Abstract

Duchenne muscular dystrophy (DMD) is an X-linked debilitating muscular disease that may decrease nitric oxide (NO) production and lead to functional muscular ischemia. Currently, the 6-minute walk test (6-MWT) and the North Star Ambulatory Assessment (NSAA) are the primary outcome measures in clinical trials, but they are severely limited by the subjective consciousness and mood of patients, and can only be used in older and ambulatory boys. This study proposed using functional near-infrared spectroscopy (fNIRS) to evaluate the dynamic changes in muscle hemodynamic responses (gastrocnemius and forearm muscle) during a 6-MWT and a venous occlusion test (VOT), respectively. Muscle oxygenation of the forearm was evaluated non-invasively before, during and after VOT in all participants (included 30 DMD patients and 30 age-matched healthy controls), while dynamic muscle oxygenation of gastrocnemius muscle during 6-MWT was determined in ambulatory participants (n = 18) and healthy controls (n = 30). The results reveal that impaired muscle oxygenation was observed during 6-MWT in DMD patients that may explain why the DMD patients walked shorter distances than healthy controls. Moreover, the results of VOT implied that worsening muscle function was associated with a lower supply of muscle oxygenation and may provide useful information on the relationship between muscular oxygen consumption and supply for the clinical diagnosis of DMD. Therefore, the method of fNIRS with VOT possesses great potential in future evaluations of DMD patients that implies a good feasibility for clinical application such as for monitoring disease severity of DMD.

© 2018 Optical Society of America under the terms of the OSA Open Access Publishing Agreement

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2017 (3)

T. Osawa, K. Shiose, and H. Takahashi, “Tissue blood volume parameters measured by continuous-wave and spatially resolved NIRS show different changes during prolonged cycling exercise,” Adv. Exp. Med. Biol. 977, 249–254 (2017).
[Crossref] [PubMed]

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
[Crossref] [PubMed]

W.-C. Weng, P.-H. Tsui, C.-W. Lin, C.-H. Lu, C.-Y. Lin, J. Y. Shieh, F. L. Lu, T. W. Ee, K. W. Wu, and W. T. Lee, “Evaluation of muscular changes by ultrasound Nakagami imaging in Duchenne muscular dystrophy,” Sci. Rep. 7(1), 4429 (2017), doi:.
[Crossref] [PubMed]

2016 (3)

M. Seong, Z. Phillips, P. M. H. Mai, C. Yeo, C. Song, K. Lee, and J. G. Kim, “Simultaneous blood flow and blood oxygenation measurements using a combination of diffuse speckle contrast analysis and near-infrared spectroscopy,” J. Biomed. Opt. 21(2), 027001 (2016).
[Crossref] [PubMed]

B. Grassi and V. Quaresima, “Near-infrared spectroscopy and skeletal muscle oxidative function in vivo in health and disease: a review from an exercise physiology perspective,” J. Biomed. Opt. 21(9), 091313 (2016).
[Crossref] [PubMed]

G. Bale, C. E. Elwell, and I. Tachtsidis, “From Jöbsis to the present day: a review of clinical near-infrared spectroscopy measurements of cerebral cytochrome-c-oxidase,” J. Biomed. Opt. 21(9), 091307 (2016)

2015 (4)

T. Binzoni and L. Spinelli, “Near-infrared photons: a non-invasive probe for studying bone blood flow regulation in humans,” J. Physiol. Anthropol. 34(1), 1–6 (2015).
[PubMed]

C. Latroche, B. Matot, A. Martins-Bach, D. Briand, B. Chazaud, C. Wary, P. G. Carlier, F. Chrétien, and G. Jouvion, “Structural and functional alterations of skeletal muscle microvasculature in dystrophin-deficient mdx mice,” Am. J. Pathol. 185(9), 2482–2494 (2015).
[Crossref] [PubMed]

O. Levi, O. Genin, C. Angelini, O. Halevy, and M. Pines, “Inhibition of muscle fibrosis results in increases in both utrophin levels and the number of revertant myofibers in Duchenne muscular dystrophy,” Oncotarget 6(27), 23249–23260 (2015).
[Crossref] [PubMed]

S. Koga, D. C. Poole, N. Kondo, A. Oue, E. Ohmae, and T. J. Barstow, “Effects of increased skin blood flow on muscle oxygenation/deoxygenation: comparison of time-resolved and continuous-wave near-infrared spectroscopy signals,” Eur. J. Appl. Physiol. 115(2), 335–343 (2015).
[Crossref] [PubMed]

