Literature DB >> 31578651

A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome.

Valentina Pelliccia1, Silvia Ferranti2, Rosa Mostardini3, Salvatore Grosso1,3.   

Abstract

Entities:  

Mesh：

Year:  2019        PMID： 31578651     DOI： 10.1007/s10072-019-04075-z

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


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  5 in total

1.  Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome.

Authors:  Linda Bamonte
Journal:  Pediatr Phys Ther       Date:  2015       Impact factor: 3.049

2.  A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Authors:  Flore Zufferey; Elliott H Sherr; Noam D Beckmann; Ellen Hanson; Anne M Maillard; Loyse Hippolyte; Aurélien Macé; Carina Ferrari; Zoltán Kutalik; Joris Andrieux; Elizabeth Aylward; Mandy Barker; Raphael Bernier; Sonia Bouquillon; Philippe Conus; Bruno Delobel; W Andrew Faucett; Robin P Goin-Kochel; Ellen Grant; Louise Harewood; Jill V Hunter; Sébastien Lebon; David H Ledbetter; Christa Lese Martin; Katrin Männik; Danielle Martinet; Pratik Mukherjee; Melissa B Ramocki; Sarah J Spence; Kyle J Steinman; Jennifer Tjernagel; John E Spiro; Alexandre Reymond; Jacques S Beckmann; Wendy K Chung; Sébastien Jacquemont
Journal:  J Med Genet       Date:  2012-10       Impact factor: 6.318

3.  16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Authors:  Kyle J Steinman; Sarah J Spence; Melissa B Ramocki; Monica B Proud; Sudha K Kessler; Elysa J Marco; LeeAnne Green Snyder; Debra D'Angelo; Qixuan Chen; Wendy K Chung; Elliott H Sherr
Journal:  Am J Med Genet A       Date:  2016-07-13       Impact factor: 2.578

Review 4.  Friedreich Ataxia: current status and future prospects.

Authors:  Katrin Bürk
Journal:  Cerebellum Ataxias       Date:  2017-04-07

Review 5.  Friedreich's ataxia: clinical features, pathogenesis and management.

Authors:  A Cook; P Giunti
Journal:  Br Med Bull       Date:  2017-12-01       Impact factor: 4.291
  5 in total

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