Bibliography for CLNE0022: Skeletal Muscle and Associated Diseases BETA

Ahmed, M., Machado, P. M., Miller, A., Spicer, C., Herbelin, L., He, J., Noel, J., Wang, Y., McVey, A. L., Pasnoor, M., Gallagher, P., Statland, J., Lu, C.-H., Kalmar, B., Brady, S., Sethi, H., Samandouras, G., Parton, M., Holton, J. L., … Greensmith, L. (2016). Targeting protein homeostasis in sporadic inclusion body myositis. Science Translational Medicine, 8(331), 331ra41-331ra41. https://doi.org/10.1126/scitranslmed.aad4583

Amato, A. A., & Greenberg, S. A. (2013). Inflammatory Myopathies. CONTINUUM: Lifelong Learning in Neurology, 19, 1615–1633. https://doi.org/10.1212/01.CON.0000440662.26427.bd

An information leaflet for surgical patients. (1983). Annals of The Royal College of Surgeons of England, 65(4). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2494353/

Atherton, P. J., & Smith, K. (2012a). Muscle protein synthesis in response to nutrition and exercise. The Journal of Physiology, 590(5), 1049–1057. https://doi.org/10.1113/jphysiol.2011.225003

Atherton, P. J., & Smith, K. (2012b). Muscle protein synthesis in response to nutrition and exercise. The Journal of Physiology, 590(5), 1049–1057. https://doi.org/10.1113/jphysiol.2011.225003

Baar, K. (2014a). Using Molecular Biology to Maximize Concurrent Training. Sports Medicine, 44(S2), 117–125. https://doi.org/10.1007/s40279-014-0252-0

Baar, K. (2014b). Using Molecular Biology to Maximize Concurrent Training. Sports Medicine, 44(S2), 117–125. https://doi.org/10.1007/s40279-014-0252-0

Baioni, M. T. C., & Ambiel, C. R. (2010). Spinal muscular atrophy: diagnosis, treatment and future prospects. Jornal de Pediatria, 86(4), 261–270. https://doi.org/10.2223/JPED.1988

Balance and walking involvement in facioscapulohumeral dystrophy: a pilot study on the effects of custom lower limb orthoses - European Journal of Physical and Rehabilitation Medicine 2013 April;49(2):169-78 - Minerva Medica - Journals. (n.d.). https://www.minervamedica.it/en/journals/europa-medicophysica/article.php?cod=R33Y2013N02A0169

Barohn, R. J., Dimachkie, M. M., & Jackson, C. E. (2014). A Pattern Recognition Approach to Patients with a Suspected Myopathy. Neurologic Clinics, 32(3), 569–593. https://doi.org/10.1016/j.ncl.2014.04.008

Berthelsen, M. P., Husu, E., Christensen, S. B., Prahm, K. P., Vissing, J., & Jensen, B. R. (2014). Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscular Disorders, 24(6), 492–498. https://doi.org/10.1016/j.nmd.2014.03.001

Boldrin, L., & Morgan, J. E. (2007). Activating muscle stem cells: therapeutic potential in muscle diseases. Current Opinion in Neurology, 20(5), 577–582. https://doi.org/10.1097/WCO.0b013e3282ef5919

Boldrin, L., Zammit, P. S., & Morgan, J. E. (2015). Satellite cells from dystrophic muscle retain regenerative capacity. Stem Cell Research, 14(1), 20–29. https://doi.org/10.1016/j.scr.2014.10.007

Briggs, D., & Morgan, J. E. (2013). Recent progress in satellite cell/myoblast engraftment - relevance for therapy. FEBS Journal, 280(17), 4281–4293. https://doi.org/10.1111/febs.12273

Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., Poysky, J., Shapiro, F., Tomezsko, J., & Constantin, C. (2010a). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology, 9(1), 77–93. https://doi.org/10.1016/S1474-4422(09)70271-6

Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., Poysky, J., Shapiro, F., Tomezsko, J., & Constantin, C. (2010b). Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. The Lancet Neurology, 9(2), 177–189. https://doi.org/10.1016/S1474-4422(09)70272-8

Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., Connolly, A. M., Day, J. W., Flanigan, K. M., Goemans, N., Jones, K. J., Mercuri, E., Quinlivan, R., Renfroe, J. B., Russman, B., Ryan, M. M., Tulinius, M., Voit, T., Moore, S. A., … Mcdonald, C. M. (2014). Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle & Nerve, 50(4), 477–487. https://doi.org/10.1002/mus.24332

