Literature DB >> 28017243

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

A Magariello1, C Russo2, L Citrigno1, S Züchner3, A Patitucci1, R Mazzei1, F L Conforti1, E Ferlazzo2, U Aguglia4, M Muglia5.   

Abstract

Entities:  

Keywords:  Exome sequencing; FA2H gene; Hereditary Spastic Paraplegia; SPG35

Mesh：

Substances：

Year:  2016        PMID： 28017243     DOI： 10.1016/j.jns.2016.11.069

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  3 in total

1.  FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Authors:  Tim W Rattay; Tobias Lindig; Jonathan Baets; Katrien Smets; Tine Deconinck; Anne S Söhn; Konstanze Hörtnagel; Kathrin N Eckstein; Sarah Wiethoff; Jennifer Reichbauer; Marion Döbler-Neumann; Ingeborg Krägeloh-Mann; Michaela Auer-Grumbach; Barbara Plecko; Alexander Münchau; Bernd Wilken; Marc Janauschek; Anne-Katrin Giese; Jan L De Bleecker; Els Ortibus; Martine Debyser; Adolfo Lopez de Munain; Aurora Pujol; Maria Teresa Bassi; Maria Grazia D'Angelo; Peter De Jonghe; Stephan Züchner; Peter Bauer; Ludger Schöls; Rebecca Schüle
Journal:  Brain       Date:  2019-06-01       Impact factor: 13.501

Review 2.  Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Authors:  Francesco Mari; Beatrice Berti; Alessandro Romano; Jacopo Baldacci; Riccardo Rizzi; M Grazia Alessandrì; Alessandra Tessa; Elena Procopio; Anna Rubegni; Charles Marques Lourenḉo; Alessandro Simonati; Renzo Guerrini; Filippo Maria Santorelli
Journal:  Neurogenetics       Date:  2018-02-08       Impact factor: 2.660

3.  Leukodystrophy-Like Presentation in a Child: A Case of Hereditary Spastic Paraparesis-35.

Authors:  Kiruthiga Sugumar; Aakash Chandran Chidambaram; Jaikumar Govindaswamy Ramamoorthy; Tamil Selvan
Journal:  Ann Indian Acad Neurol       Date:  2022-03-25       Impact factor: 1.714
  3 in total

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