1
Great Britain. Audit Commission for Local Authorities and the National Health Service in England and Wales., What Seems to Be the Matter Communication (National Health Service Report), Stationery Office.
2
Annals of The Royal College of Surgeons of England.
3
Department of Health, 2003.
4
M. Garner, Z. Ning and J. Francis, Health Expectations, 2012, 15, 283–294.
5
British Medical Journal (Clinical research ed.).
6
M. P. Berthelsen, E. Husu, S. B. Christensen, K. P. Prahm, J. Vissing and B. R. Jensen, Neuromuscular Disorders, 2014, 24, 492–498.
7
E. H. Cup, A. J. Pieterse, J. M. ten Broek-Pastoor, M. Munneke, B. G. van Engelen, H. T. Hendricks, G. J. van der Wilt and R. A. Oostendorp, Archives of Physical Medicine and Rehabilitation, 2007, 88, 1452–1464.
8
N. B. Voet, E. L. van der Kooi, I. I. Riphagen, E. Lindeman, B. G. van Engelen and A. C. Geurts, Cochrane Database of Systematic Reviews, , DOI:10.1002/14651858.CD003907.pub4.
9
M.-L. Sveen, S. P. Andersen, L. H. Ingelsrud, S. Blichter, N. E. Olsen, S. Jønck, T. O. Krag and J. Vissing, Muscle & Nerve, 2013, 47, 163–169.
10
T. D. Jeppesen, M. Schwartz, D. B. Olsen, F. Wibrand, T. Krag, M. Duno, S. Hauerslev and J. Vissing, Brain, 2006, 129, 3402–3412.
11
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, https://www.minervamedica.it/en/journals/europa-medicophysica/article.php?cod=R33Y2013N02A0169.
12
Institute of Neurology, Queen Square and National Hospital for Neurology and Neurosurgery (London, England), Neurology: a Queen Square textbook, John Wiley & Sons, Inc, Chichester, West Sussex, UK, Second edition., 2016.
13
Neuromuscular Disease Center, https://neuromuscular.wustl.edu/.
14
R. J. Barohn, M. M. Dimachkie and C. E. Jackson, Neurologic Clinics, 2014, 32, 569–593.
15
D. A. Jones, A. de Haan and J. M. Round, Skeletal muscle from molecules to movement: a textbook of muscle physiology for sport, exercise, physiotherapy and medicine, Churchill Livingstone, Edinburgh, 2004.
16
By:Gordon, AM (Gordon, AM); Homsher, E (Homsher, E); Regnier, M (Regnier, M), PHYSIOLOGICAL REVIEWS    PHYSIOLOGICAL REVIEWS, 2000, 80, 853–924.
17
The Journal of Physiology.
18
S. D. R. Harridge, R. Bottinelli, M. Canepari, M. A. Pellegrino, C. Reggiani, M. Esbjörnsson and B. Saltin, Pflügers Archiv - European Journal of Physiology, 1996, 432, 913–920.
19
S. Hunter, M. White and M. Thompson, The Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 1998, 53A, B204–B216.
20
T. D. O’Brien, N. D. Reeves, V. Baltzopoulos, D. A. Jones and C. N. Maganaris, Experimental Physiology, 2010, 95, 202–210.
21
P. J. Atherton and K. Smith, The Journal of Physiology, 2012, 590, 1049–1057.
22
K. Baar, Sports Medicine, 2014, 44, 117–125.
23
M. J. Rennie, H. Wackerhage, E. E. Spangenburg and F. W. Booth, Annual Review of Physiology, 2004, 66, 799–828.
24
F. Kadi, British Journal of Pharmacology, 2008, 154, 522–528.
25
C. P. Velloso, British Journal of Pharmacology, 2008, 154, 557–568.
26
G. R. Marcotte, D. W. D. West and K. Baar, Calcified Tissue International, 2015, 96, 196–210.
27
I. M. Egner, J. C. Bruusgaard, E. Eftestøl and K. Gundersen, The Journal of Physiology, 2013, 591, 6221–6230.
28
P. J. Atherton and K. Smith, The Journal of Physiology, 2012, 590, 1049–1057.
29
R. H. Fitts, S. W. Trappe, D. L. Costill, P. M. Gallagher, A. C. Creer, P. A. Colloton, J. R. Peters, J. G. Romatowski, J. L. Bain and D. A. Riley, The Journal of Physiology, 2010, 588, 3567–3592.
30
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), FASEB JOURNAL    FASEB JOURNAL, , DOI:10.1096/fj.03-1228fje.
