Literature DB >> 25209065

The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report.

G Querin1, C Bertolin, A Martinuzzi, M T Bassi, A Arnoldi, A Polo, E Pegoraro, G Sorarù.   

Abstract

Entities:  

Keywords:  ALS5; SPG11; Spatacsin; motoneuron disease

Year:  2014        PMID： 25209065     DOI： 10.1111/ene.12481

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


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  2 in total

1.  Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Authors:  Marzieh Khani; Hosein Shamshiri; Farzad Fatehi; Mohammad Rohani; Bahram Haghi Ashtiani; Fahimeh Haji Akhoundi; Afagh Alavi; Hamidreza Moazzeni; Hanieh Taheri; Mina Tolou Ghani; Leila Javanparast; Seyyed Saleh Hashemi; Ramona Haji-Seyed-Javadi; Matineh Heidari; Shahriar Nafissi; Elahe Elahi
Journal:  Mol Genet Genomic Med       Date:  2020-05-08       Impact factor: 2.183

2.  ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Authors:  Celeste Montecchiani; Lucia Pedace; Temistocle Lo Giudice; Antonella Casella; Marzia Mearini; Fabrizio Gaudiello; José L Pedroso; Chiara Terracciano; Carlo Caltagirone; Roberto Massa; Peter H St George-Hyslop; Orlando G P Barsottini; Toshitaka Kawarai; Antonio Orlacchio
Journal:  Brain       Date:  2015-11-10       Impact factor: 13.501
  2 in total

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