Literature DB >> 22517428

Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier.

István Gáti, Olof Danielsson, Cecilia Gunnarsson, Magnus Vrethem, Bo Häggqvist, Bengt-Arne Fredriksson, Anne-Marie Landtblom.   

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Year:  2012        PMID： 22517428     DOI： 10.1159/000336265

Source DB:  PubMed          Journal:  Eur Neurol        ISSN： 0014-3022            Impact factor:   1.710


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  3 in total

1.  Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.

Authors:  Mahjoubeh Jalali-Sefid-Dashti; Melissa Nel; Jeannine M Heckmann; Junaid Gamieldien
Journal:  BMC Med Genet       Date:  2018-06-07       Impact factor: 2.103

Review 2.  Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).

Authors:  Omar A Mahmood; Xin Mei Jiang
Journal:  Mol Med Rep       Date:  2014-03-13       Impact factor: 2.952

3.  Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.

Authors:  Omar Abdulmonem Mahmood; Xinmei Jiang; Qi Zhang
Journal:  Neural Regen Res       Date:  2013-07-15       Impact factor: 5.135
  3 in total

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