Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

Brain

Volumn 138, Issue 9, 2015, Pages 2521-2536

  Lossos, Alexander ^a   Elazar, Nimrod ^b   Lerer, Israela ^a   Schueler Furman, Ora ^c   Fellig, Yakov ^a   Glick, Benjamin ^d   Zimmerman, Bat El ^a   Azulay, Haim ^a   Dotan, Shlomo ^a   Goldberg, Sharon ^a   Gomori, John M ^a   Ponger, Penina ^a   Newman, J P ^a   Marreed, Hodaifah ^a   Steck, Andreas J ^e   Schaeren Wiemers, Nicole ^e   Mor, Nofar ^b   Harel, Michal ^f   Geiger, Tamar ^f   Eshed Eisenbach, Yael ^b   Meiner, Vardiella ^a   Peles, Elior ^b   more..

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^d Alyn Orthopaedic Hospital and Rehabilitation Centre for Physically Handicapped Children Israel   (Israel)

^e UNIVERSITY HOSPITAL BASEL   (Switzerland)

^f TEL AVIV UNIVERSITY   (Israel)

Author keywords

hereditary spastic paraplegia; MAG; Pelizaeus Merzbacher like disease

Indexed keywords

MYELIN ASSOCIATED GLYCOPROTEIN; CONNEXIN 47; GAP JUNCTION PROTEIN; GREEN FLUORESCENT PROTEIN; PLP1 PROTEIN, HUMAN; PROTEIN S 100; PROTEOLIPID PROTEIN;

ADOLESCENT; ADULT; AREFLEXIA; ARTICLE; BABINSKI REFLEX; BIOCHEMICAL ANALYSIS; CASE REPORT; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DYSARTHRIA; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOFLUORESCENCE; MALE; MASS SPECTROMETRY; MENTAL DEFICIENCY; MISSENSE MUTATION; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPTIC NERVE ATROPHY; PELIZAEUS MERZBACHER DISEASE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEOMICS; SPASTIC PARAPLEGIA; YOUNG ADULT; CHEMICAL STRUCTURE; FAMILY HEALTH; GENETICS; HEK293 CELL LINE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TRANSPORT; SURAL NERVE;

ADULT; CONNEXINS; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM; FAMILY HEALTH; FEMALE; GREEN FLUORESCENT PROTEINS; HEK293 CELLS; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; MYELIN PROTEOLIPID PROTEIN; MYELIN-ASSOCIATED GLYCOPROTEIN; PELIZAEUS-MERZBACHER DISEASE; PROTEIN TRANSPORT; PROTEOMICS; S100 PROTEINS; SURAL NERVE; YOUNG ADULT;

EID: 84940750247     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv204     Document Type: Article

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