Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

Brain and Development

Volumn 32, Issue 7, 2010, Pages 592-594

  Fusco, Carlo ^a   Frattini, Daniele ^a   Farnetti, Enrico ^b   Nicoli, Davide ^b   Casali, Bruno ^b   Fiorentino, Francesco ^c   Nuccitelli, Andrea ^c   Giustina, Elvio Della ^a  

^a Child Neurology Unit   (Italy)

^b Molecular Biology Laboratory   (Italy)

^c GENOMA   (Italy)

Author keywords

Axonal neuropathy; Hereditary spastic paraplegia; SPG3A

Indexed keywords

GENOMIC DNA; ATL1 PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANOSINE TRIPHOSPHATASE; MEMBRANE PROTEIN;

ARTICLE; CASE REPORT; CEREBRAL PALSY; CHILD; ELECTROMYOGRAPHY; EVOKED BRAIN STEM RESPONSE; EXON; FEMALE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; LABORATORY TEST; MOLECULAR GENETICS; MOTOR NEUROPATHY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SPASTIC PARAPLEGIA; SPG3A GENE; VISUAL SYSTEM EXAMINATION; GENETICS; MOTONEURON; MUTATION; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PHENOTYPE; PHYSIOLOGY;

CHILD, PRESCHOOL; EXONS; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MOTOR NEURONS; MUTATION; NEURAL CONDUCTION; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; GTP-BINDING PROTEINS; MEMBRANE PROTEINS;

EID: 77954384314     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2009.08.003     Document Type: Article

References (10)

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