2014 (5)

S. Hyttel-Sorensen, T. W. Hessel, and G. Greisen, “Peripheral tissue oximetry: comparing three commercial near-infrared spectroscopy oximeters on the forearm,” J. Clin. Monit. Comput. 28(2), 149–155 (2014).
[Crossref] [PubMed]

F. Scholkmann, S. Kleiser, A. J. Metz, R. Zimmermann, J. Mata Pavia, U. Wolf, and M. Wolf, “A review on continuous wave functional near-infrared spectroscopy and imaging instrumentation and methodology,” Neuroimage 85(1), 6–27 (2014).
[Crossref] [PubMed]

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

S. Jarmin, H. Kymalainen, L. Popplewell, and G. Dickson, “New developments in the use of gene therapy to treat Duchenne muscular dystrophy,” Expert Opin. Biol. Ther. 14(2), 209–230 (2014).
[Crossref] [PubMed]

A. Aartsma-Rus, A. Ferlini, N. Goemans, A. M. Pasmooij, D. J. Wells, K. Bushby, E. Vroom, and P. Balabanov, “Translational and regulatory challenges for exon skipping therapies,” Hum. Gene Ther. 25(10), 885–892 (2014).
[Crossref] [PubMed]

2013 (4)

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
[Crossref] [PubMed]

G. D. Thomas, “Functional muscle ischemia in Duchenne and Becker muscular dystrophy,” Front. Physiol. 4(381), 381 (2013).
[PubMed]

J. P. Ennen, M. Verma, and A. Asakura, “Vascular-targeted therapies for Duchenne muscular dystrophy,” Skelet. Muscle 3(1), 9 (2013), doi:.
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. M. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study,” Muscle Nerve 48(3), 343–356 (2013).
[Crossref] [PubMed]

2012 (6)

H. Amthor and W. M. H. Hoogaars, “Interference with myostatin/ActRIIB signaling as a therapeutic strategy for Duchenne muscular dystrophy,” Curr. Gene Ther. 12(3), 245–259 (2012).
[Crossref] [PubMed]

B. Celie, J. Boone, R. Van Coster, and J. Bourgois, “Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise,” Eur. J. Appl. Physiol. 112(6), 2369–2374 (2012).
[Crossref] [PubMed]

T. W. Scheeren, P. Schober, and L. A. Schwarte, “Monitoring tissue oxygenation by near infrared spectroscopy (NIRS): background and current applications,” J. Clin. Monit. Comput. 26(4), 279–287 (2012).
[Crossref] [PubMed]

M. Jansen, M. De Jong, H. M. Coes, F. Eggermont, N. Van Alfen, and I. J. M. De Groot, “The assisted 6-minute cycling test to assess endurance in children with a neuromuscular disorder,” Muscle Nerve 46(4), 520–530 (2012).
[Crossref] [PubMed]

J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
[Crossref] [PubMed]

B. Jacobi, G. Bongartz, S. Partovi, A. C. Schulte, M. Aschwanden, A. B. Lumsden, M. G. Davies, M. Loebe, G. P. Noon, S. Karimi, J. K. Lyo, D. Staub, R. W. Huegli, and D. Bilecen, “Skeletal muscle BOLD MRI: from underlying physiological concepts to its usefulness in clinical conditions,” J. Magn. Reson. Imaging 35(6), 1253–1265 (2012).
[Crossref] [PubMed]

2011 (2)

C. Mayeur, S. Campard, C. Richard, and J. L. Teboul, “Comparison of four different vascular occlusion tests for assessing reactive hyperemia using near-infrared spectroscopy,” Crit. Care Med. 39(4), 695–701 (2011).
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T. Hamaoka, K. K. McCully, M. Niwayama, and B. Chance, “The use of muscle near-infrared spectroscopy in sport, health and medical sciences: recent developments,” Philos Trans A Math Phys Eng Sci 369(1955), 4591–4604 (2011).
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2010 (6)

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, “Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care,” Lancet Neurol. 9(2), 177–189 (2010).
[Crossref] [PubMed]

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, “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management,” Lancet Neurol. 9(1), 77–93 (2010).
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C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, L. Atkinson, G. L. Elfring, A. Reha, and L. L. Miller, “The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations,” Muscle Nerve 42(6), 966–974 (2010).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
[Crossref] [PubMed]

M. Kravari, E. Angelopoulos, I. Vasileiadis, V. Gerovasili, and S. Nanas, “Monitoring tissue oxygenation during exercise with near infrared spectroscopy in diseased populations – A brief review,” Int. J. Ind. Ergon. 40(2), 223–227 (2010).
[Crossref]

