Literature DB >> 28949041

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Silvia Esposito1, Miryam Carecchio1,2,3, Davide Tonduti1, Veronica Saletti1, Celeste Panteghini2, Luisa Chiapparini4, Giovanna Zorzi1, Chiara Pantaleoni1, Barbara Garavaglia2, Dimitri Krainc5, Steven J Lubbe5, Nardo Nardocci1, Niccolò E Mencacci5.   

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Year:  2017        PMID： 28949041     DOI： 10.1002/mds.27175

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  8 in total

Review 1.  Genetic updates on paroxysmal dyskinesias.

Authors:  James Y Liao; Philippe A Salles; Umar A Shuaib; Hubert H Fernandez
Journal:  J Neural Transm (Vienna)       Date:  2021-04-30       Impact factor: 3.575

2.  Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.

Authors:  Serena Galosi; Luca Pollini; Francesca Nardecchia; Elena Cellini; Renzo Guerrini; Vincenzo Leuzzi
Journal:  Mov Disord Clin Pract       Date:  2022-09-11

Review 3.  ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

Authors:  Nirosen Vijiaratnam; Kailash P Bhatia; Anthony E Lang; Wendy H Raskind; Alberto J Espay
Journal:  Mov Disord Clin Pract       Date:  2019-08-19

Review 4.  Emerging Monogenic Complex Hyperkinetic Disorders.

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

Review 5.  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

6.  Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme.

Authors:  Gonzalo S Tejeda; Ellanor L Whiteley; Tarek Z Deeb; Roland W Bürli; Stephen J Moss; Eamonn Sheridan; Nicholas J Brandon; George S Baillie
Journal:  Proc Natl Acad Sci U S A       Date:  2019-12-23       Impact factor: 11.205

Review 7.  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

8.  Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Authors:  Shekeeb S Mohammad; Rajeshwar Reddy Angiti; Andrew Biggin; Hugo Morales-Briceño; Robert Goetti; Belen Perez-Dueñas; Allison Gregory; Penelope Hogarth; Joanne Ng; Apostolos Papandreou; Kaustuv Bhattacharya; Shamima Rahman; Kristina Prelog; Richard I Webster; Evangeline Wassmer; Susan Hayflick; John Livingston; Manju Kurian; W Kling Chong; Russell C Dale
Journal:  Brain Commun       Date:  2020-10-26
  8 in total

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