-
1
-
-
2942534211
-
Energy transfer from astrocytes to axons: The role of CNS glycogen
-
DOI 10.1016/j.neuint.2003.11.005, PII S0197018603002584, Role of Non-synaptic Communication in Information Processing
-
Brown AM, Baltan Tekkök S, Ransom BR (2004) Energy transfer from astrocytes to axons: The role of CNS glycogen. Neurochem Int 45:529-536. (Pubitemid 38739480)
-
(2004)
Neurochemistry International
, vol.45
, Issue.4
, pp. 529-536
-
-
Brown, A.M.1
Tekkok, S.B.2
Ransom, B.R.3
-
2
-
-
35548995067
-
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy
-
DOI 10.1038/nn1998, PII NN1998
-
Vilchez D, et al. (2007) Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. Nat Neurosci 10:1407-1413. (Pubitemid 350014686)
-
(2007)
Nature Neuroscience
, vol.10
, Issue.11
, pp. 1407-1413
-
-
Vilchez, D.1
Ros, S.2
Cifuentes, D.3
Pujadas, L.4
Valles, J.5
Garcia-Fojeda, B.6
Criado-Garcia, O.7
Fernandez-Sanchez, E.8
Medrao-Fernandez, I.9
Dominguez, J.10
Garcia-Rocha, M.11
Soriano, E.12
Rodriguez De Cordoba, S.13
Guinovart, J.J.14
-
3
-
-
52249123294
-
Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice
-
Sidman RL, et al. (2008) Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice. J Neuropathol Exp Neurol 67:803-818.
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 803-818
-
-
Sidman, R.L.1
-
4
-
-
0000995321
-
Glycogen storage disease type II; acid α-glucosidase (acid maltase) deficiency
-
eds Scriver CR, Beaudet AL, Sly WS, Valle D (McGraw-Hill, New York), 8th Ed, Chapter 135
-
Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II; acid α-glucosidase (acid maltase) deficiency. In: The Metabolic and Molecular Basis of Inherited Disease, eds Scriver CR, Beaudet AL, Sly WS, Valle D (McGraw-Hill, New York), 8th Ed, Chapter 135.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
-
-
Hirschhorn, R.1
Reuser, A.J.J.2
-
5
-
-
0002079610
-
Tissue fractionation studies. 16. Intracellular distribution and properties of alpha-glucosidases in rat liver
-
Lejeune N, Thines-Sempoux D, HersHG(1963) Tissue fractionation studies. 16. Intracellular distribution and properties of alpha-glucosidases in rat liver. Biochem J 86:16-21.
-
(1963)
Biochem J
, vol.86
, pp. 16-21
-
-
Lejeune, N.1
Thines-Sempoux, D.2
Hers, H.G.3
-
6
-
-
0014952621
-
Studies of lysosomal alpha-glucosidase. I. Purification and properties of the rat liver enzyme
-
Jeffrey PL, Brown DH, Brown BI (1970) Studies of lysosomal alpha-glucosidase. I. Purification and properties of the rat liver enzyme Biochemistry 9:1403-1415.
-
(1970)
Biochemistry
, vol.9
, pp. 1403-1415
-
-
Jeffrey, P.L.1
Brown, D.H.2
Brown, B.I.3
-
7
-
-
53249145658
-
Therapeutic approaches in glycogen storage disease type II/Pompe Disease
-
Schoser B, Hill V, Raben N (2008) Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics 5:569-578.
-
(2008)
Neurotherapeutics
, vol.5
, pp. 569-578
-
-
Schoser, B.1
Hill, V.2
Raben, N.3
-
8
-
-
0036086765
-
Correction of the enzymatic and functional deficits in a model of Pompe disease by using adeno-associated virus vectors
-
Raben N, Plotz P, Byrne BJ (2002) Correction of the enzymatic and functional deficits in a model of Pompe disease by using adeno-associated virus vectors. Curr Mol Med 2:145-166.
-
(2002)
Curr Mol Med
, vol.2
, pp. 145-166
-
-
Raben, N.1
Plotz, P.2
Byrne, B.J.3
-
9
-
-
3242668008
-
Infantile-onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings
-
Teng YT, Su WJ, Hou JW, Huang SF (2004) Infantile-onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings. Chang Gung Med J 27:379-384. (Pubitemid 38943579)
-
(2004)
Chang Gung Medical Journal
, vol.27
, Issue.5
, pp. 379-384
-
-
Teng, Y.-T.1
Su, W.-J.2
Hou, J.-W.3
Huang, S.-F.4
-
11
-
-
0015929582
-
Pompe's disease: An inborn lysosomal disorder with storage of glycogen.Astudy of brain and striated muscle
-
Martin JJ, de Barsy T, van Hoof F, Palladini G (1973) Pompe's disease: An inborn lysosomal disorder with storage of glycogen.Astudy of brain and striated muscle. Acta Neuropathol (Berl) 23:229-244.
