-
1
-
-
71849103775
-
Are cerebral creatine deficiency syndromes on the radar screen?
-
Almeida, L.S., Rosenberg, E.H., Verhoeven, N.M., Jakobs, C., and Salomons, G.S., 2006a, Are cerebral creatine deficiency syndromes on the radar screen? Future Neurol. 1: 637-649.
-
(2006)
Future Neurol.
, vol.1
, pp. 637-649
-
-
Almeida, L.S.1
Rosenberg, E.H.2
Verhoeven, N.M.3
Jakobs, C.4
Salomons, G.S.5
-
2
-
-
33745033499
-
Exocytotic release of creatine in rat brain
-
Almeida, L.S., Salomons, G.S., Hogenboom, F., Jakobs, C., and Schoffelmeer, A.N., 2006b, Exocytotic release of creatine in rat brain. Synapse 60: 118-123.
-
(2006)
Synapse
, vol.60
, pp. 118-123
-
-
Almeida, L.S.1
Salomons, G.S.2
Hogenboom, F.3
Jakobs, C.4
Schoffelmeer, A.N.5
-
3
-
-
3242725272
-
Creatine and guanidinoacetate: Diagnostic markers for inborn errors in creatine biosynthesis and transport
-
Almeida, L.S., Verhoeven, N.M., Roos, B., Valongo, C., Cardoso, M.L., Vilarinho, L., Salomons, G.S., and Jakobs, C., 2004, Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol. Genet. Metab. 82: 214-219.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 214-219
-
-
Almeida, L.S.1
Verhoeven, N.M.2
Roos, B.3
Valongo, C.4
Cardoso, M.L.5
Vilarinho, L.6
Salomons, G.S.7
Jakobs, C.8
-
4
-
-
34047254531
-
A prevalent pathogenic GAMT mutation (c.59G > C) in Portugal
-
Almeida, L.S., Vilarinho, L., Darmin, P.S., Rosenberg, E.H., Martinez-Munoz, C., Jakobs, C., and Salomons, G.S., 2007, A prevalent pathogenic GAMT mutation (c.59G > C) in Portugal. Mol. Genet. Metab. 91: 1-6.
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 1-6
-
-
Almeida, L.S.1
Vilarinho, L.2
Darmin, P.S.3
Rosenberg, E.H.4
Martinez-Munoz, C.5
Jakobs, C.6
Salomons, G.S.7
-
5
-
-
33645678077
-
X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
-
Anselm, I.A., Alkuraya, F.S., Salomons, G.S., Jakobs, C., Fulton, A.B., Mazumdar, M., Rivkin, M., Frye, R., Poussaint, T.Y., and Marsden, D., 2006, X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J. Inherit. Metab. Dis. 29: 214-219.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 214-219
-
-
Anselm, I.A.1
Alkuraya, F.S.2
Salomons, G.S.3
Jakobs, C.4
Fulton, A.B.5
Mazumdar, M.6
Rivkin, M.7
Frye, R.8
Poussaint, T.Y.9
Marsden, D.10
-
6
-
-
33745016252
-
Arginine:Glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease
-
Battini, R., Alessandri, M.G., Leuzzi, V., Moro, F., Tosetti, M., Bianchi, M.C., and Cioni, G., 2006, Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J. Pediatr. 148: 828-830.
-
(2006)
J. Pediatr.
, vol.148
, pp. 828-830
-
-
Battini, R.1
Alessandri, M.G.2
Leuzzi, V.3
Moro, F.4
Tosetti, M.5
Bianchi, M.C.6
Cioni, G.7
-
7
-
-
12244277899
-
Creatine depletion in a new case with AGAT deficiency: Clinical and genetic study in a large pedigree
-
Battini, R., Leuzzi, V., Carducci, C., Tosetti, M., Bianchi, M.C., Item, C.B., Stöckler-Ipsiroglu, S., and Cioni, G., 2002, Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol. Genet. Metab. 77: 326-331.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 326-331
-
-
Battini, R.1
Leuzzi, V.2
Carducci, C.3
Tosetti, M.4
Bianchi, M.C.5
Item, C.B.6
Stöckler-Ipsiroglu, S.7
Cioni, G.8
-
8
-
-
0034077740
-
Reversible brain creatine deficiency in two sisters with normal blood creatine level
-
Bianchi, M.C., Tosetti, M., Fornai, F., Alessandri', M.G., Cipriani, P., De, V.G., and Canapicchi, R., 2000, Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann. Neurol. 47: 511-513.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 511-513
-
-
Bianchi, M.C.1
Tosetti, M.2
Fornai, F.3
Alessandri', M.G.4
Cipriani, P.5
De, V.G.6
Canapicchi, R.7
-
9
-
-
0035977693
-
Endogenous synthesis and transport of creatine in the rat brain: An in situ hybridization study
-
Braissant, O., Henry, H., Loup, M., Eilers, B., and Bachmann, C., 2001, Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Brain Res. Mol. Brain Res. 86: 193-201.
