Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2431
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report ; volume:18 ; number:1 ; day:27 ; month:2 ; year:2018 ; pages:1-4 ; date:12.2018
BMC pediatrics ; 18, Heft 1 (27.2.2018), 1-4, 12.2018
- Creator
-
Lyahyai, Jaber
- Contributor
-
Ouled Amar Bencheikh, Bouchra
Elalaoui, Siham C.
Mansouri, Maria
Boualla, Lamia
DIonne-Laporte, Alexandre
Spiegelman, Dan
Dion, Patrick A.
Cossette, Patrick
Rouleau, Guy A.
Sefiani, Abdelaziz
SpringerLink (Online service)
- DOI
-
10.1186/s12887-018-1063-5
- URN
-
urn:nbn:de:101:1-2018062123582637819198
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:29 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Lyahyai, Jaber
- Ouled Amar Bencheikh, Bouchra
- Elalaoui, Siham C.
- Mansouri, Maria
- Boualla, Lamia
- DIonne-Laporte, Alexandre
- Spiegelman, Dan
- Dion, Patrick A.
- Cossette, Patrick
- Rouleau, Guy A.
- Sefiani, Abdelaziz
- SpringerLink (Online service)
Other Objects (12)
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Pelizaeus-Merzbacher disease (PMD): case report
Pelizaeus Merzbacher disease: dysmyelination versus demyelination
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
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: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Merzbacher, Elena geb. Merzbacher
Merzbacher, Elena geb. Merzbacher
Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Pelizaeus-Merzbacher disease (PMD): case report
Pelizaeus Merzbacher disease: dysmyelination versus demyelination
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
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: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Merzbacher, Elena geb. Merzbacher
Merzbacher, Elena geb. Merzbacher
Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Pelizaeus-Merzbacher disease (PMD): case report
Pelizaeus Merzbacher disease: dysmyelination versus demyelination
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
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: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Merzbacher, Elena geb. Merzbacher
Merzbacher, Elena geb. Merzbacher