By:Gordon, AM (Gordon, AM); Homsher, E (Homsher, E); Regnier, M (Regnier, M). (2000). Regulation of contraction in striated muscle. PHYSIOLOGICAL REVIEWS    PHYSIOLOGICAL REVIEWS, 80(2), 853–924. http://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=13&SID=C49BOGnSGP9s3PqA3ow&page=1&doc=1

By:Jones, SW (Jones, SW); Hill, RJ (Hill, RJ); Krasney, PA (Krasney, PA); O’Conner, B (O’Conner, B); Peirce, N (Peirce, N); Greenhaff, PL (Greenhaff, PL). (2004). Disuse atrophy and exercise rehabilitation in humans profoundly affects the expression of genes associated with the regulation of skeletal muscle mass. FASEB JOURNAL    FASEB JOURNAL, 18(6). https://doi.org/10.1096/fj.03-1228fje

Carstens, P.-O., & Schmidt, J. (2014). Diagnosis, pathogenesis and treatment of myositis: recent advances. Clinical & Experimental Immunology, 175(3), 349–358. https://doi.org/10.1111/cei.12194

Cirak, S., Arechavala-Gomeza, V., Guglieri, M., Feng, L., Torelli, S., Anthony, K., Abbs, S., Garralda, M. E., Bourke, J., Wells, D. J., Dickson, G., Wood, M. J., Wilton, S. D., Straub, V., Kole, R., Shrewsbury, S. B., Sewry, C., Morgan, J. E., Bushby, K., & Muntoni, F. (2011). Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. The Lancet, 378(9791), 595–605. https://doi.org/10.1016/S0140-6736(11)60756-3

Craig, D. M., Ashcroft, S. P., Belew, M. Y., Stocks, B., Currell, K., Baar, K., & Philp, A. (2015). Utilizing small nutrient compounds as enhancers of exercise-induced mitochondrial biogenesis. Frontiers in Physiology, 6. https://doi.org/10.3389/fphys.2015.00296

Cup, E. H., Pieterse, A. J., ten Broek-Pastoor, J. M., Munneke, M., van Engelen, B. G., Hendricks, H. T., van der Wilt, G. J., & Oostendorp, R. A. (2007). Exercise Therapy and Other Types of Physical Therapy for Patients With Neuromuscular Diseases: A Systematic Review. Archives of Physical Medicine and Rehabilitation, 88(11), 1452–1464. https://doi.org/10.1016/j.apmr.2007.07.024

Dalakas, M. C. (2015). Inflammatory Muscle Diseases. New England Journal of Medicine, 372(18), 1734–1747. https://doi.org/10.1056/NEJMra1402225

Darras, B. T., De Vivo, D. C., & Jones, H. R. (2003). Neuromuscular disorders of infancy, childhood, and adolescence: a clinician’s approach. Butterworth-Heinemann.

Department of Health. (2003). Toolkit for Producing Patient Information, Version 2. Crown copyright. https://www.uea.ac.uk/documents/246046/0/Toolkit+for+producing+patient+information.pdf

Dubowitz, V., Sewry, C. A., & Oldfors, A. (2013). Muscle biopsy: a practical approach (Fourth edition). Saunders Elsevier.

Egner, I. M., Bruusgaard, J. C., Eftestøl, E., & Gundersen, K. (2013). A cellular memory mechanism aids overload hypertrophy in muscle long after an episodic exposure to anabolic steroids. The Journal of Physiology, 591(24), 6221–6230. https://doi.org/10.1113/jphysiol.2013.264457

Feingold, B., Mahle, W. T., Auerbach, S., Clemens, P., Domenighetti, A. A., Jefferies, J. L., Judge, D. P., Lal, A. K., Markham, L. W., Parks, W. J., Tsuda, T., Wang, P. J., & Yoo, S.-J. (2017). Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. Circulation, 136(13). https://doi.org/10.1161/CIR.0000000000000526

Fitts, R. H., Trappe, S. W., Costill, D. L., Gallagher, P. M., Creer, A. C., Colloton, P. A., Peters, J. R., Romatowski, J. G., Bain, J. L., & Riley, D. A. (2010). Prolonged space flight-induced alterations in the structure and function of human skeletal muscle fibres. The Journal of Physiology, 588(18), 3567–3592. https://doi.org/10.1113/jphysiol.2010.188508