-
(1973)
Acta Neuropathol (Berl)
, vol.23
, pp. 229-244
-
-
Martin, J.J.1
De Barsy, T.2
Van Hoof, F.3
Palladini, G.4
-
12
-
-
0015093712
-
Nervous system in Pompe's disease. Ultrastructure and biochemistry
-
Gambetti P, DiMauro S, Baker L (1971) Nervous system in Pompe's disease. Ultrastructure and biochemistry. J Neuropathol Exp Neurol 30:412-430.
-
(1971)
J Neuropathol Exp Neurol
, vol.30
, pp. 412-430
-
-
Gambetti, P.1
DiMauro, S.2
Baker, L.3
-
13
-
-
0035845610
-
Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2
-
Martini C, et al. (2001) Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurology 57:906-908. (Pubitemid 32845520)
-
(2001)
Neurology
, vol.57
, Issue.5
, pp. 906-908
-
-
Martini, C.1
Ciana, G.2
Benettoni, A.3
Katouzian, F.4
Severini, G.M.5
Bussani, R.6
Bembi, B.7
-
14
-
-
33747609102
-
Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
-
DOI 10.1203/01.pdr.0000233014.84318.4e, PII 0000645020060900000020
-
Chien YH, Lee NC, Peng SF, Hwu WL(2006) Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. Pediatr Res 60:349-352. (Pubitemid 44267751)
-
(2006)
Pediatric Research
, vol.60
, Issue.3
, pp. 349-352
-
-
Chien, Y.-H.1
Lee, N.-C.2
Peng, S.-F.3
Hwu, W.-L.4
-
16
-
-
23944445667
-
The natural course of non-classic Pompe's disease; a review of 225 published cases
-
DOI 10.1007/s00415-005-0922-9
-
Winkel LP, et al. (2005) The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol 252:875-884. (Pubitemid 41186956)
-
(2005)
Journal of Neurology
, vol.252
, Issue.8
, pp. 875-884
-
-
Winkel, L.P.F.1
Hagemans, M.L.C.2
Van Doorn, P.A.3
Loonen, M.C.B.4
Hop, W.J.C.5
Reuser, A.J.J.6
Van Der Ploeg, A.T.7
-
17
-
-
0032519686
-
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail
-
Kikuchi T, et al. (1998) Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest 101:827-833. (Pubitemid 28096080)
-
(1998)
Journal of Clinical Investigation
, vol.101
, Issue.4
, pp. 827-833
-
-
Kikuchi, T.1
Yang, H.W.2
Pennybacker, M.3
Ichihara, N.4
Mizutani, M.5
Van Hove, J.L.K.6
Chen, Y.-T.7
-
18
-
-
0034772350
-
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: Implications for therapy
-
Raben N, et al. (2001) Conditional tissue-specific expression of the acid alphaglucosidase (GAA) gene in the GAA knockout mice: Implications for therapy. Hum Mol Genet 10:2039-2047. (Pubitemid 32998816)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.19
, pp. 2039-2047
-
-
Raben, N.1
Lu, N.2
Nagaraju, K.3
Rivera, Y.4
Lee, A.5
Yan, B.6
Byrne, B.7
Meikle, P.J.8
Umapathysivam, K.9
Hopwood, J.J.10
Plotz, P.H.11
-
19
-
-
14444274334
-
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II
-
DOI 10.1074/jbc.273.30.19086
-
Raben N, et al. (1998) Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J Biol Chem 273:19086-19092. (Pubitemid 28366303)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.30
, pp. 19086-19092
-
-
Raben, N.1
Nagaraju, K.2
Lee, E.3
Kessler, P.4
Byrne, B.5
Lee, L.6
Lamarca, M.7
King, C.8
Ward, J.9
Sauer, B.10
Plotz, P.11
-
20
-
-
0026584941
-
Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: Serial echocardiographic studies from birth to death at 6 months
-
Seifert BL, et al. (1992) Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: Serial echocardiographic studies from birth to death at 6 months. Am Heart J 123:239-242.
