Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement

Annals of Neurology

Volumn 50, Issue 6, 2001, Pages 747-754

  Inoue, Ken ^a   Tanaka, Hajime ^a   Scaglia, Fernando ^a   Araki, Akiko ^a   Shaffer, Lisa G ^a   Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Asahikawa Habilitation Center for Disabled Children   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN; PROTEOLIPID PROTEIN;

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; EVOKED BRAIN STEM RESPONSE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; HUMAN; MYELIN DEFICIENCY; NERVE CELL PLASTICITY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROGLIA; PATHOGENESIS; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STEM CELL TRANSPLANTATION; X CHROMOSOME INACTIVATION;

BRAIN; CHILD; CHILD, PRESCHOOL; DOSAGE COMPENSATION, GENETIC; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; GENE DUPLICATION; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MYELIN PROTEOLIPID PROTEIN; MYELIN SHEATH; OLIGODENDROGLIA; PELIZAEUS-MERZBACHER DISEASE;

EID: 0035202995     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10036     Document Type: Article

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