Literature DB >> 19318926

Griscelli syndrome type 1: a report of two cases and review of the literature.

Ellen R Thomas1, Lisa J Walker, Sunil Pullaperuma, Beatrice Cooper, Louise A Brueton, Geneviéve de Saint Basile, Mohnish Suri, Angela F Brady.   

Abstract

Mesh：

Year:  2009        PMID： 19318926     DOI： 10.1097/MCD.0b013e328317b870

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

Review 1.  Myosin motors at neuronal synapses: drivers of membrane transport and actin dynamics.

Authors:  Matthias Kneussel; Wolfgang Wagner
Journal:  Nat Rev Neurosci       Date:  2013-03-13       Impact factor: 34.870

2.  Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Authors:  Deniz Cağdaş; Tuba Turul Ozgür; Gülten Türkkanı Asal; Ilhan Tezcan; Ayşe Metin; Nathalie Lambert; Geneiveve de Saint Basile; Ozden Sanal
Journal:  Eur J Pediatr       Date:  2012-06-19       Impact factor: 3.183

3.  MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.

Authors:  Matthias Christen; Madeleine de le Roi; Vidhya Jagannathan; Kathrin Becker; Tosso Leeb
Journal:  Genes (Basel)       Date:  2021-09-23       Impact factor: 4.096
  3 in total

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