Forbes, S. C., Willcocks, R. J., Triplett, W. T., Rooney, W. D., Lott, D. J., Wang, D.-J., Pollaro, J., Senesac, C. R., Daniels, M. J., Finkel, R. S., Russman, B. S., Byrne, B. J., Finanger, E. L., Tennekoon, G. I., Walter, G. A., Sweeney, H. L., & Vandenborne, K. (2014). Magnetic Resonance Imaging and Spectroscopy Assessment of Lower Extremity Skeletal Muscles in Boys with Duchenne Muscular Dystrophy: A Multicenter Cross Sectional Study. PLoS ONE, 9(9). https://doi.org/10.1371/journal.pone.0106435

Force-velocity properties of human skeletal muscle fibres: myosin heavy chain isoform and temperature dependence. (1996). The Journal of Physiology, 495(Pt 2). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1160815/

Fuglsang-Frederiksen, A. (2006). The role of different EMG methods in evaluating myopathy. Clinical Neurophysiology, 117(6), 1173–1189. https://doi.org/10.1016/j.clinph.2005.12.018

Garner, M., Ning, Z., & Francis, J. (2012). A framework for the evaluation of patient information leaflets. Health Expectations, 15(3), 283–294. https://doi.org/10.1111/j.1369-7625.2011.00665.x

Glover, G. H., & Schneider, E. (1991). Three-point dixon technique for true water/fat decomposition withB0 inhomogeneity correction. Magnetic Resonance in Medicine, 18(2), 371–383. https://doi.org/10.1002/mrm.1910180211

Goemans, N. M., Tulinius, M., van den Akker, J. T., Burm, B. E., Ekhart, P. F., Heuvelmans, N., Holling, T., Janson, A. A., Platenburg, G. J., Sipkens, J. A., Sitsen, J. M. A., Aartsma-Rus, A., van Ommen, G.-J. B., Buyse, G., Darin, N., Verschuuren, J. J., Campion, G. V., de Kimpe, S. J., & van Deutekom, J. C. (2011). Systemic Administration of PRO051 in Duchenne’s Muscular Dystrophy. New England Journal of Medicine, 364(16), 1513–1522. https://doi.org/10.1056/NEJMoa1011367

Great Britain. Audit Commission for Local Authorities and the National Health Service in England and Wales. (n.d.). What Seems to Be the Matter Communication (National Health Service Report). Stationery Office. https://webarchive.nationalarchives.gov.uk/20150410163038/http://archive.audit-commission.gov.uk/auditcommission/aboutus/publications/pages/national-reports-and-studies-archive.aspx.html

Hardie, D. G., & Sakamoto, K. (2006). AMPK: A Key Sensor of Fuel and Energy Status in Skeletal Muscle. Physiology, 21(1), 48–60. https://doi.org/10.1152/physiol.00044.2005

Harridge, S. D. R., Bottinelli, R., Canepari, M., Pellegrino, M. A., Reggiani, C., Esbjörnsson, M., & Saltin, B. (1996). Whole-muscle and single-fibre contractile properties and myosin heavy chain isoforms in humans. Pflügers Archiv - European Journal of Physiology, 432(5), 913–920. https://doi.org/10.1007/s004240050215

Hawley, J. A., Hargreaves, M., Joyner, M. J., & Zierath, J. R. (2014). Integrative Biology of Exercise. Cell, 159(4), 738–749. https://doi.org/10.1016/j.cell.2014.10.029

Hoffmann, G. F., Zschocke, J., & Nyhan, W. L. (Eds.). (2017). Inherited metabolic diseases: a clinical approach (Second edition). Springer.

Hogrel, J.-Y., Wary, C., Moraux, A., Azzabou, N., Decostre, V., Ollivier, G., Canal, A., Lilien, C., Ledoux, I., Annoussamy, M., Reguiba, N., Gidaro, T., Le Moing, A. G., Cardas, R., Voit, T., Carlier, P. G., & Servais, L. (2016). Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy. Neurology, 86(11), 1022–1030. https://doi.org/10.1212/WNL.0000000000002464

Hoier, B., & Hellsten, Y. (2014). Exercise-Induced Capillary Growth in Human Skeletal Muscle and the Dynamics of VEGF. Microcirculation, 21(4), 301–314. https://doi.org/10.1111/micc.12117

Hollak, C. E. M., & Lachmann, R. (Eds.). (2016a). Inherited Metabolic Disease in Adults (Vol. 1). Oxford University Press. https://doi.org/10.1093/med/9780199972135.001.0001

Hollak, C. E. M., & Lachmann, R. (Eds.). (2016b). Inherited Metabolic Disease in Adults (Vol. 1). Oxford University Press. https://doi.org/10.1093/med/9780199972135.001.0001