2009 (3)

B. Shadgan, W. D. Reid, R. Gharakhanlou, L. Stothers, and A. J. Macnab, “Wireless near-infrared spectroscopy of skeletal muscle oxygenation and hemodynamics during exercise and ischemia,” J. Spectrosc. 23(5–6), 233–241 (2009).
[Crossref]

R. Bezemer, A. Lima, D. Myers, E. Klijn, M. Heger, P. T. Goedhart, J. Bakker, and C. Ince, “Assessment of tissue oxygen saturation during a vascular occlusion test using near-infrared spectroscopy: the role of probe spacing and measurement site studied in healthy volunteers,” Crit. Care 13(5Suppl 5), S4 (2009), doi:.
[Crossref] [PubMed]

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
[Crossref] [PubMed]

2008 (1)

H. Gómez, A. Torres, P. Polanco, H. K. Kim, S. Zenker, J. C. Puyana, and M. R. Pinsky, “Use of non-invasive NIRS during a vascular occlusion test to assess dynamic tissue O2 saturation response,” Intensive Care Med. 34(9), 1600–1607 (2008).
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2007 (2)

M.-A. Weber, M. Krix, and S. Delorme, “Quantitative evaluation of muscle perfusion with CEUS and with MR,” Eur. Radiol. 17(10), 2663–2674 (2007).
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T. Hamaoka, K. K. McCully, V. Quaresima, K. Yamamoto, and B. Chance, “Near-infrared spectroscopy/imaging for monitoring muscle oxygenation and oxidative metabolism in healthy and diseased humans,” J. Biomed. Opt. 12(6), 062105 (2007), doi:.
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2006 (1)

L. Kocsis, P. Herman, and A. Eke, “The modified Beer-Lambert law revisited,” Phys. Med. Biol. 51(5), N91–N98 (2006).
[Crossref] [PubMed]

2005 (1)

R. A. De Blasi, S. Palmisani, D. Alampi, M. Mercieri, R. Romano, S. Collini, and G. Pinto, “Microvascular dysfunction and skeletal muscle oxygenation assessed by phase-modulation near-infrared spectroscopy in patients with septic shock,” Intensive Care Med. 31(12), 1661–1668 (2005).
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2003 (1)

G. D. Thomas, P. W. Shaul, I. S. Yuhanna, S. C. Froehner, and M. E. Adams, “Vasomodulation by Skeletal Muscle-Derived Nitric Oxide Requires Alpha-Syntrophin-Mediated Sarcolemmal Localization of Neuronal Nitric oxide Synthase,” Circ. Res. 92(5), 554–560 (2003).
[Crossref] [PubMed]

2002 (3)

ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories, “ATS statement: guidelines for the six-minute walk test,” Am. J. Respir. Crit. Care Med. 166(1), 111–117 (2002).
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D. J. Blake, A. Weir, S. E. Newey, and K. E. Davies, “Function and genetics of dystrophin and dystrophin-related proteins in muscle,” Physiol. Rev. 82(2), 291–329 (2002).
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D. W. Slaaf and M. G. Oude Egbrink, “Capillaries and flow redistribution play an important role in muscle blood flow reserve capacity,” J. Mal. Vasc. 27(2), 63–67 (2002).
[PubMed]

2001 (1)

M. C. Van Beekvelt, W. N. Colier, R. A. Wevers, and B. G. Van Engelen, “Performance of near-infrared spectroscopy in measuring local O2 consumption and blood flow in skeletal muscle,” J. Appl. Physiol. 90(2), 511–519 (2001).
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2000 (2)

M. Sander, B. Chavoshan, S. A. Harris, S. T. Iannaccone, J. T. Stull, G. D. Thomas, and R. G. Victor, “Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 97(25), 13818–13823 (2000).
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R. Boushel and C. A. Piantadosi, “Near-infrared spectroscopy for monitoring muscle oxygenation,” Acta Physiol. Scand. 168(4), 615–622 (2000).
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1998 (1)

G. D. Thomas, M. Sander, K. S. Lau, P. L. Huang, J. T. Stull, and R. G. Victor, “Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle,” Proc. Natl. Acad. Sci. U.S.A. 95(25), 15090–15095 (1998).
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1996 (1)

W. J. Chang, S. T. Iannaccone, K. S. Lau, B. S. Masters, T. J. McCabe, K. McMillan, R. C. Padre, M. J. Spencer, J. G. Tidball, and J. T. Stull, “Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 93(17), 9142–9147 (1996).
[Crossref] [PubMed]

