SCOPUS 정보 검색 플랫폼

Volumn 115, Issue 8, 2013, Pages 1564-1566

An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts

(8) Kocaman, Gulsen a Eryigit, Gozde a Abbink, Truus E M b Kilicarslan, Rukiye a Asil, Talip a Alkan, Alpay a Van Der Knaap, Marjo S b Kocer, Abdulkadir a

a BEZMIALEM VAKIF UNIVERSITY (Turkey)

b VU UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

Leukoencephalopathy; Megalencephaly; Subcortical cyst

Indexed keywords

CHOLINE; DULOXETINE; INOSITOL; LIPID; N ACETYLASPARTIC ACID;

ADULT; ARTICLE; ATAXIA; BASAL GANGLION; BRAIN CYST; BRAIN STEM; CASE REPORT; CLINICAL FEATURE; HEAD CIRCUMFERENCE; HEADACHE; HOMOZYGOSITY; HUMAN; LEUKOENCEPHALOPATHY; MALE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; MUSCLE STRETCHING; NAUSEA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHONOPHOBIA; PHOTOPHOBIA; SEIZURE; SEQUENCE ANALYSIS; SPASTICITY; SYMPTOM; VIBRATION; WHITE MATTER;

LEUKOENCEPHALOPATHY; MEGALENCEPHALY; SUBCORTICAL CYST;

BIOLOGICAL MARKERS; CYSTS; HEADACHE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS;

EID: 84880325381 PISSN: 03038467 EISSN: 18726968 Source Type: Journal
DOI: 10.1016/j.clineuro.2013.01.024 Document Type: Article

Times cited : (7)

References (5)

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- Van Der Knaap, M.S.¹ Boor, I.² Estévez, R.³

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- Mutations in MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts
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- Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism
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- Megalencephalic leukoencephalopathy with subcortical cysts
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.