Hollingsworth, K. G., de Sousa, P. L., Straub, V., & Carlier, P. G. (2012). Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France. Neuromuscular Disorders, 22, S54–S67. https://doi.org/10.1016/j.nmd.2012.06.005

Hunter, S., White, M., & Thompson, M. (1998). Techniques to Evaluate Elderly Human Muscle Function: A Physiological Basis. The Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 53A(3), B204–B216. https://doi.org/10.1093/gerona/53A.3.B204

Institute of Neurology, Queen Square & National Hospital for Neurology and Neurosurgery (London, England). (2016). Neurology: a Queen Square textbook (C. Clarke, R. Howard, M. Rossor, & S. D. Shorvon, Eds.; Second edition). John Wiley & Sons, Inc. https://onlinelibrary.wiley.com/doi/book/10.1002/9781118486160

Jeppesen, T. D., Schwartz, M., Olsen, D. B., Wibrand, F., Krag, T., Duno, M., Hauerslev, S., & Vissing, J. (2006). Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain, 129(12), 3402–3412. https://doi.org/10.1093/brain/awl149

Jones, D. A., Haan, A. de, & Round, J. M. (2004). Skeletal muscle from molecules to movement: a textbook of muscle physiology for sport, exercise, physiotherapy and medicine. Churchill Livingstone.

Kadi, F. (2008). Cellular and molecular mechanisms responsible for the action of testosterone on human skeletal muscle. A basis for illegal performance enhancement. British Journal of Pharmacology, 154(3), 522–528. https://doi.org/10.1038/bjp.2008.118

Kim, H. K., Serai, S., Lindquist, D., Merrow, A. C., Horn, P. S., Kim, D. H., & Wong, B. L. (2015). Quantitative Skeletal Muscle MRI: Part 2, MR Spectroscopy and T2 Relaxation Time Mapping—Comparison Between Boys With Duchenne Muscular Dystrophy and Healthy Boys. American Journal of Roentgenology, 205(2), W216–W223. https://doi.org/10.2214/AJR.14.13755

Kinali, M., Arechavala-Gomeza, V., Feng, L., Cirak, S., Hunt, D., Adkin, C., Guglieri, M., Ashton, E., Abbs, S., Nihoyannopoulos, P., Garralda, M. E., Rutherford, M., Mcculley, C., Popplewell, L., Graham, I. R., Dickson, G., Wood, M. J., Wells, D. J., Wilton, S. D., … Muntoni, F. (2009). Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. The Lancet Neurology, 8(10), 918–928. https://doi.org/10.1016/S1474-4422(09)70211-X

Machado, P., Brady, S., & Hanna, M. G. (2013). Update in inclusion body myositis. Current Opinion in Rheumatology, 25(6), 763–771. https://doi.org/10.1097/01.bor.0000434671.77891.9a

Machado, P. M., Ahmed, M., Brady, S., Gang, Q., Healy, E., Morrow, J. M., Wallace, A. C., Dewar, L., Ramdharry, G., Parton, M., Holton, J. L., Houlden, H., Greensmith, L., & Hanna, M. G. (2014). Ongoing Developments in Sporadic Inclusion Body Myositis. Current Rheumatology Reports, 16(12). https://doi.org/10.1007/s11926-014-0477-9

Machado, P. M., Dimachkie, M. M., & Barohn, R. J. (2014). Sporadic inclusion body myositis. Current Opinion in Neurology, 27(5), 591–598. https://doi.org/10.1097/WCO.0000000000000129

Marcotte, G. R., West, D. W. D., & Baar, K. (2015). The Molecular Basis for Load-Induced Skeletal Muscle Hypertrophy. Calcified Tissue International, 96(3), 196–210. https://doi.org/10.1007/s00223-014-9925-9

Matthews, E., & Hanna, M. G. (2014). Skeletal muscle channelopathies. In D. Hilton-Jones & M. R. Turner (Eds.), Oxford Textbook of Neuromuscular Disorders (pp. 316–325). Oxford University Press. https://doi.org/10.1093/med/9780199698073.003.0031

Mendell, J. R., Goemans, N., Lowes, L. P., Alfano, L. N., Berry, K., Shao, J., Kaye, E. M., & Mercuri, E. (2016). Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Annals of Neurology, 79(2), 257–271. https://doi.org/10.1002/ana.24555