-
(1992)
Am Heart J
, vol.123
, pp. 239-242
-
-
Seifert, B.L.1
-
21
-
-
0028105695
-
Differential control of ventilation among inbred strains of mice
-
Tankersley CG, Fitzgerald RS, Kleeberger SR (1994) Differential control of ventilation among inbred strains of mice. Am J Physiol 267:R1371-R1377. (Pubitemid 2164529)
-
(1994)
AM.J.PHYSIOL.
, vol.267
, Issue.5 PART 2
-
-
Tankersley, C.G.1
Fitzgerald, R.S.2
Kleeberger, S.R.3
-
22
-
-
0030777698
-
Mutant mice and neuroscience: Recommendations concerning genetic background; Banbury conference on genetic background in mice
-
Silva AJ, et al. (1997) Mutant mice and neuroscience: Recommendations concerning genetic background; Banbury conference on genetic background in mice. Neuron 19:755-759.
-
(1997)
Neuron
, vol.19
, pp. 755-759
-
-
Silva, A.J.1
-
23
-
-
0032408743
-
Whole-body plethysmography, does it measure tidal volume of small animals?
-
Enhorning G, van Schaik S, Lundgren C, Vargas I (1998) Whole-body plethysmography, does it measure tidal volume of small animals? Can J Physiol Pharmacol 76:945-951. (Pubitemid 29157543)
-
(1998)
Canadian Journal of Physiology and Pharmacology
, vol.76
, Issue.10-11
, pp. 945-951
-
-
Enhorning, G.1
Van Schaik, S.2
Lundgren, C.3
Vargas, I.4
-
24
-
-
0032423056
-
On the barometric method for measurements of ventilation, and its use in small animals
-
Mortola JP, Frappell PB (1998) On the barometric method for measurements of ventilation, and its use in small animals. Can J Physiol Pharmacol 76:937-944. (Pubitemid 29157542)
-
(1998)
Canadian Journal of Physiology and Pharmacology
, vol.76
, Issue.10-11
, pp. 937-944
-
-
Mortola, J.P.1
Frappell, P.B.2
-
25
-
-
0034668801
-
Episodic but not continuous hypoxia elicits long-term facilitation of phrenic motor output in rats
-
Baker TL, Mitchell GS (2000) Episodic but not continuous hypoxia elicits long-term facilitation of phrenic motor output in rats. J Physiol 529(Pt 1):215-219.
-
(2000)
J Physiol
, vol.529
, Issue.PART 1
, pp. 215-219
-
-
Baker, T.L.1
Mitchell, G.S.2
-
26
-
-
17644386858
-
Episodic hypoxia induces long-term facilitation of neural drive to tongue protrudor and retractor muscles
-
DOI 10.1152/japplphysiol.01142.2004
-
Fuller DD (2005) Episodic hypoxia induces long-term facilitation of neural drive to tongue protrudor and retractor muscles. J Appl Physiol 98:1761-1767. (Pubitemid 40570787)
-
(2005)
Journal of Applied Physiology
, vol.98
, Issue.5
, pp. 1761-1767
-
-
Fuller, D.D.1
-
27
-
-
0016776487
-
Relationship between respiratory nerve and muscle activity and muscle force output
-
Eldridge FL (1975) Relationship between respiratory nerve and muscle activity and muscle force output. J Appl Physiol 39:567-574.
-
(1975)
J Appl Physiol
, vol.39
, pp. 567-574
-
-
Eldridge, F.L.1
-
28
-
-
2942702696
-
Functional significance of cell size in spinal motoneurons
-
Henneman E, Somjen G, Carpenter DO (1965) Functional significance of cell size in spinal motoneurons. J Neurophysiol 28:560-580.
