Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)

Neuromuscular Disorders

Volumn 17, Issue 8, 2007, Pages 624-630

  Koop, Olga ^a   Schirmacher, Anja ^a   Nelis, Eva ^b,c,d   Timmerman, Vincent ^b,c,d   Jonghe, Peter De ^b,c,d,e   Ringelstein, Bernd ^a   Rasic, Vedrana Milic ^f   Evrard, Philippe ^g   Gärtner, Jutta ^h   Claeys, Kristl G ^b,c,d,e   Appenzeller, Silke ^a   Rautenstrauss, Bernd ⁱ   Hühne, Kathrin ⁱ   Ramos Arroyo, Maria A ^j   Wörle, Helmut ^k   Moilanen, Jukka S ^l   Hammans, Simon ^m   Kuhlenbäumer, Gregor ^a,b,c,d  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY OF BELGRADE   (Serbia)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h UNIVERSITY OF GÖTTINGEN   (Germany)

ⁱ UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^j Universidad Pública de Navarra   (Spain)

^k Olgahospital ^*  (Germany)

^l OULU UNIVERSITY HOSPITAL   (Finland)

^m SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

more..

Author keywords

Giant axonal neuropathy (GAN); Gigaxonin; Mutations; Phenotype

Indexed keywords

GIGAXONIN; PROTEIN; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL FUNCTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GIANT AXONAL NEUROPATHY; HUMAN; MALE; MICROTUBULE; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING;

ADOLESCENT; ADULT; CHILD; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; PROMOTER REGIONS (GENETICS); UBIQUITIN;

EID: 34447128783     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.03.012     Document Type: Article

References (15)

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