Literature DB >> 19705472

Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1.

Eppie M Yiu, Sandra A Farrell, Teesta Soman.   

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Year:  2009        PMID： 19705472     DOI： 10.1002/mds.22734

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  3 in total

1.  Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Authors:  C M B Carvalho; M Bartnik; D Pehlivan; P Fang; J Shen; J R Lupski
Journal:  Clin Genet       Date:  2011-06-20       Impact factor: 4.438

2.  Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Authors:  Keiko Yamamoto-Shimojima; Taichi Imaizumi; Yusuke Aoki; Ken Inoue; Tadashi Kaname; Yusuke Okuno; Hideki Muramatsu; Kohji Kato; Toshiyuki Yamamoto
Journal:  J Hum Genet       Date:  2019-04-19       Impact factor: 3.172

3.  Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Authors:  Julien Masliah-Planchon; Céline Dupont; George Vartzelis; Aurélien Trimouille; Eléonore Eymard-Pierre; Mathilde Gay-Bellile; Florence Renaldo; Imen Dorboz; Cécile Pagan; Samuel Quentin; Monique Elmaleh; Christina Kotsogianni; Elissavet Konstantelou; Séverine Drunat; Anne-Claude Tabet; Odile Boespflug-Tanguy
Journal:  BMC Med Genet       Date:  2015-09-02       Impact factor: 2.103
  3 in total

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