-
(1965)
J Neurophysiol
, vol.28
, pp. 560-580
-
-
Henneman, E.1
Somjen, G.2
Carpenter, D.O.3
-
29
-
-
0025282972
-
Phrenic afferents and ventilatory control
-
Road JD (1990) Phrenic afferents and ventilatory control. Lung 168:137-149. (Pubitemid 20175221)
-
(1990)
Lung
, vol.168
, Issue.3
, pp. 137-149
-
-
Road, J.D.1
-
31
-
-
0025134167
-
Responses of inspiratory neurons of the dorsal respiratory group to stimulation of expiratory muscle and vagal afferents
-
DOI 10.1016/0006-8993(90)90283-H
-
Iscoe S, Grélot L, Bianchi AL (1990) Responses of inspiratory neurons of the dorsal respiratory group to stimulation of expiratory muscle and vagal afferents. Brain Res 507:281-288. (Pubitemid 20054110)
-
(1990)
Brain Research
, vol.507
, Issue.2
, pp. 281-288
-
-
Iscoe, S.1
Grelot, L.2
Bianchi, A.L.3
-
32
-
-
0038042272
-
Serotonin 1A receptor agonists reverse respiratory abnormalities in spinal cord-injured rats
-
Teng YD, et al. (2003) Serotonin 1A receptor agonists reverse respiratory abnormalities in spinal cord-injured rats. J Neurosci 23:4182-4189. (Pubitemid 36958438)
-
(2003)
Journal of Neuroscience
, vol.23
, Issue.10
, pp. 4182-4189
-
-
Teng, Y.D.1
Bingaman, M.2
Taveira-DaSilva, A.M.3
Pace, P.P.4
Gillis, R.A.5
Wrathall, J.R.6
-
33
-
-
67249143622
-
Glycogen disease of skeletal muscle; report of two cases and review of literature
-
Zellweger H, Dark A, Abu-HaidarGA(1955) Glycogen disease of skeletal muscle; report of two cases and review of literature. Pediatrics 5:715-732.
-
(1955)
Pediatrics
, vol.5
, pp. 715-732
-
-
Zellweger, H.1
Dark, A.2
Abu-Haidar, G.A.3
-
34
-
-
0032513919
-
Drie hypotone zuigelingen met een hypertrofische cardiomyopathie: De ziekte van Pompe
-
Willemsen MA, Jira PE, Gabreels FJ, van der Ploeg AT, Smeitink JA (1998) Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease. Ned Tijdschr Geneeskd 142:1388-1392. (Pubitemid 28302871)
-
(1998)
Nederlands Tijdschrift Voor Geneeskunde
, vol.142
, Issue.24
, pp. 1388-1392
-
-
Willemsen, M.A.A.P.1
Jira, P.E.2
Gabreels, F.J.M.3
Van Der Ploeg, A.T.4
Smeitink, J.A.M.5
-
35
-
-
3242668008
-
Infantile-onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings
-
Teng YT, Su WJ,Hou JW, Huang SF (2004) Infantile-onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings. Chang Gung Med J 27:379-384. (Pubitemid 38943579)
-
(2004)
Chang Gung Medical Journal
, vol.27
, Issue.5
, pp. 379-384
-
-
Teng, Y.-T.1
Su, W.-J.2
Hou, J.-W.3
Huang, S.-F.4
-
36
-
-
0042190104
-
Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature
-
Clement DH, Godman GC (1950) Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature. J Pediatr 36:11-30.
-
(1950)
J Pediatr
, vol.36
, pp. 11-30
-
-
Clement, D.H.1
Godman, G.C.2
-
37
-
-
0032900369
-
Murine acid alpha-glucosidase. Cell-specific mRNA differential expression during development and maturation
-
Ponce E, Witte DP, Hirschhorn R, Huie ML, Grabowski GA (1999) Murine acid alphaglucosidase: Cell-specific mRNA differential expression during development and maturation. Am J Pathol 154:1089-1096. (Pubitemid 29169743)
-
(1999)
American Journal of Pathology
, vol.154
, Issue.4
, pp. 1089-1096
-
-
Ponce, E.1
Witte, D.P.2
Hirschhorn, R.3
Huie, M.L.4
Grabowski, G.A.5
-
38
-
-
0033561365
-
Hes1 and Hes5 as notch effectors in mammalian neuronal differentiation. Hes1 and Hes5 as notch effectors in mammalian neuronal differentiation
-
Ohtsuka T, et al. (1999) Hes1 and Hes5 as notch effectors in mammalian neuronal differentiation. Hes1 and Hes5 as notch effectors in mammalian neuronal differentiation. EMBO J 18:2196-2207.
-
(1999)
EMBO J
, vol.18
, pp. 2196-2207
-
-
Ohtsuka, T.1
-
39
-
-
0142089744
-
Enzyme replacement therapy in the mouse model of Pompe disease
-
DOI 10.1016/j.ymgme.2003.08.022
-
Raben N, et al. (2003) Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 80:159-169. (Pubitemid 37272242)
-
(2003)
Molecular Genetics and Metabolism
, vol.80
, Issue.1-2
, pp. 159-169
-
-
Raben, N.1
Danon, M.2
Gilbert, A.L.3
Dwivedi, S.4
Collins, B.5
Thurberg, B.L.6
Mattaliano, R.J.7
Nagaraju, K.8
Plotz, P.H.9
-
40
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
Vanden Hout JM, et al. (2004) Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113:e448-e457.
