Literature DB >> 28283601

Early-onset head titubation in a child with Poretti-Boltshauser syndrome.

Riccardo Masson1, Elena Piretti1, Serena Pellegrin1, Elena Gusson1, Andrea Poretti1, Enza Maria Valente1, Gaetano Cantalupo2.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28283601     DOI： 10.1212/WNL.0000000000003823

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  3 in total

1.  Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

Authors:  Muhsin Elmas; Basak Gogus; Mustafa Solak
Journal:  Clin Med Insights Case Rep       Date:  2020-08-18

2.  Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Authors:  Laura Powell; Eric Olinger; Sarah Wedderburn; Vijayalakshmi Salem Ramakumaran; Usha Kini; Jill Clayton-Smith; Simon C Ramsden; Sarah J Rice; Miguel Barroso-Gil; Ian Wilson; Lorraine Cowley; Sally Johnson; Elizabeth Harris; Tara Montgomery; Marta Bertoli; Eugen Boltshauser; John A Sayer
Journal:  Brain Commun       Date:  2021-07-16

3.  Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping.

Authors:  Min Chen; Min Zhang; Yeqing Qian; Yanmei Yang; Yixi Sun; Bei Liu; Liya Wang; Minyue Dong
Journal:  NPJ Genom Med       Date:  2020-08-12       Impact factor: 8.617
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.