Literature DB >> 29659736

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Nicole I Wolf1, Johannes Zschocke2, Cornelis Jakobs3, Dietz Rating4, Georg F Hoffmann5.   

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Year:  2018        PMID： 29659736     DOI： 10.1093/brain/awy095

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  2 in total

1.  Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Authors:  Juliette Piard; George K Essien Umanah; Frederike L Harms; Leire Abalde-Atristain; Daniel Amram; Melissa Chang; Rong Chen; Malik Alawi; Vincenzo Salpietro; Mark I Rees; Seo-Kyung Chung; Henry Houlden; Alain Verloes; Ted M Dawson; Valina L Dawson; Lionel Van Maldergem; Kerstin Kutsche
Journal:  Brain       Date:  2018-06-01       Impact factor: 13.501

2.  Congenital immobility and stiffness related to biallelic ATAD1 variants.

Authors:  Roxane Bunod; Diane Doummar; Sandra Whalen; Boris Keren; Sandra Chantot-Bastaraud; Kim Maincent; Marie-Charlotte Villy; Michèle Mayer; Diana Rodriguez; Lydie Burglen; Pierre-Louis Léger; François Kieffer; Isabelle Martin; Delphine Héron; Julien Buratti; Arnaud Isapof; Alexandra Afenjar; Thierry Billette de Villemeur; Cyril Mignot
Journal:  Neurol Genet       Date:  2020-09-24
  2 in total

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