-
(2001)
Brain Res. Mol. Brain Res.
, vol.86
, pp. 193-201
-
-
Braissant, O.1
Henry, H.2
Loup, M.3
Eilers, B.4
Bachmann, C.5
-
10
-
-
0037112067
-
Ammonium-induced impairment of axonal growth is prevented through glial creatine
-
Braissant, O., Henry, H., Villard, A.M., Zurich, M.G., Loup, M., Eilers, B., Parlascino, G., Matter, E., Boulat, O., Honegger, P., and Bachmann, C., 2002, Ammonium-induced impairment of axonal growth is prevented through glial creatine. J. Neurosci. 22: 9810-9820.
-
(2002)
J. Neurosci.
, vol.22
, pp. 9810-9820
-
-
Braissant, O.1
Henry, H.2
Villard, A.M.3
Zurich, M.G.4
Loup, M.5
Eilers, B.6
Parlascino, G.7
Matter, E.8
Boulat, O.9
Honegger, P.10
Bachmann, C.11
-
11
-
-
23044475041
-
Creatine synthesis and transport during rat embryogenesis: Spatiotemporal expression of AGAT, GAMT and CT1
-
Braissant, O., Henry, H., Villard, A.M., Speer, O., Wallimann, T., and Bachmann, C., 2005, Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. BMC Dev. Biol. 5: 9.
-
(2005)
BMC Dev. Biol.
, vol.5
, pp. 9
-
-
Braissant, O.1
Henry, H.2
Villard, A.M.3
Speer, O.4
Wallimann, T.5
Bachmann, C.6
-
12
-
-
36049036264
-
Expression and function of AGAT, GAMT and CT1 in the mammalian brain
-
Braissant, O., Bachmann, C., and Henry, H., 2007, Expression and function of AGAT, GAMT and CT1 in the mammalian brain. Subcell. Biochem. 46: 67-81.
-
(2007)
Subcell. Biochem.
, vol.46
, pp. 67-81
-
-
Braissant, O.1
Bachmann, C.2
Henry, H.3
-
13
-
-
0034006323
-
Protective effect of the energy precursor creatine against toxicity of glutamate and beta-amyloid in rat hippocampal neurons
-
Brewer, G.J., and Wallimann, T.W., 2000, Protective effect of the energy precursor creatine against toxicity of glutamate and beta-amyloid in rat hippocampal neurons. J. Neurochem. 74: 1968-1978.
-
(2000)
J. Neurochem.
, vol.74
, pp. 1968-1978
-
-
Brewer, G.J.1
Wallimann, T.W.2
-
14
-
-
0035098030
-
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
-
Cecil, K.M., Salomons, G.S., Ball, W.S., Jr., Wong, B., Chuck, G., Verhoeven, N.M., Jakobs, C., and Degrauw, T.J., 2001, Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann. Neurol. 49: 401-404.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 401-404
-
-
Cecil, K.M.1
Salomons, G.S.2
Ball, W.S.3
Wong, B.4
Chuck, G.5
Verhoeven, N.M.6
Jakobs, C.7
Degrauw, T.J.8
-
15
-
-
44949160100
-
Functional insights into the creatine transporter
-
Christie, D.L., 2007, Functional insights into the creatine transporter. Subcell. Biochem. 46: 99-118.
-
(2007)
Subcell. Biochem.
, vol.46
, pp. 99-118
-
-
Christie, D.L.1
-
16
-
-
33744473608
-
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
-
Clark, A.J., Rosenberg, E.H., Almeida, L.S., Wood, T.C., Jakobs, C., Stevenson, R.E., Schwartz, C.E., and Salomons, G.S., 2006, X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum. Genet. 119: 604-610.
-
(2006)
Hum. Genet.
, vol.119
, pp. 604-610
-
-
Clark, A.J.1
Rosenberg, E.H.2
Almeida, L.S.3
Wood, T.C.4
Jakobs, C.5
Stevenson, R.E.6
Schwartz, C.E.7
Salomons, G.S.8
-
17
-
-
0035122206
-
Endogenous guanidino compounds as uremic neurotoxins
-
De Deyn, P.P., D'Hooge, R., Van Bogaert, P.P., and Marescau, B., 2001, Endogenous guanidino compounds as uremic neurotoxins. Kidney Int. Suppl. 78: S77-S83.
-
(2001)
Kidney Int. Suppl.
