Late-onset metachromatic leukodystrophy: Genotype strongly influences phenotype

Neurology

Volumn 67, Issue 5, 2006, Pages 859-863

  Rauschka, H ^a,b   Colsch, B ^d   Baumann, N ^d   Wevers, R ^f   Schmidbauer, M ^b   Krammer, M ^a   Turpin, J C ^e   Lefevre, M ^d   Olivier, C ^d   Tardieu, S ^e   Krivit, W ^g   Moser, H ^h   Moser, A ^h   Gieselmann, V ⁱ   Zalc, B ^d   Cox, T ^j   Reuner, U ^k   Tylki Szymanska, A ^l   Aboul Enein, F ^a   LeGuern, E ^e   Bernheimer, H ^c   Berger, J ^a   more..

^a Medical University of Vienna   (Austria)

^b GENERAL HOSPITAL LINZ   (Austria)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d INSERM   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^h JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF BONN   (Germany)

^j UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^k DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^l CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ELECTROPHYSIOLOGY; ENZYME ACTIVITY; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MENTAL DISEASE; METACHROMATIC LEUKODYSTROPHY; MOLECULAR GENETICS; MOTOR DYSFUNCTION; NERVE CONDUCTION; NEUROIMAGING; PERIPHERAL NERVE; PRIORITY JOURNAL; SCHIZOPHRENIA; SCHOOL CHILD; SOCIAL DISABILITY; SPASTIC PARAPLEGIA;

ADOLESCENT; ADULT; CEREBROSIDE-SULFATASE; CHILD; ELECTROENCEPHALOGRAPHY; FEMALE; GENOTYPE; HUMANS; ISOLEUCINE; LEUCINE; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEURAL CONDUCTION; PHENOTYPE; PROLINE; STATISTICS, NONPARAMETRIC;

EID: 33748684424     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000234129.97727.4d     Document Type: Article

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