Works by Mcmillan, Hugh J.

Results: 78

Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital.

Published in:

Child's Nervous System, 2021, v. 37, n. 4, p. 1229, doi. 10.1007/s00381-020-04995-8

By:

Yaworski, Amanda;
Koujok, Khaldoun;
Cheung, Kevin;
Ying, Yvonne;
McMillan, Hugh J.

Publication type:

Article

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

Brachial Plexopathy and Nonaccidental Injury: Role of the Neurologist.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 5, p. 620, doi. 10.1177/0883073809359808

By:

McMillan, Hugh J.;
Yang, Michele;
Jones, H. Royden

Publication type:

Article

Respiratory failure in a patient with VACTERL association and concomitant spinal muscular atrophy.

Published in:

Pediatric Pulmonology, 2023, v. 58, n. 11, p. 3314, doi. 10.1002/ppul.26657

By:

Buttle, Sarah Grace;
McMillan, Hugh J.;
Davila, Jorge;
Bokhaut, Julia;
Kovesi, Thomas;
Katz, Sherri L.;
Ersu, Refika

Publication type:

Article

Understanding the experiences of lung volume recruitment among boys with Duchenne muscular dystrophy: A multicenter qualitative study.

Published in:

Pediatric Pulmonology, 2023, v. 58, n. 1, p. 46, doi. 10.1002/ppul.26154

By:

Katz, Sherri L.;
Blinder, Henrietta;
Newhook, Dennis;
BMUS, Leana Azerrad;
Nicholls, Stuart;
McMillan, Hugh J.;
Mah, Jean K.;
Campbell, Craig;
McAdam, Laura C.;
Zielinski, David;
Toupin‐April, Karine;
Momoli, Franco;
McKim, Douglas A.

Publication type:

Article

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

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

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

NTRK1 -related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test.

Published in:

Child Neurology Open, 2022, p. 1, doi. 10.1177/2329048X221108826

By:

Mirchi, Amytice;
Richer, Julie;
Oskoui, Maryam;
McMillan, Hugh J.

Publication type:

Article

NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test.

Published in:

Child Neurology Open, 2022, v. 9, p. 1, doi. 10.1177/2329048X221108826

By:

Mirchi, Amytice;
Richer, Julie;
Oskoui, Maryam;
McMillan, Hugh J.

Publication type:

Article

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211031059

By:

Weiman, Daniel I.;
Gillespie, Meredith K.;
Hartley, Taila;
Osmond, Matthew;
Ito, Yoko;
Boycott, Kym M.;
Kernohan, Kristin D.;
Lines, Matthew;
McMillan, Hugh J.

Publication type:

Article

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211031059

By:

Weiman, Daniel I.;
Gillespie, Meredith K.;
Hartley, Taila;
Osmond, Matthew;
Ito, Yoko;
Boycott, Kym M.;
Kernohan, Kristin D.;
Lines, Matthew;
McMillan, Hugh J.

Publication type:

Article

Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Published in:

Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048X20934914

By:

Thulasirajah, Salini;
Michaud, Jean;
Doja, Asif;
McMillan, Hugh J.

Publication type:

Article

Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Published in:

Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048X20934914

By:

Thulasirajah, Salini;
Michaud, Jean;
Doja, Asif;
McMillan, Hugh J.

Publication type:

Article

Worster-Drought Syndrome Associated With LINS Mutations.

Published in:

Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18791083

By:

McMillan, Hugh J.;
Holahan, Anne-Lise;
Richer, Julie

Publication type:

Article

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

Cranial nerve hypertrophy in pediatric chronic inflammatory demyelinating polyradiculoneuropathy.

Published in:

Pediatric Radiology, 2010, v. 40, p. 176, doi. 10.1007/s00247-010-1859-4

By:

McMillan, Hugh J.;
Miller, Elka

Publication type:

Article

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63944

By:

Del Gobbo, Giulia F.;
Wang, Xueqi;
MacDonald, Stella K.;
Liang, Yijing;
McMillan, Hugh J.;
Lemire, Gabrielle;
Boycott, Kym M.

Publication type:

Article

Further characterization of CEP85L‐associated lissencephaly type 10: Report of a three‐generation family and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2878, doi. 10.1002/ajmg.a.63380

By:

Leduc‐Pessah, Heather;
White‐Brown, Alexandre;
Miller, Elka;
McMillan, Hugh J.;
Boycott, Kym M.