1995 (1)

J. E. Brenman, D. S. Chao, H. Xia, K. Aldape, and D. S. Bredt, “Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy,” Cell 82(5), 743–752 (1995).
[Crossref] [PubMed]

1994 (1)

R. A. De Blasi, M. Ferrari, A. Natali, G. Conti, A. Mega, and A. Gasparetto, “Noninvasive measurement of forearm blood flow and oxygen consumption by near-infrared spectroscopy,” J. Appl. Physiol. 76(3), 1388–1393 (1994).
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1993 (1)

B. J. Petrof, J. B. Shrager, H. H. Stedman, A. M. Kelly, and H. L. Sweeney, “Dystrophin protects the sarcolemma from stresses developed during muscle contraction,” Proc. Natl. Acad. Sci. U.S.A. 90(8), 3710–3714 (1993).
[Crossref] [PubMed]

1991 (1)

A. E. H. Emery, “Population frequencies of inherited neuromuscular diseases--a world survey,” Neuromuscul. Disord. 1(1), 19–29 (1991).
[Crossref] [PubMed]

Aartsma-Rus, A.

A. Aartsma-Rus, A. Ferlini, N. Goemans, A. M. Pasmooij, D. J. Wells, K. Bushby, E. Vroom, and P. Balabanov, “Translational and regulatory challenges for exon skipping therapies,” Hum. Gene Ther. 25(10), 885–892 (2014).
[Crossref] [PubMed]

Abresch, R. T.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. M. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study,” Muscle Nerve 48(3), 343–356 (2013).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, L. Atkinson, G. L. Elfring, A. Reha, and L. L. Miller, “The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations,” Muscle Nerve 42(6), 966–974 (2010).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
[Crossref] [PubMed]

Adams, M. E.

G. D. Thomas, P. W. Shaul, I. S. Yuhanna, S. C. Froehner, and M. E. Adams, “Vasomodulation by Skeletal Muscle-Derived Nitric Oxide Requires Alpha-Syntrophin-Mediated Sarcolemmal Localization of Neuronal Nitric oxide Synthase,” Circ. Res. 92(5), 554–560 (2003).
[Crossref] [PubMed]

Alampi, D.

R. A. De Blasi, S. Palmisani, D. Alampi, M. Mercieri, R. Romano, S. Collini, and G. Pinto, “Microvascular dysfunction and skeletal muscle oxygenation assessed by phase-modulation near-infrared spectroscopy in patients with septic shock,” Intensive Care Med. 31(12), 1661–1668 (2005).
[Crossref] [PubMed]

al-Dahhak, R.

J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
[Crossref] [PubMed]

Aldape, K.

J. E. Brenman, D. S. Chao, H. Xia, K. Aldape, and D. S. Bredt, “Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy,” Cell 82(5), 743–752 (1995).
[Crossref] [PubMed]

Alfieri, P.

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
[Crossref] [PubMed]

Amthor, H.

H. Amthor and W. M. H. Hoogaars, “Interference with myostatin/ActRIIB signaling as a therapeutic strategy for Duchenne muscular dystrophy,” Curr. Gene Ther. 12(3), 245–259 (2012).
[Crossref] [PubMed]

Angelini, C.

O. Levi, O. Genin, C. Angelini, O. Halevy, and M. Pines, “Inhibition of muscle fibrosis results in increases in both utrophin levels and the number of revertant myofibers in Duchenne muscular dystrophy,” Oncotarget 6(27), 23249–23260 (2015).
[Crossref] [PubMed]

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
[Crossref] [PubMed]

Angelopoulos, E.

M. Kravari, E. Angelopoulos, I. Vasileiadis, V. Gerovasili, and S. Nanas, “Monitoring tissue oxygenation during exercise with near infrared spectroscopy in diseased populations – A brief review,” Int. J. Ind. Ergon. 40(2), 223–227 (2010).
[Crossref]

Aoyagi, A.

J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
[Crossref] [PubMed]

Asakura, A.

J. P. Ennen, M. Verma, and A. Asakura, “Vascular-targeted therapies for Duchenne muscular dystrophy,” Skelet. Muscle 3(1), 9 (2013), doi:.
[Crossref] [PubMed]

Aschwanden, M.

