The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

Neurogenetics

Volumn 16, Issue 1, 2015, Pages 27-32

  Sinkiewicz Darol, Elena ^a   Lacerda, Andressa Ferreira ^b   Kostera Pruszczyk, Anna ^c   Potulska Chromik, Anna ^c   Sokołowska, Beata ^a   Kabzińska, Dagmara ^a   Brunetti, Craig R ^b   Hausmanowa Petrusewicz, Irena ^a   Kochański, Andrzej ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b TRENT UNIVERSITY   (Canada)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Biomarkers; Charcot Marie Tooth disease type 1A; Gene dosage; LITAF

Indexed keywords

LIPOPOLYSACCHARIDE INDUCED TUMOR NECROSIS FACTOR ALPHA FACTOR; PERIPHERAL MYELIN PROTEIN 22; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; LITAF PROTEIN, HUMAN; MYELIN PROTEIN; NUCLEAR PROTEIN; PMP22 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHARCOT MARIE TOOTH DISEASE TYPE 1A; CHILD; CONTROLLED STUDY; ENDOSOME; FEMALE; GENE DOSAGE; GENE LOCATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; LYSOSOME; MAJOR CLINICAL STUDY; MALE; MITOCHONDRION; NEUROPATHOLOGY; ONSET AGE; PRIORITY JOURNAL; ANIMAL; ARTHROGRYPOSIS; CELL CULTURE; CHARCOT-MARIE-TOOTH DISEASE; CHLOROCEBUS AETHIOPS; COMPLICATION; GENE DELETION; GENETICS; HEREDITARY SENSORY AND MOTOR NEUROPATHY; METABOLISM;

AGE OF ONSET; ANIMALS; ARTHROGRYPOSIS; BIOMARKERS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MITOCHONDRIA; MYELIN PROTEINS; NUCLEAR PROTEINS; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84922090092     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0426-9     Document Type: Article

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