-
1
-
-
58149380149
-
Diagnosis of glycogenosis type II
-
Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology 2008; 71(23 Suppl. 2): S4-S11.
-
(2008)
Neurology
, vol.71
, Issue.23
, pp. S4-S11
-
-
Bembi, B.1
Cerini, E.2
Danesino, C.3
-
2
-
-
33748413905
-
Autophagy and lysosomes in Pompe disease
-
Fukuda T, Roberts A, Ahearn M, et al. Autophagy and lysosomes in Pompe disease. Autophagy 2006; 2: 318-320.
-
(2006)
Autophagy
, vol.2
, pp. 318-320
-
-
Fukuda, T.1
Roberts, A.2
Ahearn, M.3
-
3
-
-
34548613865
-
Role of autophagy in the pathogenesis of Pompe disease
-
Raben N, Roberts A, Plotz PH. Role of autophagy in the pathogenesis of Pompe disease. Acta Myol 2007; 26: 45-48.
-
(2007)
Acta Myol
, vol.26
, pp. 45-48
-
-
Raben, N.1
Roberts, A.2
Plotz, P.H.3
-
5
-
-
79957630509
-
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
-
Gungor D, de Vries JM, Hop WC, et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis 2011; 6: 34.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 34
-
-
Gungor, D.1
de Vries, J.M.2
Hop, W.C.3
-
6
-
-
60749102886
-
Pompe disease: a neuromuscular disease with respiratory muscle involvement
-
Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med 2009; 103: 477-484.
-
(2009)
Respir Med
, vol.103
, pp. 477-484
-
-
Mellies, U.1
Lofaso, F.2
-
7
-
-
33745918604
-
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy
-
van der Beek NA, Hagemans ML, van der Ploeg AT, et al. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol Belg 2006; 106: 82-86.
-
(2006)
Acta Neurol Belg
, vol.106
, pp. 82-86
-
-
van der Beek, N.A.1
Hagemans, M.L.2
van der Ploeg, A.T.3
-
9
-
-
34548432590
-
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
-
Müller-Felber W, Horvath R, Gempel K, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007; 17: 698-706.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 698-706
-
-
Müller-Felber, W.1
Horvath, R.2
Gempel, K.3
-
10
-
-
21144449402
-
Disease severity in children and adults with Pompe disease related to age and disease duration
-
Hagemans ML, Winkel LP, Hop WC, et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2005; 64: 2139-2141.
-
(2005)
Neurology
, vol.64
, pp. 2139-2141
-
-
Hagemans, M.L.1
Winkel, L.P.2
Hop, W.C.3
-
11
-
-
34547653869
-
Fatigue: an important feature of late-onset Pompe disease
-
Hagemans ML, van Schie SP, Janssens AC, et al. Fatigue: an important feature of late-onset Pompe disease. J Neurol 2007; 254: 941-945.
-
(2007)
J Neurol
, vol.254
, pp. 941-945
-
-
Hagemans, M.L.1
van Schie, S.P.2
Janssens, A.C.3
-
12
-
-
77949905142
-
Fatigue in neuromuscular disorders: focus on Guillain-Barre syndrome and Pompe disease
-
de Vries JM, Hagemans ML, Bussmann JB, et al. Fatigue in neuromuscular disorders: focus on Guillain-Barre syndrome and Pompe disease. Cell Mol Life Sci 2010; 67: 701-713.
-
(2010)
Cell Mol Life Sci
, vol.67
, pp. 701-713
-
-
de Vries, J.M.1
Hagemans, M.L.2
Bussmann, J.B.3
-
13
-
-
77953722070
-
Clinical complaints of daytime sleepiness and fatigue: how to distinguish and treat them, especially when they become 'excessive' or 'chronic'?
-
Neu D, Linkowski P, le Bon O. Clinical complaints of daytime sleepiness and fatigue: how to distinguish and treat them, especially when they become 'excessive' or 'chronic'? Acta Neurol Belg 2010; 110: 15-25.
-
(2010)
Acta Neurol Belg
, vol.110
, pp. 15-25
-
-
Neu, D.1
Linkowski, P.2
le Bon, O.3
-
14
-
-
77949776595
-
Do 'sleepy' and 'tired' go together? Rasch analysis of the relationships between sleepiness, fatigue and nonrestorative sleep complaints in a nonclinical population sample
-
Neu D, Mairesse O, Hoffmann G, et al. Do 'sleepy' and 'tired' go together? Rasch analysis of the relationships between sleepiness, fatigue and nonrestorative sleep complaints in a nonclinical population sample. Neuroepidemiology 2010; 35: 1-11.