B. Jacobi, G. Bongartz, S. Partovi, A. C. Schulte, M. Aschwanden, A. B. Lumsden, M. G. Davies, M. Loebe, G. P. Noon, S. Karimi, J. K. Lyo, D. Staub, R. W. Huegli, and D. Bilecen, “Skeletal muscle BOLD MRI: from underlying physiological concepts to its usefulness in clinical conditions,” J. Magn. Reson. Imaging 35(6), 1253–1265 (2012).
[Crossref] [PubMed]

Astrea, G.

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
[Crossref] [PubMed]

Atkinson, L.

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, L. Atkinson, G. L. Elfring, A. Reha, and L. L. Miller, “The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations,” Muscle Nerve 42(6), 966–974 (2010).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
[Crossref] [PubMed]

Bakker, J.

R. Bezemer, A. Lima, D. Myers, E. Klijn, M. Heger, P. T. Goedhart, J. Bakker, and C. Ince, “Assessment of tissue oxygen saturation during a vascular occlusion test using near-infrared spectroscopy: the role of probe spacing and measurement site studied in healthy volunteers,” Crit. Care 13(5Suppl 5), S4 (2009), doi:.
[Crossref] [PubMed]

Balabanov, P.

A. Aartsma-Rus, A. Ferlini, N. Goemans, A. M. Pasmooij, D. J. Wells, K. Bushby, E. Vroom, and P. Balabanov, “Translational and regulatory challenges for exon skipping therapies,” Hum. Gene Ther. 25(10), 885–892 (2014).
[Crossref] [PubMed]

Bale, G.

G. Bale, C. E. Elwell, and I. Tachtsidis, “From Jöbsis to the present day: a review of clinical near-infrared spectroscopy measurements of cerebral cytochrome-c-oxidase,” J. Biomed. Opt. 21(9), 091307 (2016)

Barohn, R.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

Barstow, T. J.

S. Koga, D. C. Poole, N. Kondo, A. Oue, E. Ohmae, and T. J. Barstow, “Effects of increased skin blood flow on muscle oxygenation/deoxygenation: comparison of time-resolved and continuous-wave near-infrared spectroscopy signals,” Eur. J. Appl. Physiol. 115(2), 335–343 (2015).
[Crossref] [PubMed]

Barth, J.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. M. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study,” Muscle Nerve 48(3), 343–356 (2013).
[Crossref] [PubMed]

Battini, R.

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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Bello, L.

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B. Celie, J. Boone, R. Van Coster, and J. Bourgois, “Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise,” Eur. J. Appl. Physiol. 112(6), 2369–2374 (2012).
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R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
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Cripe, L.

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, “Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care,” Lancet Neurol. 9(2), 177–189 (2010).
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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, “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management,” Lancet Neurol. 9(1), 77–93 (2010).
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E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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M. Jansen, M. De Jong, H. M. Coes, F. Eggermont, N. Van Alfen, and I. J. M. De Groot, “The assisted 6-minute cycling test to assess endurance in children with a neuromuscular disorder,” Muscle Nerve 46(4), 520–530 (2012).
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M. Jansen, M. De Jong, H. M. Coes, F. Eggermont, N. Van Alfen, and I. J. M. De Groot, “The assisted 6-minute cycling test to assess endurance in children with a neuromuscular disorder,” Muscle Nerve 46(4), 520–530 (2012).
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E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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Donati, M. A.

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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Dubrovsky, A. L.

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
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Dunn, D. M.

J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
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J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
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Eagle, M.

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
[Crossref] [PubMed]

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. M. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study,” Muscle Nerve 48(3), 343–356 (2013).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
[Crossref] [PubMed]

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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Eggermont, F.

M. Jansen, M. De Jong, H. M. Coes, F. Eggermont, N. Van Alfen, and I. J. M. De Groot, “The assisted 6-minute cycling test to assess endurance in children with a neuromuscular disorder,” Muscle Nerve 46(4), 520–530 (2012).
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Elashoff, R.

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
[Crossref] [PubMed]

Elfring, G.

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. M. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study,” Muscle Nerve 48(3), 343–356 (2013).
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Elfring, G. L.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
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C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, L. Atkinson, G. L. Elfring, A. Reha, and L. L. Miller, “The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations,” Muscle Nerve 42(6), 966–974 (2010).
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C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
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R. A. De Blasi, M. Ferrari, A. Natali, G. Conti, A. Mega, and A. Gasparetto, “Noninvasive measurement of forearm blood flow and oxygen consumption by near-infrared spectroscopy,” J. Appl. Physiol. 76(3), 1388–1393 (1994).
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Ferretti, M.

