Literature DB >> 18408091

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.

M-J Lee, T-W Cheng, M-S Hua, M-K Pan, J Wang, D A Stephenson, C-C Yang.   

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Year:  2008        PMID： 18408091     DOI： 10.1136/jnnp.2007.136390

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  9 in total

Review 1.  Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.

Authors:  Maryam Erfanian Omidvar; Shahram Torkamandi; Somaye Rezaei; Behnam Alipoor; Mir Davood Omrani; Hossein Darvish; Hamid Ghaedi
Journal:  J Neurol       Date:  2019-11-19       Impact factor: 4.849

2.  Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation.

Authors:  M-K Pan; S-C Huang; Y-C Lo; Chih-Chao Yang; T-W Cheng; Chi-Cheng Yang; M-S Hua; M-J Lee; W-Y I Tseng
Journal:  AJNR Am J Neuroradiol       Date:  2012-12-06       Impact factor: 3.825

3.  SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Authors:  Antonio Orlacchio; Carla Babalini; Antonella Borreca; Clarice Patrono; Roberto Massa; Sarenur Basaran; Renato P Munhoz; Ekaterina A Rogaeva; Peter H St George-Hyslop; Giorgio Bernardi; Toshitaka Kawarai
Journal:  Brain       Date:  2010-01-28       Impact factor: 13.501

4.  Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Authors:  Peter Bauer; Beate Winner; Rebecca Schüle; Claudia Bauer; Veronika Häfele; Ute Hehr; Michael Bonin; Michael Walter; Kathrin Karle; Thomas M Ringer; Olaf Riess; Jürgen Winkler; Ludger Schöls
Journal:  Neurogenetics       Date:  2008-09-12       Impact factor: 2.660

5.  SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Authors:  Mathieu Anheim; Clotilde Lagier-Tourenne; Giovanni Stevanin; Marie Fleury; Alexandra Durr; Izzie Jacques Namer; Paola Denora; Alexis Brice; Jean-Louis Mandel; Michel Koenig; Christine Tranchant
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

6.  Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Authors:  G Yoon; B Baskin; M Tarnopolsky; K M Boycott; M T Geraghty; E Sell; S Goobie; W Meschino; B Banwell; P N Ray
Journal:  Neurogenetics       Date:  2013-06-04       Impact factor: 2.660

7.  The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Authors:  Lorena Travaglini; Chiara Aiello; Fabrizia Stregapede; Adele D'Amico; Viola Alesi; Andrea Ciolfi; Alessandro Bruselles; Michela Catteruccia; Simone Pizzi; Ginevra Zanni; Sara Loddo; Sabina Barresi; Gessica Vasco; Marco Tartaglia; Enrico Bertini; Francesco Nicita
Journal:  Neurogenetics       Date:  2018-04-24       Impact factor: 2.660

8.  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

9.  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
  9 in total

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