, vol.78
, pp. S77-S83
-
-
De Deyn, P.P.1
D'Hooge, R.2
Van Bogaert, P.P.3
Marescau, B.4
-
18
-
-
85063848042
-
Mitochondrial dysfunction in creatine biosynthesis disorder
-
De Vries, M., Morava, E., Rodenburg, R., Kluijtmans, L., Verhoeven, N.M., Salomons, G.S., Jakobs, C., and Smeitink, J., 2005, Mitochondrial dysfunction in creatine biosynthesis disorder. J. Inherit. Metab. Dis. 28: 227.
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 227
-
-
De Vries, M.1
Morava, E.2
Rodenburg, R.3
Kluijtmans, L.4
Verhoeven, N.M.5
Salomons, G.S.6
Jakobs, C.7
Smeitink, J.8
-
19
-
-
0037306621
-
The clinical syndrome of creatine transporter deficiency
-
DeGrauw, T.J., Cecil, K.M., Byars, A.W., Salomons, G.S., Ball, W.S., and Jakobs, C., 2003, The clinical syndrome of creatine transporter deficiency. Mol. Cell. Biochem. 244: 45-48.
-
(2003)
Mol. Cell. Biochem.
, vol.244
, pp. 45-48
-
-
DeGrauw, T.J.1
Cecil, K.M.2
Byars, A.W.3
Salomons, G.S.4
Ball, W.S.5
Jakobs, C.6
-
20
-
-
0036823086
-
Congenital creatine transporter deficiency
-
DeGrauw, T.J., Salomons, G.S., Cecil, K.M., Chuck, G., Newmeyer, A., Schapiro, M.B., and Jakobs, C., 2002, Congenital creatine transporter deficiency. Neuropediatrics 33: 232-238.
-
(2002)
Neuropediatrics
, vol.33
, pp. 232-238
-
-
DeGrauw, T.J.1
Salomons, G.S.2
Cecil, K.M.3
Chuck, G.4
Newmeyer, A.5
Schapiro, M.B.6
Jakobs, C.7
-
21
-
-
0038381490
-
Inhibition of the mitochondrial permeability transition by creatine kinase substrates. Requirement for microcompartmentation
-
Dolder, M., Walzel, B., Speer, O., Schlattner, U., and Wallimann, T., 2003, Inhibition of the mitochondrial permeability transition by creatine kinase substrates. Requirement for microcompartmentation. J. Biol. Chem. 278: 17760-17766.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 17760-17766
-
-
Dolder, M.1
Walzel, B.2
Speer, O.3
Schlattner, U.4
Wallimann, T.5
-
22
-
-
0031913691
-
Metabolism of glycine in primary astroglial cells: Synthesis of creatine, serine, and glutathione
-
Dringen, R., Verleysdonk, S., Hamprecht, B., Willker, W., Leibfritz, D., and Brand, A., 1998, Metabolism of glycine in primary astroglial cells: synthesis of creatine, serine, and glutathione. J. Neurochem. 70: 835-840.
-
(1998)
J. Neurochem.
, vol.70
, pp. 835-840
-
-
Dringen, R.1
Verleysdonk, S.2
Hamprecht, B.3
Willker, W.4
Leibfritz, D.5
Brand, A.6
-
23
-
-
0034764751
-
Arginine:Glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans
-
Item, C.B., Stöckler-Ipsiroglu, S., Stromberger, C., Muhl, A., Alessandri, M.G., Bianchi, M.C., Tosetti, M., Fornai, F., and Cioni, G., 2001, Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am. J. Hum. Genet. 69: 1127-1133.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1127-1133
-
-
Item, C.B.1
Stöckler-Ipsiroglu, S.2
Stromberger, C.3
Muhl, A.4
Alessandri, M.G.5
Bianchi, M.C.6
Tosetti, M.7
Fornai, F.8
Cioni, G.9
-
24
-
-
36949043066
-
Gamma-guanidinobutyric acid as a convulsive substance
-
Jinnai, D., Sawai, A., and Mori, A., 1966, Gamma-guanidinobutyric acid as a convulsive substance. Nature 212: 617.
-
(1966)
Nature
, vol.212
, pp. 617
-
-
Jinnai, D.1
Sawai, A.2
Mori, A.3
-
25
-
-
12244274982
-
Creatine enhances survival of glutamate-treated neuronal/glial cells, modulates Ras/NF-κB signaling, and increases the generation of reactive oxygen species
-
Juravleva, E., Barbakadze, T., Mikeladze, D., and Kekelidze, T., 2005, Creatine enhances survival of glutamate-treated neuronal/glial cells, modulates Ras/NF-κB signaling, and increases the generation of reactive oxygen species. J. Neurosci. Res. 79: 224-230.
-
(2005)
J. Neurosci. Res.
, vol.79
, pp. 224-230
-
-
Juravleva, E.1
Barbakadze, T.2
Mikeladze, D.3
Kekelidze, T.4
-
26
-
-
25144432498
-
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation
-
Kleefstra, T., Rosenberg, E.H., Salomons, G.S., Stroink, H., van Bokhoven, H., Hamel, B.C., and de Vries, B.B., 2005, Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. Clin. Genet. 68: 379-381.