-
(2010)
Neuroepidemiology
, vol.35
, pp. 1-11
-
-
Neu, D.1
Mairesse, O.2
Hoffmann, G.3
-
15
-
-
0035833919
-
Sleep-disordered breathing and respiratory failure in acid maltase deficiency
-
Mellies U, Ragette R, Schwake C, et al. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001; 57: 1290-1295.
-
(2001)
Neurology
, vol.57
, pp. 1290-1295
-
-
Mellies, U.1
Ragette, R.2
Schwake, C.3
-
16
-
-
0024389366
-
The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research
-
Buysse DJ, Reynolds CF III, Monk TH, et al. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res 1989; 28: 193-213.
-
(1989)
Psychiatry Res
, vol.28
, pp. 193-213
-
-
Buysse, D.J.1
Reynolds III, C.F.2
Monk, T.H.3
-
17
-
-
0036745593
-
Test-retest reliability and validity of the Pittsburgh Sleep Quality Index in primary insomnia
-
Backhaus J, Junghanns K, Broocks A, et al. Test-retest reliability and validity of the Pittsburgh Sleep Quality Index in primary insomnia. J Psychosom Res 2002; 53: 737-740.
-
(2002)
J Psychosom Res
, vol.53
, pp. 737-740
-
-
Backhaus, J.1
Junghanns, K.2
Broocks, A.3
-
18
-
-
0026333617
-
A new method for measuring daytime sleepiness: the Epworth sleepiness scale
-
Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991; 14: 540-545.
-
(1991)
Sleep
, vol.14
, pp. 540-545
-
-
Johns, M.W.1
-
19
-
-
0024420189
-
The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus
-
Krupp LB, LaRocca NG, Muir-Nash J, et al. The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 1989; 46: 1121-1123.
-
(1989)
Arch Neurol
, vol.46
, pp. 1121-1123
-
-
Krupp, L.B.1
LaRocca, N.G.2
Muir-Nash, J.3
-
20
-
-
0026877917
-
The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection
-
Ware JE Jr, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 1992; 30: 473-483.
-
(1992)
Med Care
, vol.30
, pp. 473-483
-
-
Ware, J.E.1
Sherbourne, C.D.2
-
21
-
-
0036199826
-
Psychometric evaluation of a new handicap scale in immune-mediated polyneuropathies
-
Merkies IS, Schmitz PI, Van Der Meche FG, et al. Psychometric evaluation of a new handicap scale in immune-mediated polyneuropathies. Muscle Nerve 2002; 25: 370-377.
-
(2002)
Muscle Nerve
, vol.25
, pp. 370-377
-
-
Merkies, I.S.1
Schmitz, P.I.2
Van Der Meche, F.G.3
-
22
-
-
84860912447
-
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy
-
Angelini C, Semplicini C, Ravaglia S, et al. New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. Muscle Nerve 2012; 45: 831-834.
-
(2012)
Muscle Nerve
, vol.45
, pp. 831-834
-
-
Angelini, C.1
Semplicini, C.2
Ravaglia, S.3
-
23
-
-
79953670867
-
Screening for sleep-disordered breathing in neuromuscular disease using a questionnaire for symptoms associated with diaphragm paralysis
-
Steier J, Jolley CJ, Seymour J, et al. Screening for sleep-disordered breathing in neuromuscular disease using a questionnaire for symptoms associated with diaphragm paralysis. Eur Respir J 2011; 37: 400-405.
-
(2011)
Eur Respir J
, vol.37
, pp. 400-405
-
-
Steier, J.1
Jolley, C.J.2
Seymour, J.3
-
25
-
-
17244376825
-
Fatigue in the general population: a translation and test of the psychometric properties of the Norwegian version of the fatigue severity scale
-
Lerdal A, Wahl A, Rustoen T, et al. Fatigue in the general population: a translation and test of the psychometric properties of the Norwegian version of the fatigue severity scale. Scand J Public Health 2005; 33: 123-130.
-
(2005)
Scand J Public Health
, vol.33
, pp. 123-130
-
-
Lerdal, A.1
Wahl, A.2
Rustoen, T.3
-
26
-
-
8644273315
-
Late-onset Pompe disease primarily affects quality of life in physical health domains
-
Hagemans ML, Janssens AC, Winkel LP, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004; 63: 1688-1692.
-
(2004)
Neurology
, vol.63
, pp. 1688-1692
-
-
Hagemans, M.L.1
Janssens, A.C.2
Winkel, L.P.3
-
27
-
-
34250313111
-
Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale
-
Hagemans ML, Laforet P, Hop WJ, et al. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord 2007; 17: 537-543.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 537-543
-
-
Hagemans, M.L.1
Laforet, P.2
Hop, W.J.3
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