Literature DB >> 31178018

The expanding spectrum of ATP1A3 related disease.

Cecilia Fernandes1, Mohamad A Mikati2.   

Abstract

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Year:  2019        PMID: 31178018     DOI: 10.1016/j.ejpn.2019.05.007

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


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  4 in total

1.  D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.

Authors:  Lyndsey Prange; Milton Pratt; Kristin Herman; Raphael Schiffmann; David M Mueller; Melissa McLean; Mary Moya Mendez; Nicole Walley; Erin L Heinzen; David Goldstein; Vandana Shashi; Arsen Hunanyan; Vijay Pagadala; Mohamad A Mikati
Journal:  Neurol Genet       Date:  2020-08-04

2.  Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.

Authors:  Arsen S Hunanyan; Boris Kantor; Ram S Puranam; Courtney Elliott; Angela McCall; Justin Dhindsa; Promila Pagadala; Keri Wallace; Jordan Poe; Talha Gunduz; Aravind Asokan; Dwight D Koeberl; Mai K ElMallah; Mohamad A Mikati
Journal:  Hum Gene Ther       Date:  2021-02-12       Impact factor: 5.695

3.  Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.

Authors:  Milton Pratt; Julie Uchitel; Nancy McGreal; Kelly Gordon; Lyndsey Prange; Melissa McLean; Richard J Noel; Blaire Rikard; Mary K Rogers Boruta; Mohamad A Mikati
Journal:  Orphanet J Rare Dis       Date:  2020-09-03       Impact factor: 4.123

4.  ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Authors:  Mary E Moya-Mendez; Chiagoziem Ogbonna; Jordan E Ezekian; Michael B Rosamilia; Lyndsey Prange; Caridad de la Uz; Jeffrey J Kim; Taylor Howard; John Garcia; Robert Nussbaum; Rebecca Truty; Thomas E Callis; Emily Funk; Matthew Heyes; Guy de Lisle Dear; Michael P Carboni; Salim F Idriss; Mohamad A Mikati; Andrew P Landstrom
Journal:  J Am Heart Assoc       Date:  2021-08-28       Impact factor: 5.501

  4 in total

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