A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding
Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutatio...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Pavlidou, Efterpi [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017transfer abstract |
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| Umfang: |
4 |
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| Übergeordnetes Werk: |
Enthalten in: Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations - Muthuraja, P. ELSEVIER, 2017transfer abstract, official journal of the Japanese Society of Child Neurology, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:39 ; year:2017 ; number:3 ; pages:271-274 ; extent:4 |
| Links: |
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| DOI / URN: |
10.1016/j.braindev.2016.09.012 |
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| 520 | |a Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. | ||
| 520 | |a Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. | ||
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10.1016/j.braindev.2016.09.012 doi GBVA2017012000014.pica (DE-627)ELV030518415 (ELSEVIER)S0387-7604(16)30161-9 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl Pavlidou, Efterpi verfasserin aut A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding 2017transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. PLP1 gene Elsevier Optic nerve enlargement Elsevier Pelizaeus–Merzbacher disease Elsevier Mutation Elsevier Ramachandran, Vijaya oth Govender, Veronica oth Wilson, Clare oth Das, Rini oth Vlachou, Victoria oth Pavlou, Evangelos oth Saggar, Anand oth Mankad, Kshitij oth Kinali, Maria oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:3 pages:271-274 extent:4 https://doi.org/10.1016/j.braindev.2016.09.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 3 271-274 4 045F 610 |
| spelling |
10.1016/j.braindev.2016.09.012 doi GBVA2017012000014.pica (DE-627)ELV030518415 (ELSEVIER)S0387-7604(16)30161-9 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl Pavlidou, Efterpi verfasserin aut A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding 2017transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. PLP1 gene Elsevier Optic nerve enlargement Elsevier Pelizaeus–Merzbacher disease Elsevier Mutation Elsevier Ramachandran, Vijaya oth Govender, Veronica oth Wilson, Clare oth Das, Rini oth Vlachou, Victoria oth Pavlou, Evangelos oth Saggar, Anand oth Mankad, Kshitij oth Kinali, Maria oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:3 pages:271-274 extent:4 https://doi.org/10.1016/j.braindev.2016.09.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 3 271-274 4 045F 610 |
| allfields_unstemmed |
10.1016/j.braindev.2016.09.012 doi GBVA2017012000014.pica (DE-627)ELV030518415 (ELSEVIER)S0387-7604(16)30161-9 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl Pavlidou, Efterpi verfasserin aut A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding 2017transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. PLP1 gene Elsevier Optic nerve enlargement Elsevier Pelizaeus–Merzbacher disease Elsevier Mutation Elsevier Ramachandran, Vijaya oth Govender, Veronica oth Wilson, Clare oth Das, Rini oth Vlachou, Victoria oth Pavlou, Evangelos oth Saggar, Anand oth Mankad, Kshitij oth Kinali, Maria oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:3 pages:271-274 extent:4 https://doi.org/10.1016/j.braindev.2016.09.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 3 271-274 4 045F 610 |
| allfieldsGer |
10.1016/j.braindev.2016.09.012 doi GBVA2017012000014.pica (DE-627)ELV030518415 (ELSEVIER)S0387-7604(16)30161-9 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl Pavlidou, Efterpi verfasserin aut A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding 2017transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. PLP1 gene Elsevier Optic nerve enlargement Elsevier Pelizaeus–Merzbacher disease Elsevier Mutation Elsevier Ramachandran, Vijaya oth Govender, Veronica oth Wilson, Clare oth Das, Rini oth Vlachou, Victoria oth Pavlou, Evangelos oth Saggar, Anand oth Mankad, Kshitij oth Kinali, Maria oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:3 pages:271-274 extent:4 https://doi.org/10.1016/j.braindev.2016.09.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 3 271-274 4 045F 610 |
| allfieldsSound |
10.1016/j.braindev.2016.09.012 doi GBVA2017012000014.pica (DE-627)ELV030518415 (ELSEVIER)S0387-7604(16)30161-9 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.21 bkl Pavlidou, Efterpi verfasserin aut A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding 2017transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. PLP1 gene Elsevier Optic nerve enlargement Elsevier Pelizaeus–Merzbacher disease Elsevier Mutation Elsevier Ramachandran, Vijaya oth Govender, Veronica oth Wilson, Clare oth Das, Rini oth Vlachou, Victoria oth Pavlou, Evangelos oth Saggar, Anand oth Mankad, Kshitij oth Kinali, Maria oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:39 year:2017 number:3 pages:271-274 extent:4 https://doi.org/10.1016/j.braindev.2016.09.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 39 2017 3 271-274 4 045F 610 |
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English |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:39 year:2017 number:3 pages:271-274 extent:4 |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:39 year:2017 number:3 pages:271-274 extent:4 |
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Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations |
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Pavlidou, Efterpi @@aut@@ Ramachandran, Vijaya @@oth@@ Govender, Veronica @@oth@@ Wilson, Clare @@oth@@ Das, Rini @@oth@@ Vlachou, Victoria @@oth@@ Pavlou, Evangelos @@oth@@ Saggar, Anand @@oth@@ Mankad, Kshitij @@oth@@ Kinali, Maria @@oth@@ |
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a novel plp1 mutation associated with optic nerve enlargement in two siblings with pelizaeus–merzbacher disease: a new mri finding |
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A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding |
| abstract |
Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. |
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Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. |
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Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. |
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A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding |
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