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
[Crossref] [PubMed]

Finkel, R.

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
[Crossref] [PubMed]

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

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, “Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care,” Lancet Neurol. 9(2), 177–189 (2010).
[Crossref] [PubMed]

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, “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management,” Lancet Neurol. 9(1), 77–93 (2010).
[Crossref] [PubMed]

Flanigan, K. M.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
[Crossref] [PubMed]

Florence, J.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
[Crossref] [PubMed]

Florence, J. M.

C. M. McDonald, E. K. Henricson, R. T. Abresch, J. M. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study,” Muscle Nerve 48(3), 343–356 (2013).
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Frosini, S.

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
[Crossref] [PubMed]

Furlong, P.

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
[Crossref] [PubMed]

Gappmaier, E.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
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E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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F. Scholkmann, S. Kleiser, A. J. Metz, R. Zimmermann, J. Mata Pavia, U. Wolf, and M. Wolf, “A review on continuous wave functional near-infrared spectroscopy and imaging instrumentation and methodology,” Neuroimage 85(1), 6–27 (2014).
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Miceli, M. C.

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
[Crossref] [PubMed]

Miller, L. L.

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
[Crossref] [PubMed]

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[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, G. L. Elfring, L. Atkinson, A. Reha, S. Hirawat, and L. L. Miller, “The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy,” Muscle Nerve 41(4), 500–510 (2010).
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Mongini, T.

E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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Moore, S. A.

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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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[Crossref] [PubMed]

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[Crossref] [PubMed]

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[Crossref] [PubMed]

C. M. McDonald, E. K. Henricson, J. J. Han, R. T. Abresch, A. Nicorici, L. Atkinson, G. L. Elfring, A. Reha, and L. L. Miller, “The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations,” Muscle Nerve 42(6), 966–974 (2010).
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E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
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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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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M. Sander, B. Chavoshan, S. A. Harris, S. T. Iannaccone, J. T. Stull, G. D. Thomas, and R. G. Victor, “Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 97(25), 13818–13823 (2000).
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G. D. Thomas, M. Sander, K. S. Lau, P. L. Huang, J. T. Stull, and R. G. Victor, “Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle,” Proc. Natl. Acad. Sci. U.S.A. 95(25), 15090–15095 (1998).
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T. W. Scheeren, P. Schober, and L. A. Schwarte, “Monitoring tissue oxygenation by near infrared spectroscopy (NIRS): background and current applications,” J. Clin. Monit. Comput. 26(4), 279–287 (2012).
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T. W. Scheeren, P. Schober, and L. A. Schwarte, “Monitoring tissue oxygenation by near infrared spectroscopy (NIRS): background and current applications,” J. Clin. Monit. Comput. 26(4), 279–287 (2012).
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B. Jacobi, G. Bongartz, S. Partovi, A. C. Schulte, M. Aschwanden, A. B. Lumsden, M. G. Davies, M. Loebe, G. P. Noon, S. Karimi, J. K. Lyo, D. Staub, R. W. Huegli, and D. Bilecen, “Skeletal muscle BOLD MRI: from underlying physiological concepts to its usefulness in clinical conditions,” J. Magn. Reson. Imaging 35(6), 1253–1265 (2012).
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T. W. Scheeren, P. Schober, and L. A. Schwarte, “Monitoring tissue oxygenation by near infrared spectroscopy (NIRS): background and current applications,” J. Clin. Monit. Comput. 26(4), 279–287 (2012).
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M. Seong, Z. Phillips, P. M. H. Mai, C. Yeo, C. Song, K. Lee, and J. G. Kim, “Simultaneous blood flow and blood oxygenation measurements using a combination of diffuse speckle contrast analysis and near-infrared spectroscopy,” J. Biomed. Opt. 21(2), 027001 (2016).
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B. Shadgan, W. D. Reid, R. Gharakhanlou, L. Stothers, and A. J. Macnab, “Wireless near-infrared spectroscopy of skeletal muscle oxygenation and hemodynamics during exercise and ischemia,” J. Spectrosc. 23(5–6), 233–241 (2009).
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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, “Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care,” Lancet Neurol. 9(2), 177–189 (2010).
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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, “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management,” Lancet Neurol. 9(1), 77–93 (2010).
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G. D. Thomas, P. W. Shaul, I. S. Yuhanna, S. C. Froehner, and M. E. Adams, “Vasomodulation by Skeletal Muscle-Derived Nitric Oxide Requires Alpha-Syntrophin-Mediated Sarcolemmal Localization of Neuronal Nitric oxide Synthase,” Circ. Res. 92(5), 554–560 (2003).
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J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
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T. Osawa, K. Shiose, and H. Takahashi, “Tissue blood volume parameters measured by continuous-wave and spatially resolved NIRS show different changes during prolonged cycling exercise,” Adv. Exp. Med. Biol. 977, 249–254 (2017).
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B. J. Petrof, J. B. Shrager, H. H. Stedman, A. M. Kelly, and H. L. Sweeney, “Dystrophin protects the sarcolemma from stresses developed during muscle contraction,” Proc. Natl. Acad. Sci. U.S.A. 90(8), 3710–3714 (1993).
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W. J. Chang, S. T. Iannaccone, K. S. Lau, B. S. Masters, T. J. McCabe, K. McMillan, R. C. Padre, M. J. Spencer, J. G. Tidball, and J. T. Stull, “Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 93(17), 9142–9147 (1996).
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C. M. McDonald, E. K. Henricson, R. T. Abresch, J. Florence, M. Eagle, E. Gappmaier, A. M. Glanzman, R. Spiegel, J. Barth, G. Elfring, A. Reha, S. W. Peltz, and PTC124-GD-007-DMD Study Group, “The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study,” Muscle Nerve 48(3), 357–368 (2013).
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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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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B. J. Petrof, J. B. Shrager, H. H. Stedman, A. M. Kelly, and H. L. Sweeney, “Dystrophin protects the sarcolemma from stresses developed during muscle contraction,” Proc. Natl. Acad. Sci. U.S.A. 90(8), 3710–3714 (1993).
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Stothers, L.

