Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Human Molecular Genetics

Volumn 12, Issue 5, 2003, Pages 527-534

  Taniguchi, Kiyomi ^a   Kobayashi, Kazuhiro ^a   Saito, Kayoko ^b   Yamanouchi, Hideo ^c   Ohnuma, Akira ^d   Hayashi, Yukiko K ^e   Manya, Hiroshi ^f   Jin, Dong Kyu ^g   Lee, Munhyang ^g   Parano, Enrico ^h   Falsaperla, Raffaele ⁱ   Pavone, Piero ⁱ   Van Coster, Rudy ^j   Talim, Beril ^k   Steinbrecher, Alice ^l   Straub, Volker ^l   Nishino, Ichizo ^e   Topaloglu, Haluk ^k   Voit, Thomas ^l   Endo, Tamao ^f   Toda, Tatsushi ^a   more..

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d Miyagi Prefect Takuto Rehab Ctr   (Japan)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^f TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^g Sungkyunkwan University   (South Korea)

^h INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

ⁱ UNIVERSITY OF CATANIA   (Italy)

^j GHENT UNIVERSITY HOSPITAL   (Belgium)

^k HACETTEPE UNIVERSITY   (Turkey)

^l UNIVERSITY OF DUISBURG ESSEN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLGLUCOSAMINYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; CAUCASIAN; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; EXPECTATION; EYE DISEASE; FEMALE; FINLAND; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GEOGRAPHIC DISTRIBUTION; HUMAN; HYDROCEPHALUS; JAPAN; KOREA; MALE; MUSCULAR DYSTROPHY; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; SYMPTOM; WALKER WARBURG SYNDROME;

ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; PEDIGREE; PHENOTYPE;

EID: 0037340155     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg043     Document Type: Article

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