Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation

Brain

Volumn 138, Issue 6, 2015, Pages 1477-1483

  Tétreault, Martine ^a   Gonzalez, Michael ^b   Dicaire, Marie Josée ^a   Allard, Pierre ^c   Gehring, Kalle ^d   Leblanc, Diane ^c   Leclerc, Nadine ^e   Schondorf, Ronald ^f   Mathieu, Jean ^e   Zuchner, Stephan ^b   Brais, Bernard ^a,e  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MONTREAL   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e Cliniques des Maladies Neuromusculaires   (Canada)

^f MCGILL UNIVERSITY   (Canada)

Author keywords

Ataxia; Axonal neuropathy; Lysosomal disorder; Whole exome sequencing

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; ACETYLGLUCOSAMINIDASE; ALPHA-N-ACETYL-D-GLUCOSAMINIDASE;

ADULT; AGED; ARTICLE; ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; EXOME; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOME ANALYSIS; HAND PARESTHESIA; HUMAN; LEG PAIN; LYSOSOME; MALE; MIDDLE AGED; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SENSORY NEUROPATHY; TILT TABLE TEST; YOUNG ADULT; COMPLICATION; DOMINANT GENE; GENETIC PREDISPOSITION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; METABOLISM; MUTATION; PAIN; PEDIGREE; PERIPHERAL NEUROPATHY;

ACETYLGLUCOSAMINIDASE; ADULT; AGED; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MIDDLE AGED; MUTATION; PAIN; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; YOUNG ADULT;

EID: 84938717687     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv074     Document Type: Article

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