A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 2, 2009, Pages 237-240

  Brussino, A ^a,b   Vaula, G ^b   Cagnoli, C ^a,b   Mauro, A ^a   Pradotto, L ^c   Daniele, D ^d   Di Gregorio, E ^a,b   Barberis, M ^a,b   Arduino, C ^b   Squadrone, S ^e   Abete, M C ^e   Migone, N ^a,b   Calabrese, O ^f   Brusco, A ^a,b  

^a UNIVERSITY OF TURIN   (Italy)

^b AOU San Giovanni Battista   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d Azienda Ospedaliera   (Italy)

^e LIGURIA E VALLE D AOSTA   (Italy)

^f UNIVERSITY OF FERRARA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN B; LAMIN B1;

ADULT; AGED; ARTICLE; AUTONOMIC DYSFUNCTION; AUTOSOMAL DOMINANT INHERITANCE; BRAIN DAMAGE; BRAIN REGION; CEREBELLUM DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC TRANSCRIPTION; HUMAN; LEUKOENCEPHALOPATHY; MALE; NERVE FIBER; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PYRAMIDAL SIGN; WHITE MATTER; CASE REPORT; CEREBELLUM; DUPLICATE GENE; EXON; GENETICS; MIDDLE AGED; PATHOLOGY; PEDIGREE; PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY; PYRAMIDAL TRACT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; CEREBELLUM; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, DUPLICATE; HUMANS; LAMIN TYPE B; LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; PYRAMIDAL TRACTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 60249093083     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.147330     Document Type: Article

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