-
1
-
-
9244263630
-
Neurocognitive profiles in Salla disease
-
DOI 10.1017/S0012162204001458
-
Alajoki L., Varho T., Posti K., Aula P., and, Korhonen T., (2004) Neurocognitive profiles in Salla disease. Dev. Med. Child Neurol. 46, 832-837. (Pubitemid 39549658)
-
(2004)
Developmental Medicine and Child Neurology
, vol.46
, Issue.12
, pp. 832-837
-
-
Alajoki, L.1
Varho, T.2
Posti, K.3
Aula, P.4
Korhonen, T.5
-
2
-
-
0000286154
-
Disorders of free sialic acid storage
-
in (Scriver C. R. Beaudet A. L. Sly W. S. and Valle D. eds), McGraw-Hill, New York.
-
Aula P., and, Gahl W. A., (2001) Disorders of free sialic acid storage, in The Metabolic and Molecular Bases of Inherited Disease (, Scriver C. R., Beaudet A. L., Sly W. S., and, Valle D., eds), pp. 5109-5120. McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 5109-5120
-
-
Aula, P.1
Gahl, W.A.2
-
3
-
-
0033799477
-
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation
-
Aula N., Salomaki P., Timonen R., Verheijen F., Mancini G., Mansson J. E., Aula P., and, Peltonen L., (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am. J. Hum. Genet. 67, 832-840.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 832-840
-
-
Aula, N.1
Salomaki, P.2
Timonen, R.3
Verheijen, F.4
Mancini, G.5
Mansson, J.E.6
Aula, P.7
Peltonen, L.8
-
4
-
-
28344455430
-
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
-
DOI 10.1007/s10048-005-0011-3
-
Biancheri R., Rossi A., Verbeek H. A., Schot R., Corsolini F., Assereto S., Mancini G. M., Verheijen F. W., Minetti C., and, Filocamo M., (2005) Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. Neurogenetics 6, 195-199. (Pubitemid 41720891)
-
(2005)
Neurogenetics
, vol.6
, Issue.4
, pp. 195-199
-
-
Biancheri, R.1
Rossi, A.2
Verbeek, H.A.3
Schot, R.4
Corsolini, F.5
Assereto, S.6
Mancini, G.M.S.7
Verheijen, F.W.8
Minetti, C.9
Filocamo, M.10
-
5
-
-
0027476024
-
A synaptic model of memory: Long-term potentiation in the hippocampus
-
DOI 10.1038/361031a0
-
Bliss T. V. P., and, Collingridge G. L., (1993) A synaptic model of memory: long-term potentiation in the hippocampus. Nature 361, 31-39. (Pubitemid 23020772)
-
(1993)
Nature
, vol.361
, Issue.6407
, pp. 31-39
-
-
Bliss, T.V.P.1
Collingridge, G.L.2
-
6
-
-
0034691164
-
Negative regulation of central nervous system myelination by polysialylated-neural cell adhesion molecule
-
DOI 10.1073/pnas.100076197
-
Charles P., Hernandez M. P., Stankoff B., Aigrot M. S., Colin C., Rougon G., Zalc B., and, Lubetzki C., (2000) Negative regulation of central nervous system myelination by polysialylated-neural cell adhesion molecule. Proc. Natl. Acad. Sci. U S A 97, 7585-7590. (Pubitemid 30431507)
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, Issue.13
, pp. 7585-7590
-
-
Charles, P.1
Hernandez, M.P.2
Stankoff, B.3
Aigrot, M.S.4
Colin, C.5
Rougon, G.6
Zalc, B.7
Lubetzki, C.8
-
7
-
-
0032912771
-
The glutamate receptor ion channels
-
Dingledine R., Borges K., Bowie D., and, Traynelis S. F., (1999) The glutamate receptor ion channels. Pharmacol. Rev. 51, 7-61. (Pubitemid 29113865)
-
(1999)
Pharmacological Reviews
, vol.51
, Issue.1
, pp. 7-61
-
-
Dingledine, R.1
Borges, K.2
Bowie, D.3
Traynelis, S.F.4
-
8
-
-
5644239627
-
Migrating and myelinating potential of neural precursors engineered to overexpress PSA-NCAM
-
DOI 10.1016/j.mcn.2004.05.006, PII S1044743104001277
-
Franceschini I., Vitry S., Padilla F., Casanova P., Tham T. N., Fukuda M., Rougon G., Durbec P., and, Dubois-Dalcq M., (2004) Migrating and myelinating potential of neural precursors engineered to overexpress PSA-NCAM. Mol. Cell. Neurosci. 27, 151-162. (Pubitemid 39370097)
-
(2004)
Molecular and Cellular Neuroscience
, vol.27
, Issue.2
, pp. 151-162
-
-
Franceschini, I.1
Vitry, S.2
Padilla, F.3
Casanova, P.4
Tham, T.N.5
Fukuda, M.6
Rougon, G.7
Durbec, P.8
Dubois-Dalcq, M.9
-
9
-
-
0032529722
-
Synaptic vesicular localization and exocytosis of l-aspartate in excitatory nerve terminals
-
Gundersen V., Chaudhry F. A., Bjaalie J. G., Fonnum F., Ottersen O. P., and, Storm-Mathisen J., (1998) Synaptic vesicular localization and exocytosis of l-aspartate in excitatory nerve terminals. J. Neurosci. 18, 6059-6070.
