-
1
-
-
53049110907
-
Facioscapulohumeral muscular dystrophy
-
Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics 2008;5:601-606.
-
(2008)
Neurotherapeutics
, vol.5
, pp. 601-606
-
-
Tawil, R.1
-
2
-
-
0034882438
-
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
-
Flanigan KM, Coffeen CM, Sexton L, Stauffer D, Brunner S, Leppert MF. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 2001;11:525-529.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 525-529
-
-
Flanigan, K.M.1
Coffeen, C.M.2
Sexton, L.3
Stauffer, D.4
Brunner, S.5
Leppert, M.F.6
-
3
-
-
66549122709
-
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample
-
Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009;75:550-555.
-
(2009)
Clin Genet
, vol.75
, pp. 550-555
-
-
Mostacciuolo, M.L.1
Pastorello, E.2
Vazza, G.3
Miorin, M.4
Angelini, C.5
Tomelleri, G.6
-
4
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-2042.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2037-2042
-
-
van Deutekom, J.C.1
Wijmenga, C.2
van Tienhoven, E.A.3
Gruter, A.M.4
Hewitt, J.E.5
Padberg, G.W.6
-
5
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26-30.
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.N.4
Wright, T.J.5
Dauwerse, H.G.6
-
6
-
-
79955664112
-
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence
-
Van der Maarel SM, Tawil R, Tapscott SJ. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med 2011;17:252-258.
-
(2011)
Trends Mol Med
, vol.17
, pp. 252-258
-
-
Van der Maarel, S.M.1
Tawil, R.2
Tapscott, S.J.3
-
7
-
-
33745715007
-
Facioscapulohumeral muscular dystrophy
-
Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006;34:1-15.
-
(2006)
Muscle Nerve
, vol.34
, pp. 1-15
-
-
Tawil, R.1
Van Der Maarel, S.M.2
-
8
-
-
0028801374
-
Profiles of neuromuscular diseases
-
Kilmer DD, Abresch RT, McCrory MA, Carter GT, Fowler WM Jr, Johnson ER, et al. Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil 1995;74(Suppl):S131-S139.
-
(1995)
Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil
, vol.74
, pp. S131-S139
-
-
Kilmer, D.D.1
Abresch, R.T.2
McCrory, M.A.3
Carter, G.T.4
Fowler, W.M.5
Johnson, E.R.6
-
9
-
-
80052443371
-
Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions
-
Statland JM, Tawil R. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol 2011;24:423-428.
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 423-428
-
-
Statland, J.M.1
Tawil, R.2
-
10
-
-
84863450530
-
RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy
-
Wallace LM, Liu J, Domire JS, Garwick-Coppens SE, Guckes SM, Mendell JR, et al. RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. Mol Ther 2012;20:1417-1423.
-
(2012)
Mol Ther
, vol.20
, pp. 1417-1423
-
-
Wallace, L.M.1
Liu, J.2
Domire, J.S.3
Garwick-Coppens, S.E.4
Guckes, S.M.5
Mendell, J.R.6
-
11
-
-
84891507115
-
Therapeutic advances in muscular dystrophy
-
Leung DG, Wagner KR. Therapeutic advances in muscular dystrophy. Ann Neurol 2013;74:404-411.
-
(2013)
Ann Neurol
, vol.74
, pp. 404-411
-
-
Leung, D.G.1
Wagner, K.R.2
-
12
-
-
84883050768
-
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
-
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, et al. 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 2013;48:357-368.
-
(2013)
Muscle Nerve
, vol.48
, pp. 357-368
-
-
McDonald, C.M.1
Henricson, E.K.2
Abresch, R.T.3
Florence, J.4
Eagle, M.5
Gappmaier, E.6
-
13
-
-
84890805770
-
Eteplirsen for the treatment of Duchenne muscular dystrophy
-
Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 2013;74:637-647.
-
(2013)
Ann Neurol
, vol.74
, pp. 637-647
-
-
Mendell, J.R.1
Rodino-Klapac, L.R.2
Sahenk, Z.3
Roush, K.4
Bird, L.5
Lowes, L.P.6
-
14
-
-
77950963839
-
A randomized study of alglucosidase alfa in late-onset Pompe's disease
-
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010;362:1396-1406.
-
(2010)
N Engl J Med
, vol.362
, pp. 1396-1406
-
-
van der Ploeg, A.T.1
Clemens, P.R.2
Corzo, D.3
Escolar, D.M.4
Florence, J.5
Groeneveld, G.J.6
-
15
-
-
84865550123
-
Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings
-
Lond
-
Bushby K, Connor E. Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Investig (Lond) 2011;1:1217-1235.
-
(2011)
Clin Investig
, vol.1
, pp. 1217-1235
-
-
Bushby, K.1
Connor, E.2
-
16
-
-
53249098299
-
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops
-
Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, et al. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops. Neuromuscul Disord 2008;18:894-903.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 894-903
-
-
Mercuri, E.1
Mayhew, A.2
Muntoni, F.3
Messina, S.4
Straub, V.5
Van Ommen, G.J.6
-
17
-
-
80054680303
-
Upper limb function in adults with Duchenne muscular dystrophy
-
Bartels B, Pangalila RF, Bergen MP, Cobben NA, Stam HJ, Roebroeck ME. Upper limb function in adults with Duchenne muscular dystrophy. J Rehabil Med 2011;43:770-775.