31
M. J. Rennie, H. Wackerhage, E. E. Spangenburg and F. W. Booth, Annual Review of Physiology, 2004, 66, 799–828.
32
T. Shavlakadze and M. Grounds, BioEssays, 2006, 28, 994–1009.
33
Z. A. Puthucheary, J. Rawal, M. McPhail, B. Connolly, G. Ratnayake, P. Chan, N. S. Hopkinson, R. Padhke, T. Dew, P. S. Sidhu, C. Velloso, J. Seymour, C. C. Agley, A. Selby, M. Limb, L. M. Edwards, K. Smith, A. Rowlerson, M. J. Rennie, J. Moxham, S. D. R. Harridge, N. Hart and H. E. Montgomery, JAMA, , DOI:10.1001/jama.2013.278481.
34
M. P. Wiggs, Frontiers in Physiology, , DOI:10.3389/fphys.2015.00063.
35
K. Baar, Sports Medicine, 2014, 44, 117–125.
36
D. M. Craig, S. P. Ashcroft, M. Y. Belew, B. Stocks, K. Currell, K. Baar and A. Philp, Frontiers in Physiology, , DOI:10.3389/fphys.2015.00296.
37
B. Hoier and Y. Hellsten, Microcirculation, 2014, 21, 301–314.
38
D. G. Hardie and K. Sakamoto, Physiology, 2006, 21, 48–60.
39
J. A. Hawley, M. Hargreaves, M. J. Joyner and J. R. Zierath, Cell, 2014, 159, 738–749.
40
D. Briggs and J. E. Morgan, FEBS Journal, 2013, 280, 4281–4293.
41
P. S. Zammit, J. P. Golding, Y. Nagata, V. Hudon, T. A. Partridge and J. R. Beauchamp, The Journal of Cell Biology, 2004, 166, 347–357.
42
L. Boldrin and J. E. Morgan, Current Opinion in Neurology, 2007, 20, 577–582.
43
L. Boldrin, P. S. Zammit and J. E. Morgan, Stem Cell Research, 2015, 14, 20–29.
44
J. Ross, A. Benn, J. Jonuschies, L. Boldrin, F. Muntoni, J. E. Hewitt, S. C. Brown and J. E. Morgan, STEM CELLS, 2012, 30, 2330–2341.
45
46
V. Dubowitz, C. A. Sewry and A. Oldfors, Muscle biopsy: a practical approach, Saunders Elsevier, [Philadelphia, Pa.], Fourth edition., 2013.
47
K. G. Hollingsworth, P. L. de Sousa, V. Straub and P. G. Carlier, Neuromuscular Disorders, 2012, 22, S54–S67.
48
M. P. Wattjes and D. Fischer, Neuromuscular imaging, Springer, New York, 2013.
49
S. C. Forbes, R. J. Willcocks, W. T. Triplett, W. D. Rooney, D. J. Lott, D.-J. Wang, J. Pollaro, C. R. Senesac, M. J. Daniels, R. S. Finkel, B. S. Russman, B. J. Byrne, E. L. Finanger, G. I. Tennekoon, G. A. Walter, H. L. Sweeney and K. Vandenborne, PLoS ONE, , DOI:10.1371/journal.pone.0106435.
50
G. H. Glover and E. Schneider, Magnetic Resonance in Medicine, 1991, 18, 371–383.
51
R. J. Willcocks, W. D. Rooney, W. T. Triplett, S. C. Forbes, D. J. Lott, C. R. Senesac, M. J. Daniels, D.-J. Wang, A. T. Harrington, G. I. Tennekoon, B. S. Russman, E. L. Finanger, B. J. Byrne, R. S. Finkel, G. A. Walter, H. L. Sweeney and K. Vandenborne, Annals of Neurology, 2016, 79, 535–547.
52
J.-Y. Hogrel, C. Wary, A. Moraux, N. Azzabou, V. Decostre, G. Ollivier, A. Canal, C. Lilien, I. Ledoux, M. Annoussamy, N. Reguiba, T. Gidaro, A. G. Le Moing, R. Cardas, T. Voit, P. G. Carlier and L. Servais, Neurology, 2016, 86, 1022–1030.
53
H. K. Kim, S. Serai, D. Lindquist, A. C. Merrow, P. S. Horn, D. H. Kim and B. L. Wong, American Journal of Roentgenology, 2015, 205, W216–W223.
54
F. Muntoni, S. Torelli and A. Ferlini, The Lancet Neurology, 2003, 2, 731–740.
55
K. Bushby, R. Finkel, D. J. Birnkrant, L. E. Case, P. R. Clemens, L. Cripe, A. Kaul, K. Kinnett, C. McDonald, S. Pandya, J. Poysky, F. Shapiro, J. Tomezsko and C. Constantin, The Lancet Neurology, 2010, 9, 77–93.
