A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia [12]

Journal of Neurology

Volumn 254, Issue 7, 2007, Pages 972-974

  Matsui, M ^a,a,h,h   Kawarai, T ^c   Hase, Y ^a   Tomimoto, H ^a   Iseki, K ^b   Rogaeva, E ^c,d   Orlacchio, A ^f,g   Bernardi, G ^f,g   George Hyslop, P St ^c,e   Takahashi, R ^a  

^a KYOTO UNIVERSITY   (Japan)

^b SHIZUOKA GENERAL HOSPITAL   (Japan)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIVERSITY HEALTH NETWORK   (Canada)

^f IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^g TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^h KANAZAWA MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ATLASTIN; GENE PRODUCT; GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; EXON; FAMILY HISTORY; FEMALE; GAIT DISORDER; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; LINKAGE ANALYSIS; MICROSATELLITE MARKER; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SPG3A GENE;

ADULT; CYSTEINE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; JAPAN; LINKAGE (GENETICS); POLYMORPHISM, GENETIC; SPASTIC PARAPLEGIA, HEREDITARY; TYROSINE;

EID: 34547652559     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0446-y     Document Type: Letter

References (9)

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