PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications
PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal si...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Qashqari, Hebah [verfasserIn] |
|---|
| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022transfer abstract |
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| Umfang: |
3 |
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| Übergeordnetes Werk: |
Enthalten in: Sperm competition in golden cuttlefish - Guo, Haoyu ELSEVIER, 2020, official journal of the World Muscle Society, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:32 ; year:2022 ; number:10 ; pages:842-844 ; extent:3 |
| Links: |
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| DOI / URN: |
10.1016/j.nmd.2022.09.007 |
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| 520 | |a PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. | ||
| 520 | |a PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. | ||
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| 700 | 1 | |a Hassan, Ahmad |4 oth | |
| 700 | 1 | |a Kulkarni, Tapas |4 oth | |
| 700 | 1 | |a Amburgey, Kimberly |4 oth | |
| 700 | 1 | |a Dowling, James J. |4 oth | |
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10.1016/j.nmd.2022.09.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001944.pica (DE-627)ELV059321202 (ELSEVIER)S0960-8966(22)00676-9 DE-627 ger DE-627 rakwb eng 570 550 VZ BIODIV DE-30 fid 48.68 bkl Qashqari, Hebah verfasserin aut PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications 2022transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. McNiven, Vanda oth Gonorazky, Hernan oth Mendoza-Londono, Roberto oth Hassan, Ahmad oth Kulkarni, Tapas oth Amburgey, Kimberly oth Dowling, James J. oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:32 year:2022 number:10 pages:842-844 extent:3 https://doi.org/10.1016/j.nmd.2022.09.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 32 2022 10 842-844 3 |
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10.1016/j.nmd.2022.09.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001944.pica (DE-627)ELV059321202 (ELSEVIER)S0960-8966(22)00676-9 DE-627 ger DE-627 rakwb eng 570 550 VZ BIODIV DE-30 fid 48.68 bkl Qashqari, Hebah verfasserin aut PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications 2022transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. McNiven, Vanda oth Gonorazky, Hernan oth Mendoza-Londono, Roberto oth Hassan, Ahmad oth Kulkarni, Tapas oth Amburgey, Kimberly oth Dowling, James J. oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:32 year:2022 number:10 pages:842-844 extent:3 https://doi.org/10.1016/j.nmd.2022.09.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 32 2022 10 842-844 3 |
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10.1016/j.nmd.2022.09.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001944.pica (DE-627)ELV059321202 (ELSEVIER)S0960-8966(22)00676-9 DE-627 ger DE-627 rakwb eng 570 550 VZ BIODIV DE-30 fid 48.68 bkl Qashqari, Hebah verfasserin aut PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications 2022transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. McNiven, Vanda oth Gonorazky, Hernan oth Mendoza-Londono, Roberto oth Hassan, Ahmad oth Kulkarni, Tapas oth Amburgey, Kimberly oth Dowling, James J. oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:32 year:2022 number:10 pages:842-844 extent:3 https://doi.org/10.1016/j.nmd.2022.09.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 32 2022 10 842-844 3 |
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10.1016/j.nmd.2022.09.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001944.pica (DE-627)ELV059321202 (ELSEVIER)S0960-8966(22)00676-9 DE-627 ger DE-627 rakwb eng 570 550 VZ BIODIV DE-30 fid 48.68 bkl Qashqari, Hebah verfasserin aut PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications 2022transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. McNiven, Vanda oth Gonorazky, Hernan oth Mendoza-Londono, Roberto oth Hassan, Ahmad oth Kulkarni, Tapas oth Amburgey, Kimberly oth Dowling, James J. oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:32 year:2022 number:10 pages:842-844 extent:3 https://doi.org/10.1016/j.nmd.2022.09.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 32 2022 10 842-844 3 |
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10.1016/j.nmd.2022.09.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001944.pica (DE-627)ELV059321202 (ELSEVIER)S0960-8966(22)00676-9 DE-627 ger DE-627 rakwb eng 570 550 VZ BIODIV DE-30 fid 48.68 bkl Qashqari, Hebah verfasserin aut PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications 2022transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. McNiven, Vanda oth Gonorazky, Hernan oth Mendoza-Londono, Roberto oth Hassan, Ahmad oth Kulkarni, Tapas oth Amburgey, Kimberly oth Dowling, James J. oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:32 year:2022 number:10 pages:842-844 extent:3 https://doi.org/10.1016/j.nmd.2022.09.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 32 2022 10 842-844 3 |
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PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications |
| abstract |
PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. |
| abstractGer |
PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. |
| abstract_unstemmed |
PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option. |
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10 |
| title_short |
PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications |
| url |
https://doi.org/10.1016/j.nmd.2022.09.007 |
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true |
| author2 |
McNiven, Vanda Gonorazky, Hernan Mendoza-Londono, Roberto Hassan, Ahmad Kulkarni, Tapas Amburgey, Kimberly Dowling, James J. |
| author2Str |
McNiven, Vanda Gonorazky, Hernan Mendoza-Londono, Roberto Hassan, Ahmad Kulkarni, Tapas Amburgey, Kimberly Dowling, James J. |
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ELV004843940 |
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| doi_str |
10.1016/j.nmd.2022.09.007 |
| up_date |
2024-07-06T21:38:24.184Z |
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1803867289482690560 |
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