56
K. Bushby, R. Finkel, D. J. Birnkrant, L. E. Case, P. R. Clemens, L. Cripe, A. Kaul, K. Kinnett, C. McDonald, S. Pandya, J. Poysky, F. Shapiro, J. Tomezsko and C. Constantin, The Lancet Neurology, 2010, 9, 177–189.
57
V. Ricotti, D. A. Ridout, E. Scott, R. Quinlivan, S. A. Robb, A. Y. Manzur, F. Muntoni, A. Manzur, F. Muntoni, S. Robb, R. Quinlivan, V. Ricotti, M. Main, K. Bushby, V. Straub, A. Sarkozy, M. Guglieri, E. Strehle, M. Eagle, A. Mayhew, H. Roper, H. McMurchie, A. Childs, K. Pysden, L. Pallant, S. Spinty, G. Peachey, A. Shillington, E. Wraige, H. Jungbluth, J. Sheehan, R. Spahr, I. Hughes, E. Bateman, C. Cammiss, T. Willis, L. Groves, N. Emery, P. Baxter, M. Senior, L. Hartley, B. Parsons, A. Majumdar, L. Jenkins, K. Naismith, A. Keddie, I. Horrocks, M. Di Marco, G. Chow and A. Miah, Journal of Neurology, Neurosurgery & Psychiatry, 2013, 84, 698–705.
58
N. M. Goemans, M. Tulinius, J. T. van den Akker, B. E. Burm, P. F. Ekhart, N. Heuvelmans, T. Holling, A. A. Janson, G. J. Platenburg, J. A. Sipkens, J. M. A. Sitsen, A. Aartsma-Rus, G.-J. B. van Ommen, G. Buyse, N. Darin, J. J. Verschuuren, G. V. Campion, S. J. de Kimpe and J. C. van Deutekom, New England Journal of Medicine, 2011, 364, 1513–1522.
59
J. R. Mendell, L. R. Rodino-Klapac, Z. Sahenk, K. Roush, L. Bird, L. P. Lowes, L. Alfano, A. M. Gomez, S. Lewis, J. Kota, V. Malik, K. Shontz, C. M. Walker, K. M. Flanigan, M. Corridore, J. R. Kean, H. D. Allen, C. Shilling, K. R. Melia, P. Sazani, J. B. Saoud and E. M. Kaye, Annals of Neurology, 2013, 74, 637–647.
60
J. R. Mendell, N. Goemans, L. P. Lowes, L. N. Alfano, K. Berry, J. Shao, E. M. Kaye and E. Mercuri, Annals of Neurology, 2016, 79, 257–271.
61
M. Kinali, V. Arechavala-Gomeza, L. Feng, S. Cirak, D. Hunt, C. Adkin, M. Guglieri, E. Ashton, S. Abbs, P. Nihoyannopoulos, M. E. Garralda, M. Rutherford, C. Mcculley, L. Popplewell, I. R. Graham, G. Dickson, M. J. Wood, D. J. Wells, S. D. Wilton, R. Kole, V. Straub, K. Bushby, C. Sewry, J. E. Morgan and F. Muntoni, The Lancet Neurology, 2009, 8, 918–928.
62
S. Cirak, V. Arechavala-Gomeza, M. Guglieri, L. Feng, S. Torelli, K. Anthony, S. Abbs, M. E. Garralda, J. Bourke, D. J. Wells, G. Dickson, M. J. Wood, S. D. Wilton, V. Straub, R. Kole, S. B. Shrewsbury, C. Sewry, J. E. Morgan, K. Bushby and F. Muntoni, The Lancet, 2011, 378, 595–605.
63
K. Bushby, R. Finkel, B. Wong, R. Barohn, C. Campbell, G. P. Comi, A. M. Connolly, J. W. Day, K. M. Flanigan, N. Goemans, K. J. Jones, E. Mercuri, R. Quinlivan, J. B. Renfroe, B. Russman, M. M. Ryan, M. Tulinius, T. Voit, S. A. Moore, H. Lee Sweeney, R. T. Abresch, K. L. Coleman, M. Eagle, J. Florence, E. Gappmaier, A. M. Glanzman, E. Henricson, J. Barth, G. L. Elfring, A. Reha, R. J. Spiegel, M. W. O’donnell, S. W. Peltz and C. M. Mcdonald, Muscle & Nerve, 2014, 50, 477–487.
