GNE myopathy: Current update and future therapy

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 86, Issue 4, 2015, Pages 385-392

  Nishino, Ichizo ^a   Carrillo Carrasco, Nuria ^b   Argov, Zohar ^c  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; N ACETYLMANNOSAMINE KINASE; PHOSPHOTRANSFERASE; PLACEBO; SIALIC ACID; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; MULTIENZYME COMPLEX; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ABDOMINAL CRAMP; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); DEMOGRAPHY; DIARRHEA; DISEASE REGISTRY; DOSE RESPONSE; DRUG BLOOD LEVEL; DRUG DOSE COMPARISON; DRUG DOSE ESCALATION; DRUG MEGADOSE; DRUG SAFETY; DRUG TOLERABILITY; ENZYME ACTIVITY; GASTROINTESTINAL SYMPTOM; GENE; GENE MUTATION; GENE STRUCTURE; GNE GENE; GNE MYOPATHY; HETEROZYGOTE; HUMAN; ISRAEL; JAPAN; KNOCKOUT MOUSE; LIPOSOMAL GENE DELIVERY SYSTEM; LOADING DRUG DOSE; LOW DRUG DOSE; MOLECULAR PATHOLOGY; MUSCLE BIOPSY; MYOPATHY; NEUROPATHOLOGY; NEXT GENERATION SEQUENCING; NONHUMAN; NORTH AMERICA; NUCLEAR MAGNETIC RESONANCE IMAGING; PACIFIC ISLANDS; PRIORITY JOURNAL; REVIEW; SINGLE DRUG DOSE; UNSPECIFIED SIDE EFFECT; ANIMAL; DISEASE MODEL; DISTAL MYOPATHIES; GENETICS; MOUSE; PATHOLOGY;

ANIMALS; CLINICAL TRIALS AS TOPIC; DISEASE MODELS, ANIMAL; DISTAL MYOPATHIES; HUMANS; MICE; MULTIENZYME COMPLEXES;

EID: 84925355452     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-307051     Document Type: Review

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