-
(2011)
J Rehabil Med
, vol.43
, pp. 770-775
-
-
Bartels, B.1
Pangalila, R.F.2
Bergen, M.P.3
Cobben, N.A.4
Stam, H.J.5
Roebroeck, M.E.6
-
18
-
-
77952009340
-
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009
-
Muntoni F. The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009. Neuromuscul Disord 2010;20:355-362.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 355-362
-
-
Muntoni, F.1
-
19
-
-
84866454704
-
Development and application of stereo camera-based upper extremity workspace evaluation in patients with neuromuscular diseases
-
Kurillo G, Han JJ, Abresch RT, Nicorici A, Yan P, Bajcsy R. Development and application of stereo camera-based upper extremity workspace evaluation in patients with neuromuscular diseases. PLoS One 2012;7:e45341.
-
(2012)
PLoS One
, vol.7
, pp. e45341
-
-
Kurillo, G.1
Han, J.J.2
Abresch, R.T.3
Nicorici, A.4
Yan, P.5
Bajcsy, R.6
-
20
-
-
84898653006
-
Validity, reliability, and sensitivity of a 3D vision sensor-based upper extremity reachable workspace evaluation in neuromuscular diseases
-
Han JJ, Kurillo G, Abresch RT, Nicorici A, Bajcsy R. Validity, reliability, and sensitivity of a 3D vision sensor-based upper extremity reachable workspace evaluation in neuromuscular diseases. PLoS Curr 2013;5:pii.
-
(2013)
PLoS Curr
, vol.5
-
-
Han, J.J.1
Kurillo, G.2
Abresch, R.T.3
Nicorici, A.4
Bajcsy, R.5
-
21
-
-
84879512032
-
Upper extremity reachable workspace evaluation with Kinect
-
Kurillo G, Han JJ, Obdrzalek S, Yan P, Abresch RT, Nicorici A, et al. Upper extremity reachable workspace evaluation with Kinect. Stud Health Technol Inform 2013;184:247-253.
-
(2013)
Stud Health Technol Inform
, vol.184
, pp. 247-253
-
-
Kurillo, G.1
Han, J.J.2
Obdrzalek, S.3
Yan, P.4
Abresch, R.T.5
Nicorici, A.6
-
22
-
-
84893805128
-
Evaluation of upper extremity reachable workspace using Kinect camera
-
Kurillo G, Chen A, Bajcsy R, Han JJ. Evaluation of upper extremity reachable workspace using Kinect camera. Technol Health Care 2013;21:641-656.
-
(2013)
Technol Health Care
, vol.21
, pp. 641-656
-
-
Kurillo, G.1
Chen, A.2
Bajcsy, R.3
Han, J.J.4
-
23
-
-
77955169855
-
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score
-
Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, et al. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score. Muscle Nerve 2010;42:213-217.
-
(2010)
Muscle Nerve
, vol.42
, pp. 213-217
-
-
Lamperti, C.1
Fabbri, G.2
Vercelli, L.3
D'Amico, R.4
Frusciante, R.5
Bonifazi, E.6
-
24
-
-
0002770208
-
The nine hole peg test of finger hand co-ordination for the hemiplegic patient
-
In: Sharpless JW, editor. Springfield, IL: Charles CT Thomas
-
Sharpless JW. The nine hole peg test of finger hand co-ordination for the hemiplegic patient. In: Sharpless JW, editor. Mossman's a problem oriented approach to stroke rehabilitation. Springfield, IL: Charles CT Thomas; 1982. p 420-423.
-
(1982)
Mossman's a problem oriented approach to stroke rehabilitation
, pp. 420-423
-
-
Sharpless, J.W.1
-
25
-
-
0014529645
-
An objective and standardized test of hand function
-
Jebsen RH, Taylor N, Trieschmann RB, Trotter MJ, Howard LA. An objective and standardized test of hand function. Arch Phys Med Rehabil 1969;50:311-319.
-
(1969)
Arch Phys Med Rehabil
, vol.50
, pp. 311-319
-
-
Jebsen, R.H.1
Taylor, N.2
Trieschmann, R.B.3
Trotter, M.J.4
Howard, L.A.5
-
26
-
-
0019522162
-
Clinical trial in Duchenne dystrophy
-
Brooke M, Griggs R, Mendell J, Fenichel G, Shumate J, Pellegrino R. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve 1981;4:186-197.
-
(1981)
I. The design of the protocol. Muscle Nerve
, vol.4
, pp. 186-197
-
-
Brooke, M.1
Griggs, R.2
Mendell, J.3
Fenichel, G.4
Shumate, J.5
Pellegrino, R.6
-
27
-
-
0029738607
-
Development of an upper extremity outcome measure: the DASH (disabilities of the arm, shoulder and hand) [corrected]. The Upper Extremity Collaborative Group (UECG)
-
Erratum in: Am J Ind Med 1996;30:372.
-
Hudak PL, Amadio PC, Bombardier C. Development of an upper extremity outcome measure: the DASH (disabilities of the arm, shoulder and hand) [corrected]. The Upper Extremity Collaborative Group (UECG). Am J Ind Med 1996;29:602-608. Erratum in: Am J Ind Med 1996;30:372.
-
(1996)
Am J Ind Med
, vol.29
, pp. 602-608
-
-
Hudak, P.L.1
Amadio, P.C.2
Bombardier, C.3
-
28
-
-
0028280848
-
Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group
-
Tawil R, McDermott MP, Mendell JR, Kissel J, Griggs RC. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology 1994;44(3 Pt 1):442-446.
-
(1994)
Neurology
, vol.44
, Issue.3
, pp. 442-446
-
-
Tawil, R.1
McDermott, M.P.2
Mendell, J.R.3
Kissel, J.4
Griggs, R.C.5
|