Giant axonal neuropathy :A clinicoradiopathologic diagnosis

Neurology

Volumn 82, Issue 9, 2014, Pages 816-817

  Israni, Anil ^a   Chakrabarty, Biswaroop ^a   Gulati, Sheffali ^a   Mohamed, Akbar ^a   Kumar, Atin ^a   Sable, Mukund N ^a   Suri, Vaishali ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GIANT AXON; GIANT AXONAL NEUROPATHY; GIGAXONIN GENE; HUMAN; LEUKODYSTROPHY; NERVE BIOPSY; NEUROFILAMENT; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD; SURAL NERVE;

CHILD; FEMALE; GIANT AXONAL NEUROPATHY; HUMANS; MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; SURAL NERVE;

EID: 84895761915     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000177     Document Type: Note

References (2)

1. Kuhlenbaumer G, Timmerman V, Bomont P. Giant axonal neuropathy. Gene Rev 2013 (updated 2012).
2. Mahammad S, Murthy SN, Didonna A, et al. Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest 2013;123:1964-1975.