A novel recessive NEFL mutation causes a severe, early-onset axonal neuropathy

Annals of Neurology

Volumn 66, Issue 6, 2009, Pages 759-770

  Yum, Sabrina W ^a   Zhang, Junxian ^b   Mo, Katie ^b   Li, Jian ^b   Scherer, Steven S ^b  

^a DREXEL UNIVERSITY   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; NEUROFILAMENT PROTEIN; NEUROFILAMENT PROTEIN L;

ADOLESCENT; ADULT; ANIMAL; ARTICLE; CHILD; DISEASE COURSE; DISEASE MODEL; FAMILY HEALTH; FEMALE; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; HOSPITALIZATION; HUMAN; INFANT; MALE; METABOLISM; METHODOLOGY; MOUSE; MOUSE MUTANT; MUTATION; NERVE CONDUCTION; NERVE FIBER; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PHYSIOLOGY; PRESCHOOL CHILD; SITE DIRECTED MUTAGENESIS; SURAL NERVE; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ADOLESCENT; AGE OF ONSET; ANIMALS; AXONS; CHILD; CHILD, PRESCHOOL; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLUTAMIC ACID; HUMANS; INFANT; MALE; MICE; MICE, KNOCKOUT; MICROSCOPY, ELECTRON, TRANSMISSION; MUTAGENESIS, SITE-DIRECTED; MUTATION; NEURAL CONDUCTION; NEUROFILAMENT PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES; SEVERITY OF ILLNESS INDEX; SURAL NERVE; YOUNG ADULT;

EID: 73549086741     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21728     Document Type: Article

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