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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. [electronic resource] by
- van de Kamp, J M
- Betsalel, O T
- Mercimek-Mahmutoglu, S
- Abulhoul, L
- Grünewald, S
- Anselm, I
- Azzouz, H
- Bratkovic, D
- de Brouwer, A
- Hamel, B
- Kleefstra, T
- Yntema, H
- Campistol, J
- Vilaseca, M A
- Cheillan, D
- D'Hooghe, M
- Diogo, L
- Garcia, P
- Valongo, C
- Fonseca, M
- Frints, S
- Wilcken, B
- von der Haar, S
- Meijers-Heijboer, H E
- Hofstede, F
- Johnson, D
- Kant, S G
- Lion-Francois, L
- Pitelet, G
- Longo, N
- Maat-Kievit, J A
- Monteiro, J P
- Munnich, A
- Muntau, A C
- Nassogne, M C
- Osaka, H
- Ounap, K
- Pinard, J M
- Quijano-Roy, S
- Poggenburg, I
- Poplawski, N
- Abdul-Rahman, O
- Ribes, A
- Arias, A
- Yaplito-Lee, J
- Schulze, A
- Schwartz, C E
- Schwenger, S
- Soares, G
- Sznajer, Y
- Valayannopoulos, V
- Van Esch, H
- Waltz, S
- Wamelink, M M C
- Pouwels, P J W
- Errami, A
- van der Knaap, M S
- Jakobs, C
- Mancini, G M
- Salomons, G S
Producer: 20140214
In:
Journal of medical genetics vol. 50
Availability: No items available.
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109.
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110.
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Mechanism of the Association between Na+ Binding and Conformations at the Intracellular Gate in Neurotransmitter:Sodium Symporters. [electronic resource] by
- Stolzenberg, Sebastian
- Quick, Matthias
- Zhao, Chunfeng
- Gotfryd, Kamil
- Khelashvili, George
- Gether, Ulrik
- Loland, Claus J
- Javitch, Jonathan A
- Noskov, Sergei
- Weinstein, Harel
- Shi, Lei
Producer: 20150818
In:
The Journal of biological chemistry vol. 290
Availability: No items available.
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111.
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Clinical features and X-inactivation in females heterozygous for creatine transporter defect. [electronic resource] by
- van de Kamp, J M
- Mancini, G M S
- Pouwels, P J W
- Betsalel, O T
- van Dooren, S J M
- de Koning, I
- Steenweg, M E
- Jakobs, C
- van der Knaap, M S
- Salomons, G S
Producer: 20110524
In:
Clinical genetics vol. 79
Availability: No items available.
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113.
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114.
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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. [electronic resource] by
- Valayannopoulos, Vassili
- Bakouh, Naziha
- Mazzuca, Michel
- Nonnenmacher, Luc
- Hubert, Laurence
- Makaci, Fatna-Léa
- Chabli, Allel
- Salomons, Gajja S
- Mellot-Draznieks, Caroline
- Brulé, Emilie
- de Lonlay, Pascale
- Toulhoat, Hervé
- Munnich, Arnold
- Planelles, Gabrielle
- de Keyzer, Yves
Producer: 20130924
In:
Journal of inherited metabolic disease vol. 36
Availability: No items available.
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A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging. [electronic resource] by
- Baroncelli, Laura
- Molinaro, Angelo
- Cacciante, Francesco
- Alessandrì, Maria Grazia
- Napoli, Debora
- Putignano, Elena
- Tola, Jonida
- Leuzzi, Vincenzo
- Cioni, Giovanni
- Pizzorusso, Tommaso
Producer: 20170609
In:
Human molecular genetics vol. 25
Availability: No items available.
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