Publication type:

Article

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-36

By:

McMillan, Hugh J.;
Schwartzentruber, Jeremy;
Smith, Amanda;
Suzie Lee;
Chakraborty, Pranesh;
Bulman, Dennis E.;
Beaulieu, Chandree L.;
Majewski, Jacek;
Boycott, Kym M.;
Geraghty, Michael T.

Publication type:

Article

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

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.

Published in:

Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00077

By:

Elia, Nathaniel;
Nault, Trystan;
McMillan, Hugh J.;
Graham, Gail E.;
Huang, Lijia;
Cannon, Stephen C.

Publication type:

Article

Pannexin 1 dysregulation in Duchenne muscular dystrophy and its exacerbation of dystrophic features in mdx mice.

Published in:

Skeletal Muscle, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13395-024-00340-8

By:

Freeman, Emily;
Langlois, Stéphanie;
Leyba, Marcos F.;
Ammar, Tarek;
Léger, Zacharie;
McMillan, Hugh J.;
Renaud, Jean-Marc;
Jasmin, Bernard J.;
Cowan, Kyle N.

Publication type:

Article

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

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

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

Enhancing human aspects of care with young people with muscular dystrophy: An evaluation of a participatory qualitative study with clinicians.

Published in:

PLoS ONE, 2022, v. 18, n. 2, p. 1, doi. 10.1371/journal.pone.0263956

By:

Setchell, Jenny;
Mosleh, Donya;
McAdam, Laura;
Thille, Patricia;
Abrams, Thomas;
McMillan, Hugh J.;
Mistry, Bhavnita;
Gibson, Barbara E.

Publication type:

Article

Decreased Incidence of Pediatric Neuro-Autoimmune Disorders During COVID-19 Pandemic Restrictions.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 4, p. 241, doi. 10.1177/08830738241293503

By:

Jaremek, Adam;
Chisvin, Rikki;
Kutcher, Stephen A.;
Webster, Richard J.;
Kazoun, Fatima;
Goldbloom, Ellen B.;
McMillan, Hugh J.;
Pohl, Daniela

Publication type:

Article

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

Published in:

Journal of Child Neurology, 2018, v. 33, n. 5, p. 329, doi. 10.1177/0883073818756680

By:

Gillespie, Meredith K.;
Humphreys, Peter;
McMillan, Hugh J.;
Boycott, Kym M.

Publication type:

Article

Disability, Quality of Life, and Pain Coping in Pediatric Migraine: An Observational Study.

Published in:

Journal of Child Neurology, 2017, v. 32, n. 8, p. 717, doi. 10.1177/0883073817702025

By:

Orr, Serena L.;
Christie, Suzanne N.;
Akiki, Salwa;
McMillan, Hugh J.

Publication type:

Article

Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.

Published in:

Expert Opinion on Biological Therapy, 2022, v. 22, n. 9, p. 1075, doi. 10.1080/14712598.2022.2066471

By:

McMillan, Hugh J.;
Proud, Crystal M.;
Farrar, Michelle A.;
Alexander, Ian E.;
Muntoni, Francesco;
Servais, Laurent

Publication type:

Article

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.

Published in:

Channels (19336950), 2019, v. 13, n. 1, p. 153, doi. 10.1080/19336950.2019.1614415

By:

Carter, Melissa T.;
McMillan, Hugh J.;
Tomin, Andriy;
Weiss, Norbert

Publication type:

Article

Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.

Published in:

Applied Health Economics & Health Policy, 2021, v. 19, n. 4, p. 501, doi. 10.1007/s40258-020-00624-2

By:

Landfeldt, Erik;
Pechmann, Astrid;
McMillan, Hugh J.;
Lochmüller, Hanns;
Sejersen, Thomas

Publication type:

Article

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 1, p. 91, doi. 10.1111/dmcn.12334

By:

Venkateswaran, Sunita;
McMillan, Hugh J;
Doja, Asif;
Humphreys, Peter

Publication type:

Article

Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly.

Published in:

2020

By:

Shapira Zaltsberg, Gali;
McMillan, Hugh J.;
Miller, Elka

Publication type:

journal article

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.

