Literature DB >> 15207873

Genetic testing in neuromuscular disease.

Karen M Krajewski1, Michael E Shy.   

Abstract

With the completion of the human genome, the availability of genetic testing is becoming widespread at a rapid pace. Testing for rare neurologic conditions often is possible. With the availability of this testing, it becomes necessary for the physician to be able to determine the potential benefits of testing and when and what testing is warranted. Understanding testing methods,interpreting complex results, and dealing with the ethical, social,and personal issues that arise for patients and families is critical for their care.

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Year:  2004        PMID: 15207873     DOI: 10.1016/j.ncl.2004.03.003

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  4 in total

1.  Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

Authors:  Anita S D Saporta; Stephanie L Sottile; Lindsey J Miller; Shawna M E Feely; Carly E Siskind; Michael E Shy
Journal:  Ann Neurol       Date:  2011-01       Impact factor: 10.422

Review 2.  Inherited peripheral neuropathies.

Authors:  Mario A Saporta; Michael E Shy
Journal:  Neurol Clin       Date:  2013-03-05       Impact factor: 3.806

3.  Strategy for genetic testing in Charcot-Marie-disease.

Authors:  L J Miller; A S D Saporta; S L Sottile; C E Siskind; S M E Feely; M E Shy
Journal:  Acta Myol       Date:  2011-10

Review 4.  Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.

Authors:  Judith Kruse; Regina Mueller; Ali A Aghdassi; Markus M Lerch; Sabine Salloch
Journal:  Front Genet       Date:  2022-01-26       Impact factor: 4.599

  4 in total

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