Literature DB >> 31190250

GNAO1 mutation presenting as dyskinetic cerebral palsy.

Maria João Malaquias1, Isabel Fineza2, Leal Loureiro3, Luís Cardoso4, Isabel Alonso5, Marina Magalhães6.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2019        PMID： 31190250     DOI： 10.1007/s10072-019-03964-7

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


× No keyword cloud information.
  11 in total

1.  GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.

Authors:  Michaela Waak; Shekeeb S Mohammad; David Coman; Kate Sinclair; Lisa Copeland; Peter Silburn; Terry Coyne; Jim McGill; Mary O'Regan; Richard Selway; Joseph Symonds; Padraic Grattan-Smith; Jean-Pierre Lin; Russell C Dale; Stephen Malone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-07-01       Impact factor: 10.154

2.  Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

Authors:  Neil Kulkarni; Sha Tang; Ratan Bhardwaj; Saunder Bernes; Theresa A Grebe
Journal:  J Child Neurol       Date:  2015-06-09       Impact factor: 1.987

Review 3.  Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.

Authors:  Sanem Yilmaz; Tuncer Turhan; Serdar Ceylaner; Sarenur Gökben; Hasan Tekgul; Gul Serdaroglu
Journal:  Childs Nerv Syst       Date:  2016-06-09       Impact factor: 1.475

4.  Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Authors:  Hirotomo Saitsu; Ryoko Fukai; Bruria Ben-Zeev; Yasunari Sakai; Masakazu Mimaki; Nobuhiko Okamoto; Yasuhiro Suzuki; Yukifumi Monden; Hiroshi Saito; Barak Tziperman; Michiko Torio; Satoshi Akamine; Nagahisa Takahashi; Hitoshi Osaka; Takanori Yamagata; Kazuyuki Nakamura; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Masaaki Shiina; Kazuhiro Ogata; Naomichi Matsumoto
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

Review 5.  Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.

Authors:  Tommaso Schirinzi; Giacomo Garone; Lorena Travaglini; Gessica Vasco; Serena Galosi; Loreto Rios; Claudia Castiglioni; Claudia Barassi; Domenica Battaglia; Maria Luigia Gambardella; Laura Cantonetti; Federica Graziola; Carlo Efisio Marras; Enrico Castelli; Enrico Bertini; Alessandro Capuano; Vincenzo Leuzzi
Journal:  Parkinsonism Relat Disord       Date:  2018-11-16       Impact factor: 4.891

Review 6.  A mechanistic review on GNAO1-associated movement disorder.

Authors:  Huijie Feng; Suad Khalil; Richard R Neubig; Christos Sidiropoulos
Journal:  Neurobiol Dis       Date:  2018-05-24       Impact factor: 5.996

7.  Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

Authors:  Anne Koy; Sebahattin Cirak; Victoria Gonzalez; Kerstin Becker; Thomas Roujeau; Christophe Milesi; Julien Baleine; Gilles Cambonie; Alain Boularan; Frederic Greco; Pierre-Francois Perrigault; Claude Cances; Nathalie Dorison; Diane Doummar; Agathe Roubertie; Christophe Beroud; Friederike Körber; Burkhard Stüve; Stephan Waltz; Cyril Mignot; Caroline Nava; Mohammad Maarouf; Philippe Coubes; Laura Cif
Journal:  J Neurol Sci       Date:  2018-05-22       Impact factor: 3.181

8.  Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

Authors:  Huijie Feng; Benita Sjögren; Behirda Karaj; Vincent Shaw; Aysegul Gezer; Richard R Neubig
Journal:  Neurology       Date:  2017-07-26       Impact factor: 9.910

9.  GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Authors:  Federica Rachele Danti; Serena Galosi; Marta Romani; Martino Montomoli; Keren J Carss; F Lucy Raymond; Elena Parrini; Claudia Bianchini; Tony McShane; Russell C Dale; Shekeeb S Mohammad; Ubaid Shah; Neil Mahant; Joanne Ng; Amy McTague; Rajib Samanta; Gayatri Vadlamani; Enza Maria Valente; Vincenzo Leuzzi; Manju A Kurian; Renzo Guerrini
Journal:  Neurol Genet       Date:  2017-03-21

10.  Genomic analysis identifies masqueraders of full-term cerebral palsy.

Authors:  Yusuke Takezawa; Atsuo Kikuchi; Kazuhiro Haginoya; Tetsuya Niihori; Yurika Numata-Uematsu; Takehiko Inui; Saeko Yamamura-Suzuki; Takuya Miyabayashi; Mai Anzai; Sato Suzuki-Muromoto; Yukimune Okubo; Wakaba Endo; Noriko Togashi; Yasuko Kobayashi; Akira Onuma; Ryo Funayama; Matsuyuki Shirota; Keiko Nakayama; Yoko Aoki; Shigeo Kure
Journal:  Ann Clin Transl Neurol       Date:  2018-03-26       Impact factor: 4.511
View more
  6 in total

1.  Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

Authors:  Andrés Moreno-De-Luca; Francisca Millan; Denis R Pesacreta; Houda Z Elloumi; Matthew T Oetjens; Claire Teigen; Karen E Wain; Julie Scuffins; Scott M Myers; Rebecca I Torene; Vladimir G Gainullin; Kevin Arvai; H Lester Kirchner; David H Ledbetter; Kyle Retterer; Christa L Martin
Journal:  JAMA       Date:  2021-02-02       Impact factor: 56.272

2.  Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.

Authors:  Antonio Federico
Journal:  Neurol Sci       Date:  2020-03       Impact factor: 3.307

3.  Both subthalamic and pallidal deep brain stimulation are effective for GNAO1-associated dystonia: three case reports and a literature review.

Authors:  Ye Liu; Qingping Zhang; Jun Wang; Jiyuan Liu; Wuyang Yang; Xuejing Yan; Yi Ouyang; Haibo Yang
Journal:  Ther Adv Neurol Disord       Date:  2022-04-29       Impact factor: 6.430

4.  GNAO1 as a Novel Predictive Biomarker for Late Relapse in Hepatocellular Carcinoma.

Authors:  Meiling Du; Jie Feng; Yiran Tao; Qincong Pan; Fengyuan Chen
Journal:  J Healthc Eng       Date:  2021-11-30       Impact factor: 2.682

Review 5.  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

6.  Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Authors:  Zainab Al Masseri; Moeenaldeen AlSayed
Journal:  Mol Genet Metab Rep       Date:  2022-04-18
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.