Mendell, J. R., Rodino-Klapac, L. R., Sahenk, Z., Roush, K., Bird, L., Lowes, L. P., Alfano, L., Gomez, A. M., Lewis, S., Kota, J., Malik, V., Shontz, K., Walker, C. M., Flanigan, K. M., Corridore, M., Kean, J. R., Allen, H. D., Shilling, C., Melia, K. R., … Kaye, E. M. (2013). Eteplirsen for the treatment of Duchenne muscular dystrophy. Annals of Neurology, 74(5), 637–647. https://doi.org/10.1002/ana.23982

Mercuri, E., Bertini, E., & Iannaccone, S. T. (2012). Childhood spinal muscular atrophy: controversies and challenges. The Lancet Neurology, 11(5), 443–452. https://doi.org/10.1016/S1474-4422(12)70061-3

Miguel A Martín. (2014). Glycogen Storage Disease Type V. Gene Reviews. https://www.ncbi.nlm.nih.gov/books/NBK1344/

Muntoni, F., Torelli, S., & Ferlini, A. (2003). Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology, 2(12), 731–740. https://doi.org/10.1016/S1474-4422(03)00585-4

Nancy D Leslie. (2018). Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Gene Reviews. https://www.ncbi.nlm.nih.gov/books/NBK6816/

Nancy Leslie. (2017). Pompe Disease. Gene Reviews. https://www.ncbi.nlm.nih.gov/books/NBK1261/

Needham, M., & Mastaglia, F. L. (2016). Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis and treatment. Clinical Neurophysiology, 127(3), 1764–1773. https://doi.org/10.1016/j.clinph.2015.12.011

Neuromuscular Disease Center. (n.d.). https://neuromuscular.wustl.edu/

Neuropathology and Applied Neurobiology. (n.d.). Volume 43, Issue 1. https://onlinelibrary.wiley.com/toc/13652990/2017/43/1

O’Brien, T. D., Reeves, N. D., Baltzopoulos, V., Jones, D. A., & Maganaris, C. N. (2010). In vivo measurements of muscle specific tension in adults and children. Experimental Physiology, 95(1), 202–210. https://doi.org/10.1113/expphysiol.2009.048967

Olivé, M., Kley, R. A., & Goldfarb, L. G. (2013). Myofibrillar myopathies. Current Opinion in Neurology, 26(5), 527–535. https://doi.org/10.1097/WCO.0b013e328364d6b1

Olpin, S. E., Murphy, E., Kirk, R. J., Taylor, R. W., & Quinlivan, R. (2015). The investigation and management of metabolic myopathies. Journal of Clinical Pathology, 68(6), 410–417. https://doi.org/10.1136/jclinpath-2014-202808

Ørngreen, M. C., & Vissing, J. (2017). Treatment Opportunities in Patients With Metabolic Myopathies. Current Treatment Options in Neurology, 19(11). https://doi.org/10.1007/s11940-017-0473-2

Paganoni, S., & Amato, A. (2013). Electrodiagnostic Evaluation of Myopathies. Physical Medicine and Rehabilitation Clinics of North America, 24(1), 193–207. https://doi.org/10.1016/j.pmr.2012.08.017

Prescription information leaflets: a pilot study in general practice. (1983). British Medical Journal (Clinical Research Ed.), 287(6400). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1549423/

Puthucheary, Z. A., Rawal, J., McPhail, M., Connolly, B., Ratnayake, G., Chan, P., Hopkinson, N. S., Padhke, R., Dew, T., Sidhu, P. S., Velloso, C., Seymour, J., Agley, C. C., Selby, A., Limb, M., Edwards, L. M., Smith, K., Rowlerson, A., Rennie, M. J., … Montgomery, H. E. (2013). Acute Skeletal Muscle Wasting in Critical Illness. JAMA, 310(15). https://doi.org/10.1001/jama.2013.278481

Rennie, M. J., Wackerhage, H., Spangenburg, E. E., & Booth, F. W. (2004a). Control of the Size of the Human Muscle Mass. Annual Review of Physiology, 66(1), 799–828. https://doi.org/10.1146/annurev.physiol.66.052102.134444

Rennie, M. J., Wackerhage, H., Spangenburg, E. E., & Booth, F. W. (2004b). Control of the Size of the Human Muscle Mass. Annual Review of Physiology, 66(1), 799–828. https://doi.org/10.1146/annurev.physiol.66.052102.134444

