Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Brain

Volumn 132, Issue 2, 2009, Pages 426-438

  Orthmann Murphy, Jennifer L ^a   Salsano, Ettore ^b   Abrams, Charles K ^c   Bizzi, Alberto ^b   Uziel, Graziella ^b   Freidin, Mona M ^c   Lamantea, Eleonora ^b   Zeviani, Massimo ^b   Scherer, Steven S ^a   Pareyson, Davide ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c SUNY Downstate Medical Center   (United States)

Author keywords

Connexin; Gap junction; Oligodendrocyte; Pelizaeus Merzbacher like disease; Spastic paraplegias

Indexed keywords

CONNEXIN 43; CONNEXIN 47;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASTROCYTE; CASE REPORT; CLINICAL FEATURE; ENDOPLASMIC RETICULUM; FEMALE; GAIT; GAP JUNCTION; GENE EXPRESSION; GENE MUTATION; HELA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEUKOENCEPHALOPATHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; OLIGODENDROGLIA; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT;

EID: 60149110304     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn328     Document Type: Article

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