Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family

Neurogenetics

Volumn 12, Issue 1, 2011, Pages 25-31

  Miura, Shiroh ^a   Shibata, Hiroki ^b   Kida, Hiroshi ^a   Noda, Kazuhito ^a   Toyama, Takayuki ^a   Iwasaki, Naoka ^a   Iwaki, Akiko ^b   Ayabe, Mitsuyoshi ^a   Aizawa, Hisamichi ^a   Taniwaki, Takayuki ^a   Fukumaki, Yasuyuki ^b  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

Deletion; DPY30; Hereditary spastic paraplegia type 4 (SPG4); Miscarriage; Neuropathy; SPAST; tau

Indexed keywords

TAU PROTEIN;

5' UNTRANSLATED REGION; ABDOMINAL PAIN; ADULT; AGED; ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; EXON; FEMALE; GAIT DISORDER; GENE DELETION; GENE DOSAGE; GENE MUTATION; HUMAN; HYPERREFLEXIA; INTRON; JAPANESE; LOW BACK PAIN; MALE; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SPASTIC PARAPLEGIA; SPONDYLOSIS; SPONTANEOUS ABORTION; VERTEBRAL CANAL STENOSIS; VIBRATION SENSE; WECHSLER INTELLIGENCE SCALE;

ABORTION, SPONTANEOUS; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 2; DNA; DNA PRIMERS; ELECTROPHYSIOLOGICAL PHENOMENA; EXONS; FEMALE; HUMANS; INTRONS; JAPAN; LOD SCORE; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 79951554733     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0260-7     Document Type: Article

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