-
(2005)
Clin. Genet.
, vol.68
, pp. 379-381
-
-
Kleefstra, T.1
Rosenberg, E.H.2
Salomons, G.S.3
Stroink, H.4
van Bokhoven, H.5
Hamel, B.C.6
de Vries, B.B.7
-
27
-
-
0033051815
-
Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis
-
Klivenyi, P., Ferrante, R.J., Matthews, R.T., Bogdanov, M.B., Klein, A.M., Andreassen, O.A., Mueller, G., Wermer, M., Kaddurah-Daouk, R., and Beal, M.F., 1999, Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nat. Med. 5: 347-350.
-
(1999)
Nat. Med.
, vol.5
, pp. 347-350
-
-
Klivenyi, P.1
Ferrante, R.J.2
Matthews, R.T.3
Bogdanov, M.B.4
Klein, A.M.5
Andreassen, O.A.6
Mueller, G.7
Wermer, M.8
Kaddurah-Daouk, R.9
Beal, M.F.10
-
28
-
-
15044340243
-
Brain creatine functions to attenuate acute stress responses through GABAnergic system in chicks
-
Koga, Y., Takahashi, H., Oikawa, D., Tachibana, T., Denbow, D.M., and Furuse, M., 2005, Brain creatine functions to attenuate acute stress responses through GABAnergic system in chicks. Neuroscience 132: 65-71.
-
(2005)
Neuroscience
, vol.132
, pp. 65-71
-
-
Koga, Y.1
Takahashi, H.2
Oikawa, D.3
Tachibana, T.4
Denbow, D.M.5
Furuse, M.6
-
30
-
-
33750972301
-
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation
-
Lion-Francois, L., Cheillan, D., Pitelet, G., Acquaviva-Bourdain, C., Bussy, G., Cotton, F., Guibaud, L., Gerard, D., Rivier, C., Vianey-Saban, C., Jakobs, C., Salomons, G.S., and des Portes, V., 2006, High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 67: 1713-1714.
-
(2006)
Neurology
, vol.67
, pp. 1713-1714
-
-
Lion-Francois, L.1
Cheillan, D.2
Pitelet, G.3
Acquaviva-Bourdain, C.4
Bussy, G.5
Cotton, F.6
Guibaud, L.7
Gerard, D.8
Rivier, C.9
Vianey-Saban, C.10
Jakobs, C.11
Salomons, G.S.12
des Portes, V.13
-
31
-
-
0008045080
-
Extracellular creatine regulates creatine transport in rat and human muscle cells
-
Loike, J.D., Zalutsky, D.L., Kaback, E., Miranda, A.F., and Silverstein, S.C., 1988, Extracellular creatine regulates creatine transport in rat and human muscle cells. Proc. Natl. Acad. Sci. USA 85: 807-811.
-
(1988)
Proc. Natl. Acad. Sci. USA
, vol.85
, pp. 807-811
-
-
Loike, J.D.1
Zalutsky, D.L.2
Kaback, E.3
Miranda, A.F.4
Silverstein, S.C.5
-
32
-
-
19944427684
-
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families
-
Mancini, G.M., Catsman-Berrevoets, C.E., de Coo, I.F., Aarsen, F.K., Kamphoven, J.H., Huijmans, J.G., Duran, M., van der Knaap, M.S., Jakobs, C., and Salomons, G.S., 2005, Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am. J. Med. Genet. A 132: 288-295.
-
(2005)
Am. J. Med. Genet. A
, vol.132
, pp. 288-295
-
-
Mancini, G.M.1
Catsman-Berrevoets, C.E.2
de Coo, I.F.3
Aarsen, F.K.4
Kamphoven, J.H.5
Huijmans, J.G.6
Duran, M.7
van der Knaap, M.S.8
Jakobs, C.9
Salomons, G.S.10
-
33
-
-
0032914740
-
Creatine and cyclocreatine attenuate MPTP neurotoxicity
-
Matthews, R.T., Ferrante, R.J., Klivenyi, P., Yang, L., Klein, A.M., Mueller, G., Kaddurah-Daouk, R., and Beal, M.F., 1999, Creatine and cyclocreatine attenuate MPTP neurotoxicity. Exp. Neurol. 157: 142-149.
-
(1999)
Exp. Neurol.
