Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Neurogenetics

Volumn 12, Issue 1, 2011, Pages 65-72

  Schuster, Jens ^a   Sundblom, Jimmy ^b   Thuresson, Ann Charlotte ^a   Hassin Baer, Sharon ^c,d   Klopstock, Thomas ^e   Dichgans, Martin ^f   Cohen, Oren S ^c   Raininko, Raili ^b   Melberg, Atle ^b   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^c SHEBA MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f UNIVERSITY OF MUNICH   (Germany)

Author keywords

Autonomic symptoms; Autosomal dominant leukodystrophy (ADLD); Duplication; Lamin B1; LMNB1

Indexed keywords

LAMIN B; LAMIN B1; UNCLASSIFIED DRUG;

ADULT; ADULT ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY; ARTICLE; ATAXIA; CLINICAL ARTICLE; CONSTIPATION; CONTROLLED STUDY; ERECTILE DYSFUNCTION; FAMILY; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; LEUKOCYTE; LEUKODYSTROPHY; MALE; MICTURITION DISORDER; MOLECULAR DIAGNOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ORTHOSTATIC HYPOTENSION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PYRAMIDAL SIGN; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; WHITE MATTER;

ADULT; AUTONOMIC NERVOUS SYSTEM DISEASES; BRAIN; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENES, DOMINANT; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; LAMIN TYPE B; LEUKOCYTES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER;

EID: 79951557689     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0269-y     Document Type: Article

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