CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 82, Issue 8, 2011, Pages 855-860

  Bentley, Paul ^a,b   Wang, Tao ^c   Malik, Omar ^b   Nicholas, Richard ^b   Ban, Maria ^d   Sawcer, Stephen ^d   Sharma, Pankaj ^a,b  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINUCLEAR ANTIBODY; JAGGED1;

ADULT; ARTICLE; CADASIL; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; GENE; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; MULTIPLE SCLEROSIS; NOTCH3 GENE; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; SPINAL CORD DISEASE;

ADULT; AGED; BRAIN; CADASIL; EXONS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS; MUTATION, MISSENSE; PEDIGREE; POSTMORTEM CHANGES; RECEPTORS, NOTCH; SPINAL CORD DISEASES; TISSUE BANKS;

EID: 79960122767     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2010.223297     Document Type: Article

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