, vol.157
, pp. 142-149
-
-
Matthews, R.T.1
Ferrante, R.J.2
Klivenyi, P.3
Yang, L.4
Klein, A.M.5
Mueller, G.6
Kaddurah-Daouk, R.7
Beal, M.F.8
-
34
-
-
0031964359
-
Neuroprotective effects of creatine and cyclocreatine in animal models of Huntington's disease
-
Matthews, R.T., Yang, L., Jenkins, B.G., Ferrante, R.J., Rosen, B.R., Kaddurah-Daouk, R., and Beal, M.F., 1998, Neuroprotective effects of creatine and cyclocreatine in animal models of Huntington's disease. J. Neurosci. 18: 156-163.
-
(1998)
J. Neurosci.
, vol.18
, pp. 156-163
-
-
Matthews, R.T.1
Yang, L.2
Jenkins, B.G.3
Ferrante, R.J.4
Rosen, B.R.5
Kaddurah-Daouk, R.6
Beal, M.F.7
-
35
-
-
85063848824
-
-
Submitted for publication
-
Mercimek-Mahmutoglu, S., Muehl, A., Salomons, G.S., Waldhoer, T., Neophytou, B., Jakobs, C., and Stoeckler-Ipsiroglu, S., 2007, Simultaneous determination of urinary creatine and creatinine by electrospray tandem mass spectrometry for screening of X-linked creatine transporter (SLC6A8) deficiency. Submitted for publication.
-
(2007)
Simultaneous determination of urinary creatine and creatinine by electrospray tandem mass spectrometry for screening of X-linked creatine transporter (SLC6A8) deficiency
-
-
Mercimek-Mahmutoglu, S.1
Muehl, A.2
Salomons, G.S.3
Waldhoer, T.4
Neophytou, B.5
Jakobs, C.6
Stoeckler-Ipsiroglu, S.7
-
36
-
-
33747075772
-
GAMT deficiency: Features, treatment, and outcome in an inborn error of creatine synthesis
-
Mercimek-Mahmutoglu, S., Stoeckler-Ipsiroglu, S., Adami, A., Appleton, R., Araujo, H.C., Duran, M., Ensenauer, R., Fernandez-Alvarez, E., Garcia, P., Grolik, C., Item, C.B., Leuzzi, V., Marquardt, I., Muhl, A., Saelke-Kellermann, R.A., Salomons, G.S., Schulze, A., Surtees, R., van der Knaap, M.S., Vasconcelos, R., Verhoeven, N.M., Vilarinho, L., Wilichowski, E., and Jakobs, C., 2006, GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 67: 480-484.
-
(2006)
Neurology
, vol.67
, pp. 480-484
-
-
Mercimek-Mahmutoglu, S.1
Stoeckler-Ipsiroglu, S.2
Adami, A.3
Appleton, R.4
Araujo, H.C.5
Duran, M.6
Ensenauer, R.7
Fernandez-Alvarez, E.8
Garcia, P.9
Grolik, C.10
Item, C.B.11
Leuzzi, V.12
Marquardt, I.13
Muhl, A.14
Saelke-Kellermann, R.A.15
Salomons, G.S.16
Schulze, A.17
Surtees, R.18
van der Knaap, M.S.19
Vasconcelos, R.20
Verhoeven, N.M.21
Vilarinho, L.22
Wilichowski, E.23
Jakobs, C.24
more..
-
37
-
-
0036966277
-
Activation of GABAA receptors by guanidinoacetate: A novel pathophysiological mechanism
-
Neu, A., Neuhoff, H., Trube, G., Fehr, S., Ullrich, K., Roeper, J., and Isbrandt, D., 2002, Activation of GABAA receptors by guanidinoacetate: a novel pathophysiological mechanism. Neurobiol. Dis. 11: 298-307.
-
(2002)
Neurobiol. Dis.
, vol.11
, pp. 298-307
-
-
Neu, A.1
Neuhoff, H.2
Trube, G.3
Fehr, S.4
Ullrich, K.5
Roeper, J.6
Isbrandt, D.7
-
38
-
-
24644493709
-
Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging
-
Newmeyer, A., Cecil, K.M., Schapiro, M., Clark, J.F., and Degrauw, T.J., 2005, Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J. Dev. Behav. Pediatr. 26: 276-282.
-
(2005)
J. Dev. Behav. Pediatr.
, vol.26
, pp. 276-282
-
-
Newmeyer, A.1
Cecil, K.M.2
Schapiro, M.3
Clark, J.F.4
Degrauw, T.J.5
-
39
-
-
0037112625
-
--creatine transporter: Functional, molecular characterization and localization
-
--creatine transporter: functional, molecular characterization and localization. J. Physiol. 545: 133-144.
