Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

Journal of Neurology

Volumn 261, Issue 4, 2014, Pages 752-758

  Numata, Yurika ^a,b   Gotoh, Leo ^a   Iwaki, Akiko ^c   Kurosawa, Kenji ^d   Takanashi, Jun Ichi ^e   Deguchi, Kimiko ^a,f   Yamamoto, Toshiyuki ^g   Osaka, Hitoshi ^d   Inoue, Ken ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b TOHOKU UNIVERSITY   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e KAMEDA MEDICAL CENTER   (Japan)

^f Deguchi Pediatric Clinic   (Japan)

^g TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Epidemiology; Hypomyelinating leukodystrophy; Pelizaeus Merzbacher disease

Indexed keywords

ANTICONVULSIVE AGENT; MUSCLE RELAXANT AGENT;

ADOLESCENT; ADULT; ARTICLE; ARTIFICIAL VENTILATION; CHROMOSOME ABERRATION; CLINICAL EXAMINATION; CLINICAL FEATURE; DEMYELINATING DISEASE; DISABILITY; EPIDEMIOLOGICAL DATA; FEEDING APPARATUS; FEMALE; GASTROTOMY; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC TRAIT; HUMAN; HYPOMYELINATING LEUKODYSTROPHY; HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM; INFANT; JAPAN; LEUKODYSTROPHY; LIVE BIRTH; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NEWBORN; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PELIZAEUS MERZBACHER LIKE DISEASE; PLP1 GENE; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; TRACHEOTOMY; CHILD; GENETIC COUNSELING; GENETICS; HETEROZYGOTE; INCIDENCE; MIDDLE AGED; MUSCLE HYPOTONIA; MUTATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS, PATHOLOGIC; PELIZAEUS-MERZBACHER DISEASE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CARRIER STATE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC COUNSELING; HUMANS; INCIDENCE; INFANT; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE HYPOTONIA; MUTATION; NEUROLOGIC EXAMINATION; NYSTAGMUS, PATHOLOGIC; PELIZAEUS-MERZBACHER DISEASE; PREVALENCE; YOUNG ADULT;

EID: 84898916523     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7263-5     Document Type: Article

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