64
S. Paganoni and A. Amato, Physical Medicine and Rehabilitation Clinics of North America, 2013, 24, 193–207.
65
A. Fuglsang-Frederiksen, Clinical Neurophysiology, 2006, 117, 1173–1189.
66
P. Machado, S. Brady and M. G. Hanna, Current Opinion in Rheumatology, 2013, 25, 763–771.
67
P. M. Machado, M. M. Dimachkie and R. J. Barohn, Current Opinion in Neurology, 2014, 27, 591–598.
68
P. M. Machado, M. Ahmed, S. Brady, Q. Gang, E. Healy, J. M. Morrow, A. C. Wallace, L. Dewar, G. Ramdharry, M. Parton, J. L. Holton, H. Houlden, L. Greensmith and M. G. Hanna, Current Rheumatology Reports, , DOI:10.1007/s11926-014-0477-9.
69
M. Ahmed, P. M. Machado, A. Miller, C. Spicer, L. Herbelin, J. He, J. Noel, Y. Wang, A. L. McVey, M. Pasnoor, P. Gallagher, J. Statland, C.-H. Lu, B. Kalmar, S. Brady, H. Sethi, G. Samandouras, M. Parton, J. L. Holton, A. Weston, L. Collinson, J. P. Taylor, G. Schiavo, M. G. Hanna, R. J. Barohn, M. M. Dimachkie and L. Greensmith, Science Translational Medicine, 2016, 8, 331ra41-331ra41.
70
M. Needham and F. L. Mastaglia, Clinical Neurophysiology, 2016, 127, 1764–1773.
71
R. Schröder and B. Schoser, Brain Pathology, 2009, 19, 483–492.
72
A. A. Amato and S. A. Greenberg, CONTINUUM: Lifelong Learning in Neurology, 2013, 19, 1615–1633.
73
M. Olivé, R. A. Kley and L. G. Goldfarb, Current Opinion in Neurology, 2013, 26, 527–535.
74
P.-O. Carstens and J. Schmidt, Clinical & Experimental Immunology, 2014, 175, 349–358.
75
M. C. Dalakas, New England Journal of Medicine, 2015, 372, 1734–1747.
76
B. T. Darras, D. C. De Vivo and H. R. Jones, Neuromuscular disorders of infancy, childhood, and adolescence: a clinician’s approach, Butterworth-Heinemann, Philadelphia, Penn. ; London, 2003.
77
M. T. C. Baioni and C. R. Ambiel, Jornal de Pediatria, 2010, 86, 261–270.
78
S. Rudnik-Schöneborn, I. Hausmanowa-Petrusewicz, J. Borkowska and K. Zerres, European Neurology, 2001, 45, 174–181.
79
B. S. Russman, C. R. Buncher, M. White, F. J. Samaha and S. T. Iannaccone, Neurology, 1996, 47, 973–976.
80
C. H. Wang, R. S. Finkel, E. S. Bertini, M. Schroth, A. Simonds, B. Wong, A. Aloysius, L. Morrison, M. Main, T. O. Crawford and A. Trela, Journal of Child Neurology, 2007, 22, 1027–1049.
81
E. Mercuri, E. Bertini and S. T. Iannaccone, The Lancet Neurology, 2012, 11, 443–452.
82
C. E. M. Hollak and R. Lachmann, Eds., Inherited Metabolic Disease in Adults, Oxford University Press, 2016, vol. 1.
83
Nancy D Leslie, Gene Reviews.
84
Thomas Wieser, Gene Reviews.
85
Miguel A Martín, Gene Reviews.
86
Nancy Leslie, Gene Reviews.
87
M. C. Ørngreen and J. Vissing, Current Treatment Options in Neurology, , DOI:10.1007/s11940-017-0473-2.
88
S. E. Olpin, E. Murphy, R. J. Kirk, R. W. Taylor and R. Quinlivan, Journal of Clinical Pathology, 2015, 68, 410–417.
89
B. Feingold, W. T. Mahle, S. Auerbach, P. Clemens, A. A. Domenighetti, J. L. Jefferies, D. P. Judge, A. K. Lal, L. W. Markham, W. J. Parks, T. Tsuda, P. J. Wang and S.-J. Yoo, Circulation, , DOI:10.1161/CIR.0000000000000526.
90
E. Matthews and M. G. Hanna, in Oxford Textbook of Neuromuscular Disorders, eds. D. Hilton-Jones and M. R. Turner, Oxford University Press, 2014, pp. 316–325.
91
C. E. M. Hollak and R. Lachmann, Eds., Inherited Metabolic Disease in Adults, Oxford University Press, 2016, vol. 1.
92
J. M. Saudubray, M. R. Baumgartner and J. Walter, Eds., Inborn metabolic diseases: diagnosis and treatment, Springer, Berlin, 6th edition., 2016.
93
G. F. Hoffmann, J. Zschocke and W. L. Nyhan, Eds., Inherited metabolic diseases: a clinical approach, Springer, Berlin, Second edition., 2017.