Clinical and genetic investigation of 17 Japanese patients with hyperekplexia
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T. Taketani | Yasuhiro Suzuki | S. Yamaguchi | A. Yokoyama | K. Maruyama | Takashi Hayashi | E. Nanishi | F. Yokochi | H. Arai | K. Kishi | M. Kimura | Mayumi Ono | J. Mine | K. Yoshida | Shusuke Otsubo | J. Kobayashi | Shiho Tamaura
[1] A. Bode,et al. The impact of human hyperekplexia mutations on glycine receptor structure and function , 2014, Molecular Brain.
[2] Jin-Hui Wang,et al. Essential role of axonal VGSC inactivation in time-dependent deceleration and unreliability of spike propagation at cerebellar Purkinje cells , 2014, Molecular Brain.
[3] T. Taketani,et al. A 14-year-old girl with hyperekplexia having GLRB mutations , 2013, Brain and Development.
[4] M. Topf,et al. Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease , 2013, Neurobiology of Disease.
[5] B. Weschke,et al. GLRB is the third major gene of effect in hyperekplexia. , 2013, Human molecular genetics.
[6] R. Thomas,et al. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. , 2013, Brain : a journal of neurology.
[7] Robert J. Harvey,et al. Glycinergic Transmission: Physiological, Developmental and Pathological Implications , 2010, Front. Mol. Neurosci..
[8] F. Andermann,et al. Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia , 2010, The Journal of Neuroscience.
[9] R. Thomas,et al. Frontiers in Molecular Neuroscience Molecular Neuroscience Review Article , 2022 .
[10] M. Topf,et al. The genetics of hyperekplexia: more than startle! , 2008, Trends in genetics : TIG.
[11] M. Tijssen,et al. Startle syndromes , 2009 .
[12] T. Taketani,et al. Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene , 2006, Brain and Development.
[13] M. Owen,et al. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease , 2006, Nature Genetics.
[14] M. Owen,et al. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). , 2002, Human molecular genetics.
[15] P. Hilfiker,et al. Twenty Years of Ictal EEG–EMG , 2000, Epilepsia.