-
(1998)
J. Neurosci.
, vol.18
, pp. 6059-6070
-
-
Gundersen, V.1
Chaudhry, F.A.2
Bjaalie, J.G.3
Fonnum, F.4
Ottersen, O.P.5
Storm-Mathisen, J.6
-
10
-
-
0028047005
-
Phenotypic variation and magnetic resonance imaging (MRI) in salla disease, a free sialic acid storage disorder
-
Haataja L., Parkkola R., Sonninen P., Vanhanen S. L., Schleutker J., Aarimaa T., Turpeinen U., Renlund M., and, Aula P., (1994) Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics 25, 238-244. (Pubitemid 24361405)
-
(1994)
Neuropediatrics
, vol.25
, Issue.5
, pp. 238-244
-
-
Haataja, L.1
Parkkola, R.2
Sonninen, P.3
Vanhanen, S.-L.4
Schleutker, J.5
Aarimaa, T.6
Turpeinen, U.7
Renlund, M.8
Aula, P.9
-
11
-
-
77957307251
-
Metabolic control of vesicular glutamate transport and release
-
Juge N., Gray J. A., Omote H., Miyaji T., Inoue T., Hara C., Uneyama H., Edwards R. H., Nicoll R. A., and, Moriyama Y., (2010) Metabolic control of vesicular glutamate transport and release. Neuron 68, 99-112.
-
(2010)
Neuron
, vol.68
, pp. 99-112
-
-
Juge, N.1
Gray, J.A.2
Omote, H.3
Miyaji, T.4
Inoue, T.5
Hara, C.6
Uneyama, H.7
Edwards, R.H.8
Nicoll, R.A.9
Moriyama, Y.10
-
12
-
-
2542439677
-
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred
-
DOI 10.1016/j.ymgme.2004.03.005, PII S1096719204001052
-
Landau R., Cohen D., Shalev H., Pinsk V., Yerushalmi B., Zeigler M., and, Birk O. S., (2004) A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. Mol. Genet. Metab. 82, 167-172. (Pubitemid 38692555)
-
(2004)
Molecular Genetics and Metabolism
, vol.82
, Issue.2
, pp. 167-172
-
-
Landau, D.1
Cohen, D.2
Shalev, H.3
Pinsk, V.4
Yerushalmi, B.5
Zeigler, M.6
Birk, O.S.7
-
13
-
-
50149109589
-
Identification of a vesicular aspartate transporter
-
Miyaji T., Echigo N., Hiasa M., Senoh S., Omote H., and, Moriyama Y., (2008) Identification of a vesicular aspartate transporter. Proc. Natl. Acad. Sci. U S A 105, 11720-11724.
