Literature DB >> 27821570

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

Colin Quinn1, Steven A Moore2, Tanya M Bardakjian2, Chafic Karam2.   

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Year:  2016        PMID： 27821570      PMCID： PMC5109952          DOI： 10.1212/WNL.0000000000003320

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

Review 1.  A pattern recognition approach to patients with a suspected myopathy.

Authors:  Richard J Barohn; Mazen M Dimachkie; Carlayne E Jackson
Journal:  Neurol Clin       Date:  2014-08       Impact factor: 3.806

2.  A new phenotype of dysferlinopathy with congenital onset.

Authors:  C Paradas; L González-Quereda; N De Luna; E Gallardo; I García-Consuegra; H Gómez; A Cabello; I Illa; P Gallano
Journal:  Neuromuscul Disord       Date:  2008-12-11       Impact factor: 4.296

3.  Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Authors:  Karine Nguyen; Guillaume Bassez; Martin Krahn; Rafaelle Bernard; Pascal Laforêt; Véronique Labelle; Jon Andoni Urtizberea; Dominique Figarella-Branger; Norma Romero; Shahram Attarian; France Leturcq; Jean Pouget; Nicolas Lévy; Bruno Eymard
Journal:  Arch Neurol       Date:  2007-08

4.  Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

Authors:  J Liu; M Aoki; I Illa; C Wu; M Fardeau; C Angelini; C Serrano; J A Urtizberea; F Hentati; M B Hamida; S Bohlega; E J Culper; A A Amato; K Bossie; J Oeltjen; K Bejaoui; D McKenna-Yasek; B A Hosler; E Schurr; K Arahata; P J de Jong; R H Brown
Journal:  Nat Genet       Date:  1998-09       Impact factor: 38.330

5.  Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.

Authors:  Ozge Ceyhan-Birsoy; Beril Talim; Lindsay C Swanson; Mert Karakaya; Michelle A Graff; Alan H Beggs; Haluk Topaloglu
Journal:  J Neuromuscul Dis       Date:  2015
  5 in total
  2 in total

1.  Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.

Authors:  Jennifer M Martinez-Thompson; Zhiyv Niu; Jennifer A Tracy; Steven A Moore; Andrea Swenson; Eric D Wieben; Margherita Milone
Journal:  Muscle Nerve       Date:  2017-09-30       Impact factor: 3.217

2.  The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Authors:  Nicole Becker; Steven A Moore; Karra A Jones
Journal:  Acta Neuropathol Commun       Date:  2022-02-08       Impact factor: 7.801
  2 in total

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