A longitudinal study of Taiwanese Sialidosis type 1: An insight into the concept of cherry-red spot myoclonus syndrome

European Journal of Neurology

Volumn 16, Issue 8, 2009, Pages 912-919

  Lai, S C ^a,b   Chen, R S ^a,b   Wu Chou, Y H ^a,c   Chang, H C ^a,b   Kao, L Y ^c   Huang, Y Z ^a,b   Weng, Y H ^a,b   Chen, J K ^c   Hwu, W L ^d   Lu, C S ^a,b  

^a Neuroscience Research Center   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^c CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Cherry red spot myoclonus syndrome; Electrophysiology; Evoked potentials; NEU1 gene; Neuraminidase; Sialidosis type 1

Indexed keywords

GLYCINE; SERINE; SIALIDASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CHERRY RED SPOT; CHERRY RED SPOT MYOCLONUS SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; DEGENERATIVE DISEASE; EARLY DIAGNOSIS; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; EXON; FEMALE; FOLLOW UP; GENE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LONGITUDINAL STUDY; MALE; MYOCLONUS; NEU1 GENE; NEUROIMAGING; PRIORITY JOURNAL; SEIZURE; SIALIDOSIS; SIALIDOSIS TYPE 1; STOP CODON; TAIWAN;

ADOLESCENT; ADULT; ATAXIA; CHILD; DISEASE PROGRESSION; EVOKED POTENTIALS, SOMATOSENSORY; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; MUCOLIPIDOSES; MUTATION, MISSENSE; MYOCLONUS; NEURAMINIDASE; NEURODEGENERATIVE DISEASES; SEIZURES; TAIWAN; YOUNG ADULT;

EID: 67651241755     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2009.02622.x     Document Type: Article

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