Literature DB >> 28628939

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.

David C Schorling1, Tobias Dietel2, Christina Evers3, Katrin Hinderhofer3, Rudolf Korinthenberg1, Daniel Ezzo4, Carsten G Bönnemann4, Janbernd Kirschner1.   

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Year:  2017        PMID： 28628939     DOI： 10.1055/s-0037-1603977

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  9 in total

1.  Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Authors:  McKenna Kelly; Meredith Park; Ivana Mihalek; Anne Rochtus; Marie Gramm; Eduardo Pérez-Palma; Erika Takle Axeen; Christina Y Hung; Heather Olson; Lindsay Swanson; Irina Anselm; Lauren C Briere; Frances A High; David A Sweetser; Saima Kayani; Molly Snyder; Sophie Calvert; Ingrid E Scheffer; Edward Yang; Jeff L Waugh; Dennis Lal; Olaf Bodamer; Annapurna Poduri
Journal:  Epilepsia       Date:  2019-01-25       Impact factor: 5.864

Review 2.  Emerging Monogenic Complex Hyperkinetic Disorders.

Authors:  Miryam Carecchio; Niccolò E Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2017-10-30       Impact factor: 5.081

3.  Gαo (GNAO1) encephalopathies: plasma membrane vs. Golgi functions.

Authors:  Gonzalo P Solis; Vladimir L Katanaev
Journal:  Oncotarget       Date:  2017-10-25

Review 4.  Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

Authors:  Lucia Abela; Manju A Kurian
Journal:  J Inherit Metab Dis       Date:  2018-06-13       Impact factor: 4.982

5.  Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.

Authors:  Soo Yeon Kim; YoungKyu Shim; Young Joon Ko; Soojin Park; Se Song Jang; Byung Chan Lim; Ki Joong Kim; Jong-Hee Chae
Journal:  Orphanet J Rare Dis       Date:  2020-12-09       Impact factor: 4.123

6.  Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Authors:  Carlotta Spagnoli; Carlo Fusco; Antonio Percesepe; Vincenzo Leuzzi; Francesco Pisani
Journal:  Int J Mol Sci       Date:  2021-04-18       Impact factor: 5.923

7.  Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.

Authors:  Denis Silachev; Alexey Koval; Mikhail Savitsky; Guru Padmasola; Charles Quairiaux; Fabrizio Thorel; Vladimir L Katanaev
Journal:  Acta Neuropathol Commun       Date:  2022-01-28       Impact factor: 7.801

Review 8.  Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.

Authors:  Serena Galosi; Luca Pollini; Maria Novelli; Katerina Bernardi; Martina Di Rocco; Simone Martinelli; Vincenzo Leuzzi
Journal:  Front Neurol       Date:  2022-08-08       Impact factor: 4.086

9.  Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.

Authors:  Huijie Feng; Casandra L Larrivee; Elena Y Demireva; Huirong Xie; Jeff R Leipprandt; Richard R Neubig
Journal:  PLoS One       Date:  2019-01-25       Impact factor: 3.240
  9 in total

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