Works matching AU Mcmillan, Hugh J.

Results: 78
    1

    Risk factors associated with prevalent vertebral fractures in Duchenne muscular dystrophy.

    Published in:
    Osteoporosis International, 2023, v. 34, n. 1, p. 147, doi. 10.1007/s00198-022-06578-6
    By:
    • Phung, Kim;
    • McAdam, Laura;
    • Ma, Jinhui;
    • McMillan, Hugh J.;
    • Jackowski, Stefan;
    • Scharke, Maya;
    • Matzinger, Mary-Ann;
    • Shenouda, Nazih;
    • Koujok, Khaldoun;
    • Jaremko, Jacob L.;
    • Smit, Kevin;
    • Walker, Scott;
    • Hartigan, Colleen;
    • Khan, Nasrin;
    • Konji, Victor N.;
    • MacLeay, Lynn;
    • Page, Marika;
    • Sykes, Elizabeth;
    • Robinson, Marie-Eve;
    • Alos, Nathalie
    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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    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

    Published in:
    2018
    By:
    • McMillan, Hugh J;
    • Telegrafi, Aida;
    • Singleton, Amanda;
    • Cho, Megan T;
    • Lelli, Daniel;
    • Lynn, Francis C;
    • Griffin, Julie;
    • Asamoah, Alexander;
    • Rinne, Tuula;
    • Erasmus, Corrie E;
    • Koolen, David A;
    • Haaxma, Charlotte A;
    • Keren, Boris;
    • Doummar, Diane;
    • Mignot, Cyril;
    • Thompson, Islay;
    • Velsher, Lea;
    • Dehghani, Mohammadreza;
    • Vahidi Mehrjardi, Mohammad Yahya;
    • Maroofian, Reza
    Publication type:
    journal 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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    Quick, Effective Screening Tasks Identify Children With Medical Conditions or Disabilities Needing Physical Literacy Support.

    Published in:
    Pediatric Exercise Science, 2025, v. 37, n. 1, p. 18, doi. 10.1123/pes.2023-0130
    By:
    • Longmuir, Patricia E.;
    • Chubbs Payne, Adam;
    • Beshara, Natalie;
    • Brandão, Leonardo R.;
    • Wright, F. Virginia;
    • Pohl, Daniela;
    • Katz, Sherri Lynne;
    • McCormick, Anna;
    • De Laat, Denise;
    • Klaassen, Robert J.;
    • Johnston, Donna L.;
    • Lougheed, Jane;
    • Roth, Johannes;
    • McMillan, Hugh J.;
    • Venkateswaran, Sunita;
    • Sell, Erick;
    • Doja, Asif;
    • Boafo, Addo;
    • Macartney, Gail;
    • Matheson, Katherine
    Publication type:
    Article
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    The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy.

    Published in:
    Neurology & Therapy, 2024, v. 13, n. 1, p. 183, doi. 10.1007/s40120-023-00570-w
    By:
    • Muntoni, Francesco;
    • Byrne, Barry J.;
    • McMillan, Hugh J.;
    • Ryan, Monique M.;
    • Wong, Brenda L.;
    • Dukart, Juergen;
    • Bansal, Amita;
    • Cosson, Valerie;
    • Dreghici, Roxana;
    • Guridi, Maitea;
    • Rabbia, Michael;
    • Staunton, Hannah;
    • Tirucherai, Giridhar S.;
    • Yen, Karl;
    • Yuan, Xiling;
    • Wagner, Kathryn R.;
    • the Taldefgrobep Alfa Study Group;
    • Carvajal, Irvith;
    • Chimalakonda, Anjaneya;
    • Gokemeijer, Jochem
    Publication type:
    Article
    17

    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
    18

    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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    Risk Factors Associated with Incident Vertebral Fractures in Steroid-treated Males with Duchenne Muscular Dystrophy.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 536, doi. 10.1210/clinem/dgad435
    By:
    • Phung, Kim;
    • McAdam, Laura;
    • Ma, Jinhui;
    • McMillan, Hugh J;
    • Jackowski, Stefan;
    • Scharke, Maya;
    • Matzinger, Mary-Ann;
    • Shenouda, Nazih;
    • Koujok, Khaldoun;
    • Jaremko, Jacob L;
    • Wilson, Nagwa;
    • Walker, Scott;
    • Hartigan, Colleen;
    • Khan, Nasrin;
    • Page, Marika;
    • Robinson, Marie-Eve;
    • Saleh, David S;
    • Smit, Kevin;
    • Rauch, Frank;
    • Siminoski, Kerry
    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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    Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease.

    Published in:
    Journal of Child Neurology, 2015, v. 30, n. 8, p. 1037, doi. 10.1177/0883073814553272
    By:
    • McMillan, Hugh J.;
    • Humphreys, Peter;
    • Smith, Amanda;
    • Schwartzentruber, Jeremy;
    • Chakraborty, Pranesh;
    • Bulman, Dennis E.;
    • Beaulieu, Chandree L.;
    • Majewski, Jacek;
    • Boycott, Kym M.;
    • Geraghty, Michael T.
    Publication type:
    Article
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    Pediatric sciatic neuropathy associated with neoplasms.

    Published in:
    Muscle & Nerve, 2011, v. 43, n. 2, p. 183, doi. 10.1002/mus.21867
    By:
    • Mcmillan, Hugh J.;
    • Srinivasan, Jayashri;
    • Darras, Basil T.;
    • Ryan, Monique M.;
    • Davis, James;
    • Lidov, Hart G.;
    • Gill, Deepak;
    • Jones, H. Royden
    Publication type:
    Article
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    Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies.

    Published in:
    Canadian Journal of Neurological Sciences, 2025, v. 52, n. 3, p. 543, doi. 10.1017/cjn.2024.319
    By:
    • McMillan, Hugh J.;
    • Gonorazky, Hernan;
    • Campbell, Craig;
    • Chrestian, Nicolas;
    • Crone, Megan;
    • Dowling, James J.;
    • Joyal, Kristina;
    • Kolski, Hanna;
    • Leung, Ed;
    • Mackenzie, Alex;
    • Mah, Jean K.;
    • McAdam, Laura;
    • Nigro, Elisa;
    • Nguyen, Cam-Tu;
    • Oskoui, Maryam;
    • Poulin, Chantal;
    • Sheriko, Jordan;
    • Tarnopolsky, Mark;
    • Vajsar, Jiri;
    • Yaworski, Amanda
    Publication type:
    Article
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    Does E-learning Facilitate Medical Education in Pediatric Neurology?

    Published in:
    Canadian Journal of Neurological Sciences, 2024, v. 51, n. 2, p. 196, doi. 10.1017/cjn.2023.26
    By:
    • Curry, Brittany;
    • Buttle, Sarah;
    • McMillan, Hugh J.;
    • Webster, Richard;
    • Reddy, Deepti;
    • Karir, Aneesh;
    • Spence, Stewart;
    • Mineyko, Aleksandra;
    • Writer, Hilary;
    • MacLean, Heather;
    • Pohl, Daniela
    Publication type:
    Article
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