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Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
Geis, Tobias, Marquard, Klaus, Rödl, Tanja, Reihle, Christof, Schirmer, Sophie, von Kalle, Thekla, Bornemann, Antje, Hehr, Ute and Blankenburg, Markus (2013) Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy. neurogenetics 14 (3-4), pp. 205-213.Date of publication of this fulltext: 19 Dec 2024 08:32
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| Item type | Article | ||||
| Journal or Publication Title | neurogenetics | ||||
| Publisher: | SPRINGER | ||||
|---|---|---|---|---|---|
| Place of Publication: | NEW YORK | ||||
| Volume: | 14 | ||||
| Number of Issue or Book Chapter: | 3-4 | ||||
| Page Range: | pp. 205-213 | ||||
| Date | 2013 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Kinder- und Jugendmedizin | ||||
| Identification Number |
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| Keywords | CONGENITAL MUSCULAR-DYSTROPHY; WALKER-WARBURG-SYNDROME; ALPHA-DYSTROGLYCAN; DEFECTIVE GLYCOSYLATION; O-MANNOSYLATION; LAMA2 MUTATIONS; MEMBRANE; GENOTYPE; DELETION; COMPLEX; Dystroglycan; DAG1; Muscle-eye-brain disease (MEB); Multicystic leucodystrophy; Cystic white matter disease; Megalencephalic leucoencephalopathy with subcortical cysts (MLC) | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 62113 |
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