Literature DB >> 30705080

Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy.

Farah Thabet1, Kalthoum Tlili-Graiess2, Brahim Tabarki1.   

Abstract

Entities:  

Keywords:  cerebral palsy; ddhd2 gene; spasticity

Year:  2019        PMID： 30705080     DOI： 10.1136/archdischild-2018-316484

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  2 in total

1.  Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Authors:  Francesco Nicita; Fabrizia Stregapede; Alessandra Tessa; Maria Teresa Bassi; Aleksandra Jezela-Stanek; Guido Primiano; Antonio Pizzuti; Melissa Barghigiani; Marta Nardella; Ginevra Zanni; Serenella Servidei; Guja Astrea; Elena Panzeri; Cristina Maghini; Luciana Losito; Rafal Ploski; Piotr Gasperowicz; Filippo Maria Santorelli; Enrico Bertini; Lorena Travaglini
Journal:  J Neurol       Date:  2019-07-13       Impact factor: 4.849

2.  Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.

Authors:  Xin Xu; Fen Lu; Senjie Du; Xiaoke Zhao; Hongying Li; Li Zhang; Jian Tang
Journal:  Front Pediatr       Date:  2022-08-26       Impact factor: 3.569
  2 in total

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