Literature DB >> 25133278

Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.

D Arkadir, A Noreau, J S Goldman, G A Rouleau, R N Alcvalay.   

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Year:  2013        PMID： 25133278      PMCID： PMC4138605          DOI： 10.1111/ene.12284

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  6 in total

1.  NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Authors:  Stephan Klebe; Arnaud Lacour; Alexandra Durr; Tanya Stojkovic; Christel Depienne; Sylvie Forlani; Sandrine Poea-Guyon; Isabelle Vuillaume; Bernard Sablonniere; Patrick Vermersch; Alexis Brice; Giovanni Stevanin
Journal:  Neurogenetics       Date:  2007-01-05       Impact factor: 2.660

2.  Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.

Authors:  Juan Du; Ya-Cen Hu; Bei-Sha Tang; Chong Chen; Ying-Ying Luo; Zi-Xiong Zhan; Guo-Hua Zhao; Hong Jiang; Kun Xia; Lu Shen
Journal:  Clin Neurol Neurosurg       Date:  2011-03-17       Impact factor: 1.876

3.  NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.

Authors:  K Svenstrup; R S Møller; J Christensen; E Budtz-Jørgensen; M Gilling; J E Nielsen
Journal:  Eur J Neurol       Date:  2011-02-22       Impact factor: 6.089

4.  De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

Authors:  Shirley Rainier; Carron Sher; Orit Reish; Donald Thomas; John K Fink
Journal:  Arch Neurol       Date:  2006-03

5.  NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Authors:  Shirley Rainier; Jing-Hua Chai; Debra Tokarz; Robert D Nicholls; John K Fink
Journal:  Am J Hum Genet       Date:  2003-09-23       Impact factor: 11.025

6.  Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.

Authors:  Christian Beetz; Rebecca Schüle; Stephan Klebe; Sven Klimpe; Thomas Klopstock; Arnaud Lacour; Susanne Otto; Anne-Dorte Sperfeld; Bart van de Warrenburg; Ludger Schöls; Thomas Deufel
Journal:  J Neurol Sci       Date:  2008-01-14       Impact factor: 3.181
  6 in total
  3 in total

1.  Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

Authors:  Kyle W Davis; Moises Serrano; Sara Loddo; Catherine Robinson; Viola Alesi; Bruno Dallapiccola; Antonio Novelli; Merlin G Butler
Journal:  Int J Mol Sci       Date:  2019-03-22       Impact factor: 5.923

2.  Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.

Authors:  Jun Fu; Mingming Ma; Gang Li; Jiewen Zhang
Journal:  Front Genet       Date:  2022-04-08       Impact factor: 4.772

3.  Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study.

Authors:  Fang Cui; LiuQing Sun; Jie Qiao; JianYong Li; Mao Li; SiYu Chen; Bo Sun; XuSheng Huang
Journal:  Medicine (Baltimore)       Date:  2020-06-05       Impact factor: 1.817
  3 in total

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