Ricotti, V., Ridout, D. A., Scott, E., Quinlivan, R., Robb, S. A., Manzur, A. Y., Muntoni, F., Manzur, A., Muntoni, F., Robb, S., Quinlivan, R., Ricotti, V., Main, M., Bushby, K., Straub, V., Sarkozy, A., Guglieri, M., Strehle, E., Eagle, M., … Miah, A. (2013). Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery & Psychiatry, 84(6), 698–705. https://doi.org/10.1136/jnnp-2012-303902

Ross, J., Benn, A., Jonuschies, J., Boldrin, L., Muntoni, F., Hewitt, J. E., Brown, S. C., & Morgan, J. E. (2012). Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large                              Mouse. STEM CELLS, 30(10), 2330–2341. https://doi.org/10.1002/stem.1197

Rudnik-Schöneborn, S., Hausmanowa-Petrusewicz, I., Borkowska, J., & Zerres, K. (2001). The Predictive Value of Achieved Motor Milestones Assessed in 441 Patients with Infantile Spinal Muscular Atrophy Types II and III. European Neurology, 45(3), 174–181. https://doi.org/10.1159/000052118

Russman, B. S., Buncher, C. R., White, M., Samaha, F. J., & Iannaccone, S. T. (1996). Function changes in spinal muscular atrophy II and III. Neurology, 47(4), 973–976. https://doi.org/10.1212/WNL.47.4.973

Saudubray, J. M., Baumgartner, M. R., & Walter, J. (Eds.). (2016). Inborn metabolic diseases: diagnosis and treatment (6th edition). Springer.

Schröder, R., & Schoser, B. (2009). Myofibrillar Myopathies: A Clinical and Myopathological Guide. Brain Pathology, 19(3), 483–492. https://doi.org/10.1111/j.1750-3639.2009.00289.x

Shavlakadze, T., & Grounds, M. (2006). Of bears, frogs, meat, mice and men: complexity of factors affecting skeletal muscle mass and fat. BioEssays, 28(10), 994–1009. https://doi.org/10.1002/bies.20479

Sveen, M.-L., Andersen, S. P., Ingelsrud, L. H., Blichter, S., Olsen, N. E., Jønck, S., Krag, T. O., & Vissing, J. (2013). Resistance training in patients with limb-girdle and becker muscular dystrophies. Muscle & Nerve, 47(2), 163–169. https://doi.org/10.1002/mus.23491

Thomas Wieser. (2017). Carnitine Palmitoyltransferase II Deficiency. Gene Reviews. https://www.ncbi.nlm.nih.gov/books/NBK1253/

Velloso, C. P. (2008). Regulation of muscle mass by growth hormone and IGF-I. British Journal of Pharmacology, 154(3), 557–568. https://doi.org/10.1038/bjp.2008.153

Voet, N. B., van der Kooi, E. L., Riphagen, I. I., Lindeman, E., van Engelen, B. G., & Geurts, A. C. (2013). Strength training and aerobic exercise training for muscle disease. Cochrane Database of Systematic Reviews. https://doi.org/10.1002/14651858.CD003907.pub4

Wang, C. H., Finkel, R. S., Bertini, E. S., Schroth, M., Simonds, A., Wong, B., Aloysius, A., Morrison, L., Main, M., Crawford, T. O., & Trela, A. (2007). Consensus Statement for Standard of Care in Spinal Muscular Atrophy. Journal of Child Neurology, 22(8), 1027–1049. https://doi.org/10.1177/0883073807305788

Wattjes, M. P., & Fischer, D. (2013). Neuromuscular imaging. Springer. http://ucl.alma.exlibrisgroup.com/view/action/uresolver.do?operation=resolveService&package_service_id=3320980190004761&institutionId=4761&customerId=4760

Wiggs, M. P. (2015). Can endurance exercise preconditioning prevention disuse muscle atrophy? Frontiers in Physiology, 6. https://doi.org/10.3389/fphys.2015.00063

Willcocks, R. J., Rooney, W. D., Triplett, W. T., Forbes, S. C., Lott, D. J., Senesac, C. R., Daniels, M. J., Wang, D.-J., Harrington, A. T., Tennekoon, G. I., Russman, B. S., Finanger, E. L., Byrne, B. J., Finkel, R. S., Walter, G. A., Sweeney, H. L., & Vandenborne, K. (2016). Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Annals of Neurology, 79(4), 535–547. https://doi.org/10.1002/ana.24599

Zammit, P. S., Golding, J. P., Nagata, Y., Hudon, V., Partridge, T. A., & Beauchamp, J. R. (2004). Muscle satellite cells adopt divergent fates. The Journal of Cell Biology, 166(3), 347–357. https://doi.org/10.1083/jcb.200312007