CYP7B1: Novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A

Acta Neurologica Scandinavica

Volumn 129, Issue 5, 2014, Pages 330-334

  Roos, P ^a   Svenstrup, K ^a,b   Danielsen, E R ^a   Thomsen, C ^a   Nielsen, J E ^a,b  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

CYP7B1; Hereditary spastic paraplegia; Magnetic resonance imaging; MR spectroscopy; SPG5A

Indexed keywords

CYP7B1 PROTEIN; CYTOCHROME P450; UNCLASSIFIED DRUG; CYP7B1 PROTEIN, HUMAN; STEROID MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD CHEMISTRY; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; EVOKED MUSCLE RESPONSE; EYE TRACKING; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC PARAPLEGIA TYPE 5A; HUMAN; HUMAN TISSUE; HYPERREFLEXIA; LIMB WEAKNESS; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PROPRIOCEPTION; SPASTICITY; STOP CODON; URINARY URGENCY; WHITE MATTER; BRAIN; COHORT ANALYSIS; EVOKED SOMATOSENSORY RESPONSE; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; MYELINATED NERVE; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; BRAIN; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EVOKED POTENTIALS, MOTOR; EVOKED POTENTIALS, SOMATOSENSORY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MIDDLE AGED; MUTATION; NERVE FIBERS, MYELINATED; NEURAL CONDUCTION; SPASTIC PARAPLEGIA, HEREDITARY; STEROID HYDROXYLASES; YOUNG ADULT;

EID: 84897959732     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/ane.12188     Document Type: Article

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