-
(2002)
J. Physiol.
, vol.545
, pp. 133-144
-
-
Peral, M.J.1
Garcia-Delgado, M.2
Calonge, M.L.3
Duran, J.M.4
De La Horra, M.C.5
Wallimann, T.6
Speer, O.7
Ilundain, A.8
-
40
-
-
33645686423
-
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
-
Poo-Arguelles, P., Arias, A., Vilaseca, M.A., Ribes, A., Artuch, R., Sans-Fito, A., Moreno, A., Jakobs, C., and Salomons, G., 2006, X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J. Inherit. Metab. Dis. 29: 220-223.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 220-223
-
-
Poo-Arguelles, P.1
Arias, A.2
Vilaseca, M.A.3
Ribes, A.4
Artuch, R.5
Sans-Fito, A.6
Moreno, A.7
Jakobs, C.8
Salomons, G.9
-
41
-
-
4344603793
-
Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: A case study
-
Pyne-Geithman, G.J., Degrauw, T.J., Cecil, K.M., Chuck, G., Lyons, M.A., Ishida, Y., and Clark, J.F., 2004, Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study. Mol. Cell. Biochem. 262: 35-39.
-
(2004)
Mol. Cell. Biochem.
, vol.262
, pp. 35-39
-
-
Pyne-Geithman, G.J.1
Degrauw, T.J.2
Cecil, K.M.3
Chuck, G.4
Lyons, M.A.5
Ishida, Y.6
Clark, J.F.7
-
42
-
-
0242290992
-
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: Validation of an animal model to study creatine deficiency
-
Renema, W.K., Schmidt, A., van Asten, J.J., Oerlemans, F., Ullrich, K., Wieringa, B., Isbrandt, D., and Heerschap, A., 2003, MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency. Magn. Reson. Med. 50: 936-943.
-
(2003)
Magn. Reson. Med.
, vol.50
, pp. 936-943
-
-
Renema, W.K.1
Schmidt, A.2
van Asten, J.J.3
Oerlemans, F.4
Ullrich, K.5
Wieringa, B.6
Isbrandt, D.7
Heerschap, A.8
-
43
-
-
34848909017
-
Functional characterization of missense variants in creatine transporter/SLC6A8: Improved diagnostic application
-
Rosenberg, E.H., Martínez Muñoz, C., Betsalel, O.T., van Dooren, S.J., Fernandez, M., Jakobs, C., deGrauw, T.J., Kleefstra, T., Schwartz, C.E., and Salomons, G.S., 2007, Functional characterization of missense variants in creatine transporter/SLC6A8: improved diagnostic application. Hum. Mutat., in press.
-
(2007)
Hum. Mutat.
-
-
Rosenberg, E.H.1
Martínez Muñoz, C.2
Betsalel, O.T.3
van Dooren, S.J.4
Fernandez, M.5
Jakobs, C.6
deGrauw, T.J.7
Kleefstra, T.8
Schwartz, C.E.9
Salomons, G.S.10
-
44
-
-
3042544793
-
High prevalence of SLC6A8 deficiency in X-linked mental retardation
-
Rosenberg, E.H., Almeida, L.S., Kleefstra, T., deGrauw, R.S., Yntema, H.G., Bahi, N., Moraine, C., Ropers, H.H., Fryns, J.P., deGrauw, T.J., Jakobs, C., and Salomons, G.S., 2004, High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am. J. Hum. Genet. 75: 97-105.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 97-105
-
-
Rosenberg, E.H.1
Almeida, L.S.2
Kleefstra, T.3
deGrauw, R.S.4
Yntema, H.G.5
Bahi, N.6
Moraine, C.7
Ropers, H.H.8
Fryns, J.P.9
deGrauw, T.J.10
Jakobs, C.11
Salomons, G.S.12
-
45
-
-
0034987448
-
X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
-
Salomons, G.S., van Dooren, S.J., Verhoeven, N.M., Cecil, K.M., Ball, W.S., Degrauw, T.J., and Jakobs, C., 2001, X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am. J. Hum. Genet. 68: 1497-1500.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1497-1500
-
-
Salomons, G.S.1
van Dooren, S.J.2
Verhoeven, N.M.3
Cecil, K.M.4
Ball, W.S.5
Degrauw, T.J.6
Jakobs, C.7
-
46
-
-
2442475483
-
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency
-
Schmidt, A., Marescau, B., Boehm, E.A., Renema, W.K., Peco, R., Das, A., Steinfeld, R., Chan, S., Wallis, J., Davidoff, M., Ullrich, K., Waldschutz, R., Heerschap, A., De Deyn, P.P., Neubauer, S., and Isbrandt, D., 2004, Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum. Mol. Genet. 13: 905-921.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 905-921
-
-
Schmidt, A.1
Marescau, B.2
Boehm, E.A.3
Renema, W.K.4
Peco, R.5
Das, A.6
Steinfeld, R.7
Chan, S.8
Wallis, J.9
Davidoff, M.10
Ullrich, K.11
Waldschutz, R.12
Heerschap, A.13
De Deyn, P.P.14
Neubauer, S.15
Isbrandt, D.16
-
47
-
-
0019827004
-
3H-noradrenaline release from rat neocortex slices: Role of calcium ions and transmitter pools
-
3H-noradrenaline release from rat neocortex slices: role of calcium ions and transmitter pools. Neurochem. Int. 3: 129-136.
