormick, Anna;
    • Wright, F. Virginia;
    • Macartney, Gail;
    • McMillan, Hugh J.;
    • Venkateswaran, Sunita;
    • Sell, Erick;
    • Doja, Asif;
    • Matheson, Katherine;
    • Boafo, Addo
    Publication type:
    Article
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    A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape.

    Published in:
    Journal of Neuromuscular Diseases, 2025, v. 12, n. 1, p. 116, doi. 10.1177/22143602241303370
    By:
    • Ward, Leanne M;
    • Weber, David R;
    • Wong, Sze Choong;
    • Apkon, Susan;
    • Clemens, Paula R;
    • Cripe, Linda H;
    • McMillan, Hugh J;
    • Mercuri, Eugenio;
    • Nasomyont, Nat;
    • Phung, Kim;
    • Renthal, Nora E;
    • Rutter, Meilan M;
    • Tian, Cuixia;
    • Wood, Claire L;
    • Zeitler, Philip S;
    • Buccella, Filippo;
    • Kinnett, Kathi;
    • Furlong, Pat
    Publication type:
    Article
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    A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.

    Published in:
    Journal of Neuromuscular Diseases, 2021, v. 8, n. 5, p. 769, doi. 10.3233/JND-210689
    By:
    • Finkel, Richard S.;
    • McDonald, Craig M.;
    • Sweeney, H. Lee;
    • Finanger, Erika;
    • Knierbein, Erin Neil;
    • Wagner, Kathryn R.;
    • Mathews, Katherine D.;
    • Marks, Warren;
    • Statland, Jeffrey;
    • Nance, Jessica;
    • McMillan, Hugh J.;
    • McCullagh, Gary;
    • Cuixia Tian;
    • Ryan, Monique M.;
    • O'Rourke, Declan;
    • Müller-Felber, Wolfgang;
    • Tulinius, Mar;
    • Burnette, W. Bryan;
    • Cam-Tu Nguyen;
    • Vijayakumar, Kayal
    Publication type:
    Article
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    Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1519, doi. 10.1002/acn3.50855
    By:
    • Deguise, Marc‐Olivier;
    • Baranello, Giovanni;
    • Mastella, Chiara;
    • Beauvais, Ariane;
    • Michaud, Jean;
    • Leone, Alessandro;
    • De Amicis, Ramona;
    • Battezzati, Alberto;
    • Dunham, Christopher;
    • Selby, Kathryn;
    • Warman Chardon, Jodi;
    • McMillan, Hugh J.;
    • Huang, Yu‐Ting;
    • Courtney, Natalie L.;
    • Mole, Alannah J.;
    • Kubinski, Sabrina;
    • Claus, Peter;
    • Murray, Lyndsay M.;
    • Bowerman, Melissa;
    • Gillingwater, Thomas H.
    Publication type:
    Article
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