A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

Journal of Neurology

Volumn 254, Issue 7, 2007, Pages 897-900

  Hansen, J ^a   Svenstrup, K ^b   Ang, D ^c   Nielsen, M N ^a   Christensen, J H ^a   Gregersen, N ^a   Nielsen, J E ^b,d   Georgopoulos, C ^c   Bross, P ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY OF GENEVA   (Switzerland)

^d Mental Health Services CPH   (Denmark)

Author keywords

Gait disorder; Hereditary spastic paraplegia; Mitochondrial chaperone; Motor neuron disease

Indexed keywords

CHAPERONE; HEAT SHOCK PROTEIN 60; MUTANT PROTEIN;

ALLELE; ARTICLE; CLINICAL ARTICLE; DENMARK; FEMALE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HSPD1 GENE; HUMAN; MALE; MISSENSE MUTATION; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION;

AGED; CHAPERONINS; DENMARK; FAMILY HEALTH; FEMALE; GLUTAMIC ACID; GLUTAMINE; HUMANS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 34547657488     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0470-y     Document Type: Article

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