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Volumn 27, Issue 9, 2012, Pages 1198-1199

Generalized dystonia in a patient with a novel mutation in the GLUD1 gene

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; BACLOFEN; CLONAZEPAM; DIAZOXIDE; GLUTAMATE DEHYDROGENASE; GLUTAMATE DEHYDROGENASE 1; LEVODOPA; RISPERIDONE; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG;

EID: 84864777670     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25081     Document Type: Letter
Times cited : (3)

References (7)
  • 1
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    • Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
    • Stanley CA, Lieu YK, Hsu BY, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998; 338: 1352-1357.
    • (1998) N Engl J Med , vol.338 , pp. 1352-1357
    • Stanley, C.A.1    Lieu, Y.K.2    Hsu, B.Y.3
  • 2
    • 56849124017 scopus 로고    scopus 로고
    • Neurological aspects of hyperinsulinism-hyperammonaemia syndrome
    • Bahi-Buisson N, Roze E, Dionisi C, et al. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol 2008; 50: 945-949.
    • (2008) Dev Med Child Neurol , vol.50 , pp. 945-949
    • Bahi-Buisson, N.1    Roze, E.2    Dionisi, C.3
  • 3
    • 79953885093 scopus 로고    scopus 로고
    • Measurement of variation in the human cerebral GABA level by in vivo MEGA-editing proton MR spectroscopy using a clinical 3 T instrument and its dependence on brain region and the female menstrual cycle
    • Harada M, Kubo H, Nose A, Nishitani H, Matsuda T. Measurement of variation in the human cerebral GABA level by in vivo MEGA-editing proton MR spectroscopy using a clinical 3 T instrument and its dependence on brain region and the female menstrual cycle. Hum Brain Mapp 2011; 32: 828-833.
    • (2011) Hum Brain Mapp , vol.32 , pp. 828-833
    • Harada, M.1    Kubo, H.2    Nose, A.3    Nishitani, H.4    Matsuda, T.5
  • 4
    • 1642465556 scopus 로고    scopus 로고
    • Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism
    • Stanley CA. Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism. Mol Genet Metab 2004; 81: S45-S51.
    • (2004) Mol Genet Metab , vol.81
    • Stanley, C.A.1
  • 5
    • 0026699613 scopus 로고
    • GABAergic inhibition of neuronal activity in the primate motor and premotor cortex during voluntary movement
    • Matsumura M, Sawaguchi T, Kubota K. GABAergic inhibition of neuronal activity in the primate motor and premotor cortex during voluntary movement. J Neurophysiol 1992; 68: 692-702.
    • (1992) J Neurophysiol , vol.68 , pp. 692-702
    • Matsumura, M.1    Sawaguchi, T.2    Kubota, K.3
  • 6
    • 0036135109 scopus 로고    scopus 로고
    • Impaired brain GABA in focal dystonia
    • Levy LM, Hallett M. Impaired brain GABA in focal dystonia. Ann Neurol 2002; 51: 93-101.
    • (2002) Ann Neurol , vol.51 , pp. 93-101
    • Levy, L.M.1    Hallett, M.2
  • 7
    • 0018894707 scopus 로고
    • Levels of gamma-aminobutyric acid in cerebrospinal fluid in various neurologic disorders
    • Manyam NV, Katz L, Hare TA, Gerber JC 3rd, Grossman MH. Levels of gamma-aminobutyric acid in cerebrospinal fluid in various neurologic disorders. Arch Neurol 1980; 37: 352-355.
    • (1980) Arch Neurol , vol.37 , pp. 352-355
    • Manyam, N.V.1    Katz, L.2    Hare, T.A.3    Gerber 3rd, J.C.4    Grossman, M.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.