-
(1981)
Neurochem. Int.
, vol.3
, pp. 129-136
-
-
Schoffelmeer, A.N.1
Wemer, J.2
Mulder, A.H.3
-
48
-
-
0031808246
-
Therapeutic trial of arginine restriction in creatine deficiency syndrome
-
Schulze, A., Mayatepek, E., Bachert, P., Marescau, B., De Deyn, P.P., and Rating, D., 1998, Therapeutic trial of arginine restriction in creatine deficiency syndrome. Eur. J. Pediatr. 157: 606-607.
-
(1998)
Eur. J. Pediatr.
, vol.157
, pp. 606-607
-
-
Schulze, A.1
Mayatepek, E.2
Bachert, P.3
Marescau, B.4
De Deyn, P.P.5
Rating, D.6
-
49
-
-
0037309446
-
Lack of creatine in muscle and brain in an adult with GAMT deficiency
-
Schulze, A., Bachert, P., Schlemmer, H., Harting, I., Polster, T., Salomons, G.S., Verhoeven, N.M., Jakobs, C., Fowler, B., Hoffmann, G.F., and Mayatepek, E., 2003, Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann. Neurol. 53: 248-251.
-
(2003)
Ann. Neurol.
, vol.53
, pp. 248-251
-
-
Schulze, A.1
Bachert, P.2
Schlemmer, H.3
Harting, I.4
Polster, T.5
Salomons, G.S.6
Verhoeven, N.M.7
Jakobs, C.8
Fowler, B.9
Hoffmann, G.F.10
Mayatepek, E.11
-
50
-
-
33747680298
-
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
-
Schulze, A., Hoffmann, G.F., Bachert, P., Kirsch, S., Salomons, G.S., Verhoeven, N.M., and Mayatepek, E., 2006, Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology 67: 719-721.
-
(2006)
Neurology
, vol.67
, pp. 719-721
-
-
Schulze, A.1
Hoffmann, G.F.2
Bachert, P.3
Kirsch, S.4
Salomons, G.S.5
Verhoeven, N.M.6
Mayatepek, E.7
-
51
-
-
43149090114
-
Pre-symptomatic treatment of creatine biosynthesis defects
-
Schulze, A., and Battini, R., 2007, Pre-symptomatic treatment of creatine biosynthesis defects. Subcell. Biochem. 46: 167-181.
-
(2007)
Subcell. Biochem.
, vol.46
, pp. 167-181
-
-
Schulze, A.1
Battini, R.2
-
52
-
-
0842323749
-
Creatine transporters: A reappraisal
-
Speer, O., Neukomm, L.J., Murphy, R.M., Zanolla, E., Schlattner, U., Henry, H., Snow, R.J., and Wallimann, T., 2004, Creatine transporters: a reappraisal. Mol. Cell. Biochem. 256-257: 407-424.
-
(2004)
Mol. Cell. Biochem.
, vol.256-257
, pp. 407-424
-
-
Speer, O.1
Neukomm, L.J.2
Murphy, R.M.3
Zanolla, E.4
Schlattner, U.5
Henry, H.6
Snow, R.J.7
Wallimann, T.8
-
53
-
-
0027994133
-
Creatine deficiency in the brain: A new, treatable inborn error of metabolism
-
Stöckler, S., Holzbach, U., Hanefeld, F., Marquardt, I., Helms, G., Requart, M., Hanicke, W., and Frahm, J., 1994, Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr. Res. 36: 409-413.
-
(1994)
Pediatr. Res.
, vol.36
, pp. 409-413
-
-
Stöckler, S.1
Holzbach, U.2
Hanefeld, F.3
Marquardt, I.4
Helms, G.5
Requart, M.6
Hanicke, W.7
Frahm, J.8
-
54
-
-
0030596907
-
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
-
Stöckler, S., Hanefeld, F., and Frahm, J., 1996a, Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348: 789-790.
-
(1996)
Lancet
, vol.348
, pp. 789-790
-
-
Stöckler, S.1
Hanefeld, F.2
Frahm, J.3
-
55
-
-
0029959969
-
Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
-
Stöckler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., and von Figura, K., 1996b, Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am. J. Hum. Genet. 58: 914-922.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 914-922
-
-
Stöckler, S.1
Isbrandt, D.2
Hanefeld, F.3
Schmidt, B.4
von Figura, K.5
-
56
-
-
0030833384
-
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
-
Stöckler, S., Marescau, B., De Deyn, P.P., Trijbels, J.M., and Hanefeld, F., 1997, Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 46: 1189-1193.