-
(2004)
Pediatrics
, vol.113
-
-
Vanden Hout, J.M.1
-
41
-
-
12144287218
-
Enzyme Replacement Therapy in Late-Onset Pompe's Disease: A Three-Year Follow-up
-
DOI 10.1002/ana.20019
-
Winkel LP, et al. (2004) Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up. Ann Neurol 55:495-502. (Pubitemid 38391966)
-
(2004)
Annals of Neurology
, vol.55
, Issue.4
, pp. 495-502
-
-
Winkel, L.P.F.1
Van Den Hout, J.M.P.2
Kamphoven, J.H.J.3
Disseldorp, J.A.M.4
Remmerswaal, M.5
Arts, W.F.M.6
Loonen, M.C.B.7
Vulto, A.G.8
Van Doorn, P.A.9
De Jong, G.10
Hop, W.11
Smit, G.P.A.12
Shapira, S.K.13
Boer, M.A.14
Van Diggelen, O.P.15
Reuser, A.J.J.16
Van Der Ploeg, A.T.17
-
42
-
-
45449088878
-
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease
-
van Capelle CI, et al. (2008) Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord 18:447-452.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 447-452
-
-
Van Capelle, C.I.1
-
43
-
-
33947198645
-
New therapeutic options for lysosomal storage disorders: Enzyme replacement, small molecules and gene therapy
-
DOI 10.1007/s00439-006-0280-4
-
Beck M (2007) New therapeutic options for lysosomal storage disorders: Enzyme replacement, small molecules and gene therapy. Hum Genet 121:1-22. (Pubitemid 46421136)
-
(2007)
Human Genetics
, vol.121
, Issue.1
, pp. 1-22
-
-
Beck, M.1
-
44
-
-
52049099117
-
Respiratory neuroplasticity and cervical spinal cord injury: Translational perspectives
-
Lane MA, Fuller DD, White TE, Reier PJ (2008) Respiratory neuroplasticity and cervical spinal cord injury: Translational perspectives. Trends Neurosci 31:538-547.
-
(2008)
Trends Neurosci
, vol.31
, pp. 538-547
-
-
Lane, M.A.1
Fuller, D.D.2
White, T.E.3
Reier, P.J.4
-
45
-
-
33847206112
-
Physiological correction of pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors
-
DOI 10.1038/sj.mt.6300100, PII 6300100
-
Mah C, et al. (2007) Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors. Mol Ther 15:501-507. (Pubitemid 46306592)
-
(2007)
Molecular Therapy
, vol.15
, Issue.3
, pp. 501-507
-
-
Mah, C.1
Pacak, C.A.2
Cresawn, K.O.3
Deruisseau, L.R.4
Germain, S.5
Lewis, M.A.6
Cloutier, D.A.7
Fuller, D.D.8
Byrne, B.J.9
-
46
-
-
0014738371
-
Determination of glycogen in small tissue samples
-
Lo S, Russell JC, Taylor AW (1970) Determination of glycogen in small tissue samples. J Appl Physiol 28:234-236.
-
(1970)
J Appl Physiol
, vol.28
, pp. 234-236
-
-
Lo, S.1
Russell, J.C.2
Taylor, A.W.3
-
47
-
-
0014378776
-
A correlated histochemical and quantitative study on cerebral glycogen after brain injury in the rat
-
Guth L, Watson PK (1968) A correlated histochemical and quantitative study on cerebral glycogen after brain injury in the rat. Exp Neurol 22:590-602.
-
(1968)
Exp Neurol
, vol.22
, pp. 590-602
-
-
Guth, L.1
Watson, P.K.2
-
48
-
-
0006495387
-
Basic fibroblast growth factor increases long-term survival of spinal motor neurons and improves respiratory function after experimental spinal cord injury
-
Teng YD, Mocchetti I, Taveira-DaSilva AM, Gillis RA, Wrathall JR (1999) Basic fibroblast growth factor increases long-term survival of spinal motor neurons and improves respiratory function after experimental spinal cord injury. J Neurosci 19:7037-7047. (Pubitemid 29380129)
-
(1999)
Journal of Neuroscience
, vol.19
, Issue.16
, pp. 7037-7047
-
-
Teng, Y.D.1
Mocchetti, I.2
Taveira-DaSilva, A.M.3
Gillis, R.A.4
Wrathall, J.R.5
|