B. Shadgan, W. D. Reid, R. Gharakhanlou, L. Stothers, and A. J. Macnab, “Wireless near-infrared spectroscopy of skeletal muscle oxygenation and hemodynamics during exercise and ischemia,” J. Spectrosc. 23(5–6), 233–241 (2009).
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J. R. Mendell, C. Shilling, N. D. Leslie, K. M. Flanigan, R. al-Dahhak, J. Gastier-Foster, K. Kneile, D. M. Dunn, B. Duval, A. Aoyagi, C. Hamil, M. Mahmoud, K. Roush, L. Bird, C. Rankin, H. Lilly, N. Street, R. Chandrasekar, and R. B. Weiss, “Evidence-based path to newborn screening for Duchenne muscular dystrophy,” Ann. Neurol. 71(3), 304–313 (2012).
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M. Sander, B. Chavoshan, S. A. Harris, S. T. Iannaccone, J. T. Stull, G. D. Thomas, and R. G. Victor, “Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 97(25), 13818–13823 (2000).
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G. D. Thomas, M. Sander, K. S. Lau, P. L. Huang, J. T. Stull, and R. G. Victor, “Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle,” Proc. Natl. Acad. Sci. U.S.A. 95(25), 15090–15095 (1998).
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Sweeney, H. L.

R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
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B. J. Petrof, J. B. Shrager, H. H. Stedman, A. M. Kelly, and H. L. Sweeney, “Dystrophin protects the sarcolemma from stresses developed during muscle contraction,” Proc. Natl. Acad. Sci. U.S.A. 90(8), 3710–3714 (1993).
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Takahashi, H.

T. Osawa, K. Shiose, and H. Takahashi, “Tissue blood volume parameters measured by continuous-wave and spatially resolved NIRS show different changes during prolonged cycling exercise,” Adv. Exp. Med. Biol. 977, 249–254 (2017).
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G. D. Thomas, P. W. Shaul, I. S. Yuhanna, S. C. Froehner, and M. E. Adams, “Vasomodulation by Skeletal Muscle-Derived Nitric Oxide Requires Alpha-Syntrophin-Mediated Sarcolemmal Localization of Neuronal Nitric oxide Synthase,” Circ. Res. 92(5), 554–560 (2003).
[Crossref] [PubMed]

M. Sander, B. Chavoshan, S. A. Harris, S. T. Iannaccone, J. T. Stull, G. D. Thomas, and R. G. Victor, “Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 97(25), 13818–13823 (2000).
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G. D. Thomas, M. Sander, K. S. Lau, P. L. Huang, J. T. Stull, and R. G. Victor, “Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle,” Proc. Natl. Acad. Sci. U.S.A. 95(25), 15090–15095 (1998).
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W. J. Chang, S. T. Iannaccone, K. S. Lau, B. S. Masters, T. J. McCabe, K. McMillan, R. C. Padre, M. J. Spencer, J. G. Tidball, and J. T. Stull, “Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 93(17), 9142–9147 (1996).
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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, “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management,” Lancet Neurol. 9(1), 77–93 (2010).
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R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
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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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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R. G. Victor, H. L. Sweeney, R. Finkel, C. M. McDonald, B. Byrne, M. Eagle, N. Goemans, K. Vandenborne, A. L. Dubrovsky, H. Topaloglu, M. C. Miceli, P. Furlong, J. Landry, R. Elashoff, and D. Cox, “A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy,” Neurology 89(17), 1811–1820 (2017).
[Crossref] [PubMed]