-
(2008)
Proc. Natl. Acad. Sci. U S A
, vol.105
, pp. 11720-11724
-
-
Miyaji, T.1
Echigo, N.2
Hiasa, M.3
Senoh, S.4
Omote, H.5
Moriyama, Y.6
-
14
-
-
10644257949
-
Functional characterization of wild-type and mutant human sialin
-
DOI 10.1038/sj.emboj.7600464
-
Morin P., Sagne C., and, Gasnier B., (2004) Functional characterization of wild-type and mutant human sialin. EMBO J. 23, 4560-4570. (Pubitemid 39657856)
-
(2004)
EMBO Journal
, vol.23
, Issue.23
, pp. 4560-4570
-
-
Morin, P.1
Sagne, C.2
Gasnier, B.3
-
15
-
-
36148950662
-
G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking
-
DOI 10.1016/j.ymgme.2007.08.121, PII S1096719207003952
-
Myall N. J., Wreden C. C., Wlizla M., and, Reimer R. J., (2007) G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking. Mol. Genet. Metab. 92, 371-374. (Pubitemid 350117720)
-
(2007)
Molecular Genetics and Metabolism
, vol.92
, Issue.4
, pp. 371-374
-
-
Myall, N.J.1
Wreden, C.C.2
Wlizla, M.3
Reimer, R.J.4
-
16
-
-
0037081519
-
PSA-NCAM expression in the piriform cortex of the adult rat. Modulation by NMDA receptor antagonist administration
-
DOI 10.1016/S0006-8993(01)03241-3, PII S0006899301032413
-
Nacher J., Alonso-Llosa G., Rosell D., and, McEwen B., (2002) PSA-NCAM expression in the piriform cortex of the adult rat. Modulation by NMDA receptor antagonist administration. Brain Res. 927, 111-121. (Pubitemid 34124118)
-
(2002)
Brain Research
, vol.927
, Issue.2
, pp. 111-121
-
-
Nacher, J.1
Alonso-Llosa, G.2
Rosell, D.3
McEwen, B.4
-
17
-
-
0017231824
-
Aspartate and glutamate as possible transmitters of excitatory hippocampal afferents
-
Nadler J. V., Vaca K. W., White W. F., Lynch G. S., and, Cotman C. W., (1976) Aspartate and glutamate as possible transmitters of excitatory hippocampal afferents. Nature 260, 538-540.
-
(1976)
Nature
, vol.260
, pp. 538-540
-
-
Nadler, J.V.1
Vaca, K.W.2
White, W.F.3
Lynch, G.S.4
Cotman, C.W.5
-
18
-
-
71849099263
-
The lysosomal sialic acid transporter sialin is required for normal CNS myelination
-
Prolo L. M., Vogel H., and, Reimer R. J., (2009) The lysosomal sialic acid transporter sialin is required for normal CNS myelination. J. Neurosci. 29, 15355-15365.
-
(2009)
J. Neurosci.
, vol.29
, pp. 15355-15365
-
-
Prolo, L.M.1
Vogel, H.2
Reimer, R.J.3
-
19
-
-
50949103503
-
Molecular pathogenesis of sialic acid storage diseases: Insight gained from four missense mutations and a putative polymorphism of human sialin
-
Ruivo R., Sharifi A., Boubekeur S., Morin P., Anne C., Debacker C., Graziano J. C., Sagne C., and, Grasnier B., (2008) Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin. Biol. Cell 100, 551-559.
-
(2008)
Biol. Cell
, vol.100
, pp. 551-559
-
-
Ruivo, R.1
Sharifi, A.2
Boubekeur, S.3
Morin, P.4
Anne, C.5
Debacker, C.6
Graziano, J.C.7
Sagne, C.8
Grasnier, B.9
-
20
-
-
0032706624
-
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
-
Verheijen F. W., Verbeek E., Aula N., et al. (1999) A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat. Genet. 23, 462-465.
-
(1999)
Nat. Genet.
, vol.23
, pp. 462-465
-
-
Verheijen, F.W.1
Verbeek, E.2
Aula, N.3
-
21
-
-
12544255190
-
Varied mechanisms underlie the free sialic acid storage disorders
-
Wreden C. C., Wlizla M., and, Reimer R. J., (2005) Varied mechanisms underlie the free sialic acid storage disorders. J. Biol. Chem. 280, 1408-1416.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 1408-1416
-
-
Wreden, C.C.1
Wlizla, M.2
Reimer, R.J.3
-
22
-
-
0030919370
-
+-dependent transporter in rat pinealocytes
-
+-dependent transporter in rat pinealocytes. J. Neurochem. 69, 1491-1498.
-
(1997)
J. Neurochem.
, vol.69
, pp. 1491-1498
-
-
Yatsushiro, S.1
Yamada, H.2
Kozaki, S.3
Kumon, H.4
Michibata, H.5
Yamamoto, A.6
Moriyama, Y.7
|