Hereditary spastic paraplegia caused by a mutation in the VCP gene

Brain

Volumn 135, Issue 12, 2012, Pages

  De Bot, Susanne T ^a   Schelhaas, Helenius J ^a   Kamsteeg, Erik Jan ^b   Van De Warrenburg, Bart P C ^a  

^a RADBOUD UNIVERSITY   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; TECHNETIUM 99M; THREONINE; UBIQUITIN; VALOSIN CONTAINING PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; BONE SCINTISCANNING; CASE REPORT; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAM; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; LETTER; MALE; MEDICAL EXAMINATION; MISSENSE MUTATION; MYOPATHY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PAGET BONE DISEASE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; WALKING SPEED;

EID: 84871780127     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws201     Document Type: Letter

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