Frontal lobe dysfunction in sporadic hyperekplexia
暂无分享,去创建一个
[1] M. Tijssen,et al. Startle syndromes , 2009 .
[2] 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.
[3] M. Owen,et al. Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia , 2001, Human Genetics.
[4] P. Peterlongo,et al. Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. , 2000, Clinical neuropharmacology.
[5] R. Frants,et al. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations , 1999, Annals of neurology.
[6] Peter J Ell,et al. Nuclear medicine in neurology and psychiatry , 1999, The Lancet.
[7] A. Quattrone,et al. Hyperekplexia in a patient with a brainstem vascular anomaly , 1999, Acta Neurologica Scandinavica.
[8] Karl J. Friston,et al. Exploring the temporal nature of hemodynamic responses of cortical motor areas using functional MRI , 1998, Neurology.
[9] D. Kullmann,et al. Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders , 1998, Journal of neurology, neurosurgery, and psychiatry.
[10] E. Shoubridge,et al. Spectroscopic imaging of frontal neuronal dysfunction in hyperekplexia. , 1998, Brain : a journal of neurology.
[11] M. Kellett,et al. Hyperekplexia and trismus due to brainstem encephalopathy , 1998, Journal of neurology, neurosurgery, and psychiatry.
[12] Robert J. Harvey,et al. Reliable and accurate sequencing of lambda, cosmid and P1 DNAs using modified dye terminator reaction parameters , 1998 .
[13] R. Ophoff,et al. Hyperekplexia-like syndromes without mutations in the GLRA1 gene , 1997, Clinical Neurology and Neurosurgery.
[14] J. G. Dijk,et al. The effects of clonazepam and vigabatrin in hyperekplexia , 1997, Journal of the Neurological Sciences.
[15] D. Clapham,et al. Ion channels--basic science and clinical disease. , 1997, The New England journal of medicine.
[16] M. Owen,et al. Hyperekplexia: abnormal startle response due to glycine receptor mutations , 1997, British Journal of Psychiatry.
[17] F. Elmslie,et al. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. , 1996, Journal of medical genetics.
[18] P. O’Connell,et al. Mutational analysis of familial and sporadic hyperekplexia , 1995, Annals of neurology.
[19] R. Shiang,et al. Molecular genetic reevaluation of the Dutch hyperekplexia family. , 1995, Archives of neurology.
[20] M. Owen,et al. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. , 1994, Human molecular genetics.
[21] P. Schofield,et al. Localization of the glycine receptor α1 subunit gene (GLRA1) to chromosome 5q32 by FISH , 1994 .
[22] J. Ziffer,et al. Hyperekplexia: report of a nonfamilial adult onset case associated with obstructive sleep apnea and abnormal brain nuclear tomography. , 1994, Sleep.
[23] P. Schofield,et al. Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH. , 1994, Genomics.
[24] P. O'Connell,et al. Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia , 1993, Nature Genetics.
[25] J. Stephenson. Vigabatrin for startle-disease with altered cerebrospinal-fluid free gammaaminobutyric acid , 1992, The Lancet.
[26] S. Chokroverty,et al. Human startle reflex: technique and criteria for abnormal response. , 1992, Electroencephalography and clinical neurophysiology.
[27] M. Hallett,et al. Physiological abnormalities in hereditary hyperekplexia , 1992, Annals of neurology.
[28] R. Sparkes,et al. Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis , 1992, Annals of neurology.
[29] Karl Zilles,et al. Glycine receptor immunoreactivity in rat and human cerebral cortex , 1991, Brain Research.
[30] P. Thompson,et al. The hyperekplexias and their relationship to the normal startle reflex. , 1991, Brain : a journal of neurology.
[31] B. Day,et al. A case of postanoxic encephalopathy with cortical action and brainstem reticular reflex myoclonus , 1991, Movement disorders : official journal of the Movement Disorder Society.
[32] C. Becker,et al. The inhibitory glycine receptor: a ligand-gated chloride channel of the central nervous system. , 1990, European journal of biochemistry.
[33] C. Morin,et al. Evidence for a contribution of the auditory cortex to audiospinal facilitation in man. , 1989, Brain : a journal of neurology.
[34] I. Melki,et al. L'hyperexplexia: la «maladie du sursaut» , 1988 .
[35] J. Masdeu,et al. Hyperekplexia: A syndrome of pathological startle responeses , 1984, Annals of neurology.
[36] D. Weaver,et al. Familial startle disease (hyperexplexia). Electrophysiologic studies. , 1984, Archives of neurology.
[37] F. Andermann,et al. Startle disease or hyperekplexia: further delineation of the syndrome. , 1980, Brain : a journal of neurology.
[38] H. Gastaut,et al. The startle disease or hyperekplexia. Pathological surprise reaction. , 1967, Journal of the neurological sciences.
[39] G. Bruyn,et al. Hyperexplexia: A hereditary startle syndrome , 1966 .
[40] F. J. Schonell. Backwardness in the Basic Subjects , 1948 .
[41] E. Weigl,et al. On the psychology of so-called processes of abstraction. , 1941 .