M. Sander, B. Chavoshan, S. A. Harris, S. T. Iannaccone, J. T. Stull, G. D. Thomas, and R. G. Victor, “Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy,” Proc. Natl. Acad. Sci. U.S.A. 97(25), 13818–13823 (2000).
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E. S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M. G. Motta, M. R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M. A. Donati, E. Bertini, and E. Mercuri, “Reliability of the North Star Ambulatory Assessment in a multicentric setting,” Neuromuscul. Disord. 19(7), 458–461 (2009).
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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, “Ataluren treatment of patients with nonsense mutation dystrophinopathy,” Muscle Nerve 50(4), 477–487 (2014).
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A. Aartsma-Rus, A. Ferlini, N. Goemans, A. M. Pasmooij, D. J. Wells, K. Bushby, E. Vroom, and P. Balabanov, “Translational and regulatory challenges for exon skipping therapies,” Hum. Gene Ther. 25(10), 885–892 (2014).
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Cell (1)

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Figures (7)

Fig. 1
Fig. 1 Schematic diagram of the experimental procedure of 6-minute walk test (6-MWT): a totally 9 minutes fNIRS measure was performed in three stages: (1) resting-state for 1 minute, (2) 6-MWT, and (3) recovery-state for 2 minutes.
Fig. 2
Fig. 2 Schematic diagram of the experimental procedure of venous occlusion test (VOT):a totally 4 minutes fNIRS measure was performed in three stages: (1) resting-state for 1 minute, (2) VOT for 1 minute, and (3) recovery-state for 2 minutes.
Fig. 3
Fig. 3 Effect of 6-MWT on the dynamic change in muscle oxygenated hemoglobin (Δ[HbO2]) and deoxygenated hemoglobin (Δ[Hb]). (a) healthy group (n = 30); (b) ambulatory DMD group (n = 18); (c) effect of 6-MWT on the dynamic change in muscle total oxygenated hemoglobin (Δ[tHb]).
Fig. 4
Fig. 4 Effects of VOT on the dynamic change in muscle oxygenated hemoglobin (Δ[HbO2]) and deoxygenated hemoglobin (Δ[Hb]). (a) healthy group (n = 30); (b) DMD group include ambulatory and non-ambulatory patients (n = 30); (c) ambulatory DMD group (n = 18); (d) non-ambulatory DMD group (n = 12).
Fig. 5
Fig. 5 Effects of VOT on the dynamic change in muscle total hemoglobin (Δ[tHb]). (a) comparison of healthy group and DMD patients include ambulatory and non- ambulatory groups; (b) comparison of the healthy, ambulatory and non-ambulatory groups.
Fig. 6
Fig. 6 The slope of increased Δ[HbO2] during VOT. The slope of Δ[HbO2] during VOT is significantly different between healthy and DMD groups. (Two sample t-test, ** p < 0.01).
Fig. 7
Fig. 7 The slope of increased Δ[HbO2] during VOT and average walking distance of 6-MWT. The slope of Δ[HbO2] during VOT is significantly different among healthy, ambulatory DMD and non-ambulatory DMD groups. The average walking distance is also significantly different between healthy and ambulatory DMD groups. (Wilcoxon rank sum test, ** p < 0.01).

Equations (4)

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OD(λ,t)= log 10 I(λ,t) I 0 (λ,t) =A(λ,t)+S(λ,t)
A(λ,t)=( ε Hb O 2 (λ)[Hb O 2 ](t)+ ε Hb (λ)[Hb](t))L(λ,t)
ΔOD(λ,t)=OD(λ,t)OD(λ, t 0 )= log 10 I 0 (λ,t) I 0 (λ, t 0 ) =( ε Hb O 2 (λ)Δ[Hb O 2 ]+ ε Hb (λ)Δ[Hb])L(λ,t)
Sv= Δ[Hb O 2 ](120s)Δ[Hb O 2 ](61s) Δt=60s