Literature DB >> 29436745

Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.

Judy Pipo-Deveza1, Darcy Fehlings2, David Chitayat3,4,5, Grace Yoon3, Hana Sroka4, Ingrid Tein1,5.   

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Year:  2018        PMID： 29436745     DOI： 10.1002/mds.27320

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


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  3 in total

1.  Exome sequencing in paediatric patients with movement disorders.

Authors:  Anna Ka-Yee Kwong; Mandy Ho-Yin Tsang; Jasmine Lee-Fong Fung; Christopher Chun-Yu Mak; Kate Lok-San Chan; Richard J T Rodenburg; Monkol Lek; Shushu Huang; Sander Pajusalu; Man-Mut Yau; Cheung Tsoi; Sharon Fung; Kam-Tim Liu; Che-Kwan Ma; Sheila Wong; Eric Kin-Cheong Yau; Shuk-Mui Tai; Eva Lai-Wah Fung; Nick Shun-Ping Wu; Li-Yan Tsung; Jan Smeitink; Brian Hon-Yin Chung; Cheuk-Wing Fung
Journal:  Orphanet J Rare Dis       Date:  2021-01-15       Impact factor: 4.123

2.  Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Authors:  Diane Doummar; Marco Treven; Leila Qebibo; David Devos; Jamal Ghoumid; Claudia Ravelli; Gottfried Kranz; Martin Krenn; Diane Demailly; Laura Cif; Jean-Baptiste Davion; Fritz Zimprich; Lydie Burglen; Michael Zech
Journal:  Ann Clin Transl Neurol       Date:  2021-08-20       Impact factor: 4.511

3.  Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Authors:  Sheng Chih Jin; Sara A Lewis; Somayeh Bakhtiari; Xue Zeng; Michael C Sierant; Sheetal Shetty; Sandra M Nordlie; Aureliane Elie; Mark A Corbett; Bethany Y Norton; Clare L van Eyk; Shozeb Haider; Brandon S Guida; Helen Magee; James Liu; Stephen Pastore; John B Vincent; Janice Brunstrom-Hernandez; Antigone Papavasileiou; Michael C Fahey; Jesia G Berry; Kelly Harper; Chongchen Zhou; Junhui Zhang; Boyang Li; Hongyu Zhao; Jennifer Heim; Dani L Webber; Mahalia S B Frank; Lei Xia; Yiran Xu; Dengna Zhu; Bohao Zhang; Amar H Sheth; James R Knight; Christopher Castaldi; Irina R Tikhonova; Francesc López-Giráldez; Boris Keren; Sandra Whalen; Julien Buratti; Diane Doummar; Megan Cho; Kyle Retterer; Francisca Millan; Yangong Wang; Jeff L Waugh; Lance Rodan; Julie S Cohen; Ali Fatemi; Angela E Lin; John P Phillips; Timothy Feyma; Suzanna C MacLennan; Spencer Vaughan; Kylie E Crompton; Susan M Reid; Dinah S Reddihough; Qing Shang; Chao Gao; Iona Novak; Nadia Badawi; Yana A Wilson; Sarah J McIntyre; Shrikant M Mane; Xiaoyang Wang; David J Amor; Daniela C Zarnescu; Qiongshi Lu; Qinghe Xing; Changlian Zhu; Kaya Bilguvar; Sergio Padilla-Lopez; Richard P Lifton; Jozef Gecz; Alastair H MacLennan; Michael C Kruer
Journal:  Nat Genet       Date:  2020-09-28       Impact factor: 41.307
  3 in total

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