Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1476-5438
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease ; volume:30 ; number:7 ; day:25 ; month:2 ; year:2022 ; pages:860-864 ; date:7.2022
European journal of human genetics ; 30, Heft 7 (25.2.2022), 860-864, 7.2022
- Creator
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Elpidorou, Marilena
Poulter, James A.
Szymanska, Katarzyna
Baron, Wia
Junger, Katrin
Boldt, Karsten
Ueffing, Marius
Green, Lydia
Livingston, John H.
Sheridan, Eammon G.
Johnson, Colin A.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41431-022-01050-9
- URN
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urn:nbn:de:101:1-2022081518453959260342
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:22 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Elpidorou, Marilena
- Poulter, James A.
- Szymanska, Katarzyna
- Baron, Wia
- Junger, Katrin
- Boldt, Karsten
- Ueffing, Marius
- Green, Lydia
- Livingston, John H.
- Sheridan, Eammon G.
- Johnson, Colin A.
- SpringerLink (Online service)
Other Objects (12)
Pelizaeus-Merzbacher disease (PMD): case report
Pelizaeus Merzbacher disease: dysmyelination versus demyelination
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Generation and characterization of mice expressing a mutation in the connexin47 protein wich causes Pelizaeus-Merzbacher Like Disease in humans
Pelizäus Merzbacher Erkrankung in einem Fall mit Chromosomenanomalie im Bereich des Genorts PLP
Experimentelle Therapie eines Mausmodells für die Pelizaeus-Merzbacher-Erkrankung mit Lonaprisan und Curcumin
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Charakterisierung neuer Missense Mutationen im Lipidtransporter ABCA3
Merzbacher, Elena geb. Merzbacher
Merzbacher, Elena geb. Merzbacher
Pelizaeus-Merzbacher disease (PMD): case report
Pelizaeus Merzbacher disease: dysmyelination versus demyelination
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Generation and characterization of mice expressing a mutation in the connexin47 protein wich causes Pelizaeus-Merzbacher Like Disease in humans
Pelizäus Merzbacher Erkrankung in einem Fall mit Chromosomenanomalie im Bereich des Genorts PLP
Experimentelle Therapie eines Mausmodells für die Pelizaeus-Merzbacher-Erkrankung mit Lonaprisan und Curcumin
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Charakterisierung neuer Missense Mutationen im Lipidtransporter ABCA3
Merzbacher, Elena geb. Merzbacher
Merzbacher, Elena geb. Merzbacher
Pelizaeus-Merzbacher disease (PMD): case report
Pelizaeus Merzbacher disease: dysmyelination versus demyelination
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Generation and characterization of mice expressing a mutation in the connexin47 protein wich causes Pelizaeus-Merzbacher Like Disease in humans
Pelizäus Merzbacher Erkrankung in einem Fall mit Chromosomenanomalie im Bereich des Genorts PLP
Experimentelle Therapie eines Mausmodells für die Pelizaeus-Merzbacher-Erkrankung mit Lonaprisan und Curcumin
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Charakterisierung neuer Missense Mutationen im Lipidtransporter ABCA3
Merzbacher, Elena geb. Merzbacher