-
(1997)
Metabolism
, vol.46
, pp. 1189-1193
-
-
Stöckler, S.1
Marescau, B.2
De Deyn, P.P.3
Trijbels, J.M.4
Hanefeld, F.5
-
57
-
-
84895317412
-
Creatine deficiency syndromes
-
Fernandes, J., Saudubray, J.-M., van den Berghe, G., and Walter, J.H., eds., Springer, Heidelberg, Germany
-
Stöckler-Ipsiroglu, S., and Salomons, G.S., 2006, Creatine deficiency syndromes. In: Fernandes, J., Saudubray, J.-M., van den Berghe, G., and Walter, J.H., eds., Inborn Metabolic Diseases, Diagnosis and Treatment, Springer, Heidelberg, Germany, pp. 211-217.
-
(2006)
Inborn Metabolic Diseases, Diagnosis and Treatment
, pp. 211-217
-
-
Stöckler-Ipsiroglu, S.1
Salomons, G.S.2
-
58
-
-
3142683647
-
Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis
-
Tachikawa, M., Fukaya, M., Terasaki, T., Ohtsuki, S., and Watanabe, M., 2004, Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis. Eur. J. Neurosci. 20: 144-160.
-
(2004)
Eur. J. Neurosci.
, vol.20
, pp. 144-160
-
-
Tachikawa, M.1
Fukaya, M.2
Terasaki, T.3
Ohtsuki, S.4
Watanabe, M.5
-
59
-
-
43149115227
-
A novel relationship between creatine transport at the blood-brain and blood-retinal barriers, creatine biosynthesis, and its use for brain and retinal energy homeostasis
-
Tachikawa, M., Hosoya, K.-i., Ohtsuki, S., and Terasaki, T., 2007, A novel relationship between creatine transport at the blood-brain and blood-retinal barriers, creatine biosynthesis, and its use for brain and retinal energy homeostasis. Subcell. Biochem. 46: 83-98.
-
(2007)
Subcell. Biochem.
, vol.46
, pp. 83-98
-
-
Tachikawa, M.1
Hosoya, K.-I.2
Ohtsuki, S.3
Terasaki, T.4
-
60
-
-
0141522497
-
Histological assessment of intermediate- and long-term creatine monohydrate supplementation in mice and rats
-
Tarnopolsky, M.A., Bourgeois, J.M., Snow, R., Keys, S., Roy, B.D., Kwiecien, J.M., and Turnbull, J., 2003, Histological assessment of intermediate- and long-term creatine monohydrate supplementation in mice and rats. Am. J. Physiol. Regul. Integr. Comp. Physiol. 285: R762-R769.
-
(2003)
Am. J. Physiol. Regul. Integr. Comp. Physiol.
, vol.285
, pp. R762-R769
-
-
Tarnopolsky, M.A.1
Bourgeois, J.M.2
Snow, R.3
Keys, S.4
Roy, B.D.5
Kwiecien, J.M.6
Turnbull, J.7
-
61
-
-
15944411041
-
Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency
-
Torremans, A., Marescau, B., Possemiers, I., Van Dam, D., D'Hooge, R., Isbrandt, D., and De Deyn, P.P., 2005, Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency. J. Neurol. Sci. 231: 49-55.
-
(2005)
J. Neurol. Sci.
, vol.231
, pp. 49-55
-
-
Torremans, A.1
Marescau, B.2
Possemiers, I.3
Van Dam, D.4
D'Hooge, R.5
Isbrandt, D.6
De Deyn, P.P.7
-
63
-
-
0018373246
-
Creatine: Biosynthesis, regulation, and function
-
Walker, J.B., 1979, Creatine: biosynthesis, regulation, and function. Adv. Enzymol. Relat. Areas Mol. Biol. 50: 177-242.
-
(1979)
Adv. Enzymol. Relat. Areas Mol. Biol.
, vol.50
, pp. 177-242
-
-
Walker, J.B.1
-
64
-
-
0031916187
-
Arginine kinase expression and localization in growth cone migration
-
Wang, Y.E., Esbensen, P., and Bentley, D., 1998, Arginine kinase expression and localization in growth cone migration. J. Neurosci. 18: 987-998.
-
(1998)
J. Neurosci.
, vol.18
, pp. 987-998
-
-
Wang, Y.E.1
Esbensen, P.2
Bentley, D.3
-
65
-
-
0033935979
-
Creatine and creatinine metabolism
-
Wyss, M., and Kaddurah-Daouk, R., 2000, Creatine and creatinine metabolism. Physiol. Rev. 80: 1107-1213.
-
(2000)
Physiol. Rev.
, vol.80
, pp. 1107-1213
-
-
Wyss, M.1
Kaddurah-Daouk, R.2
|