Literature DB >> 25433428

Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.

Fei Xie1, Zhi-Dong Cen, Jian-Feng Xiao, Wei Luo.   

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Year:  2014        PMID： 25433428     DOI： 10.1007/s10072-014-2018-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  5 in total

1.  The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

Authors:  Y Yang; A Hentati; H X Deng; O Dabbagh; T Sasaki; M Hirano; W Y Hung; K Ouahchi; J Yan; A C Azim; N Cole; G Gascon; A Yagmour; M Ben-Hamida; M Pericak-Vance; F Hentati; T Siddique
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

2.  A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.

Authors:  S Hadano; C K Hand; H Osuga; Y Yanagisawa; A Otomo; R S Devon; N Miyamoto; J Showguchi-Miyata; Y Okada; R Singaraja; D A Figlewicz; T Kwiatkowski; B A Hosler; T Sagie; J Skaug; J Nasir; R H Brown; S W Scherer; G A Rouleau; M R Hayden; J E Ikeda
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

3.  Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Authors:  Eleonore Eymard-Pierre; Gaetan Lesca; Sandra Dollet; Filippo Maria Santorelli; Matteo di Capua; Enrico Bertini; Odile Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  2002-07-26       Impact factor: 11.025

4.  A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.

Authors:  Hatice Koçak Eker; Süleyman Ersin Unlü; Fatema Al-Salmi; Andrew H Crosby
Journal:  Eur J Med Genet       Date:  2014-04-03       Impact factor: 2.708

5.  Alsin related disorders: literature review and case study with novel mutations.

Authors:  Filipa Flor-de-Lima; Mafalda Sampaio; Nahid Nahavandi; Susana Fernandes; Miguel Leão
Journal:  Case Rep Genet       Date:  2014-09-14
  5 in total
  2 in total

1.  Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Authors:  Mayada Helal; Neda Mazaheri; Bita Shalbafan; Reza Azizi Malamiri; Nafi Dilaver; Rebecca Buchert; Javad Mohammadiasl; Neda Golchin; Alireza Sedaghat; Mohammad Yahya Vahidi Mehrjardi; Tobias B Haack; Olaf Riess; Wendy K Chung; Hamid Galehdari; Gholamreza Shariati; Reza Maroofian
Journal:  Neurol Sci       Date:  2018-08-21       Impact factor: 3.307

2.  Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

Authors:  Kai Sato; Asako Otomo; Mahoko Takahashi Ueda; Yui Hiratsuka; Kyoko Suzuki-Utsunomiya; Junya Sugiyama; Shuji Murakoshi; Shun Mitsui; Suzuka Ono; So Nakagawa; Hui-Fang Shang; Shinji Hadano
Journal:  J Biol Chem       Date:  2018-09-17       Impact factor: 5.157
  2 in total

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