Published in:

European Journal of Epidemiology, 2020, v. 35, n. 7, p. 643, doi. 10.1007/s10654-020-00613-8

By:

Landfeldt, Erik;
Thompson, Rachel;
Sejersen, Thomas;
McMillan, Hugh J.;
Kirschner, Janbernd;
Lochmüller, Hanns

Publication type:

Article

Commentary.

Published in:

Journal of Neurosciences in Rural Practice, 2011, v. 2, n. 2, p. 196, doi. 10.1055/s-0039-1696604

By:

McMillan, Hugh J.;
Ventureyra, Enrique C. G.

Publication type:

Article

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 746, doi. 10.1111/cge.13935

By:

McMillan, Hugh J.;
Marshall, Aren E.;
Venkateswaran, Sunita;
Hartley, Taila;
Warman‐Chardon, Jodi;
Ramani, Arun K.;
Marshall, Christian R.;
Michaud, Jean;
Boycott, Kym M.;
Dyment, David A.;
Kernohan, Kristin D.

Publication type:

Article

Sustained clinical benefit following systemic gene replacement therapy in Duchenne muscular dystrophy.

Published in:

Muscle & Nerve, 2024, v. 69, n. 1, p. 4, doi. 10.1002/mus.28000

By:

McMillan, Hugh J.;
Lochmüller, Hanns

Publication type:

Article

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

Published in:

Muscle & Nerve, 2021, v. 64, n. 4, p. 413, doi. 10.1002/mus.27363

By:

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

Publication type:

Article

Biomarkers in Duchenne and Becker muscular dystrophies.

Published in:

2021

By:

McMillan, Hugh J.;
Lochmüller, Hanns

Publication type:

Editorial

Developmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy.

Published in:

2020

By:

Yaworski, Amanda M.;
McMillan, Hugh J.

Publication type:

Editorial

Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.

Published in:

2020

By:

Kang, Peter B.;
McMillan, Hugh J.;
Kuntz, Nancy L.;
Lehky, Tanya J.;
Alter, Katharine E.;
Fitzpatrick, Kevin F.;
El Kosseifi, Charbel;
Quijano‐Roy, Susana;
Quijano-Roy, Susana;
Professional Practice Committee of the American Association of Neuromuscular & Electrodiagnostic Medicine

Publication type:

journal article

Nusinersen: Evidence of sustained clinical improvement and lessened fatigue in older ambulatory patients with spinal muscular atrophy.

Published in:

2020

By:

McMillan, Hugh J.

Publication type:

Editorial

Intermittent glucocorticoid regimes for younger boys with duchenne muscular dystrophy: Balancing efficacy with side effects.

Published in:

2019

By:

McMillan, Hugh J.

Publication type:

Editorial

Mononeuritis multiplex associated with minocycline in an adolescent.

Published in:

2017

By:

McMillan, Hugh J.;
Jansen, Gerard H.;
Koujok, Khaldoun;
Milman, Nataliya;
Duffy, Ciarán M.;
Watanabe Duffy, Karen;
Duffy, Ciarán M

Publication type:

journal article

Myostatin inhibitor ACE-031 treatment of ambulatory boys with Duchenne muscular dystrophy: Results of a randomized, placebo-controlled clinical trial.

Published in:

2017

By:

Campbell, Craig;
McMillan, Hugh J.;
Mah, Jean K.;
Tarnopolsky, Mark;
Selby, Kathryn;
McClure, Ty;
Wilson, Dawn M.;
Sherman, Matthew L.;
Escolar, Diana;
Attie, Kenneth M.

Publication type:

journal article

Congenital muscular dystrophies: New evidence-based guidelines for the diagnosis and management of this evolving group of muscle disorders.

Published in:

2015

By:

McMillan, Hugh J.

Publication type:

Editorial

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

Pediatric monomelic amyotrophy: Evidence for poliomyelitis in vulnerable populations.

Published in:

Muscle & Nerve, 2009, v. 40, n. 5, p. 860, doi. 10.1002/mus.21401

By:

McMillan, Hugh J.;
Darras, Basil T.;
Kang, Peter B.;
Saleh, Firas;
Jones, H. Royden

Publication type:

Article