Literature DB >> 12424770

Prenatal diagnosis of Pelizaeus-Merzbacher disease.

James Garbern1, Grace Hobson.   

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Year:  2002        PMID： 12424770     DOI： 10.1002/pd.465

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  10 in total

1.  High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Authors:  B Bilir; Z Yapici; C Yalcinkaya; I Baris; C M B Carvalho; M Bartnik; B Ozes; M Eraksoy; J R Lupski; E Battaloglu
Journal:  Clin Genet       Date:  2012-02-20       Impact factor: 4.438

2.  Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy.

Authors:  Jufeng Xia; Ling Wang
Journal:  Intractable Rare Dis Res       Date:  2013-08

Review 3.  PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

Authors:  Ken Inoue
Journal:  Neurogenetics       Date:  2004-12-31       Impact factor: 2.660

4.  Neonatal chimerization with human glial progenitor cells can both remyelinate and rescue the otherwise lethally hypomyelinated shiverer mouse.

Authors:  Martha S Windrem; Steven J Schanz; Min Guo; Guo-Feng Tian; Vaughn Washco; Nancy Stanwood; Matthew Rasband; Neeta S Roy; Maiken Nedergaard; Leif A Havton; Su Wang; Steven A Goldman
Journal:  Cell Stem Cell       Date:  2008-06-05       Impact factor: 24.633

Review 5.  Neurogenetics of Pelizaeus-Merzbacher disease.

Authors:  M Joana Osório; Steven A Goldman
Journal:  Handb Clin Neurol       Date:  2018

Review 6.  Axon-glial interaction in the CNS: what we have learned from mouse models of Pelizaeus-Merzbacher disease.

Authors:  Fredrik I Gruenenfelder; Gemma Thomson; Jacques Penderis; Julia M Edgar
Journal:  J Anat       Date:  2011-03-14       Impact factor: 2.610

7.  Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

Authors:  Christine R Beck; Claudia M B Carvalho; Linda Banser; Tomasz Gambin; Danielle Stubbolo; Bo Yuan; Karen Sperle; Suzanne M McCahan; Marco Henneke; Pavel Seeman; James Y Garbern; Grace M Hobson; James R Lupski
Journal:  PLoS Genet       Date:  2015-03-06       Impact factor: 5.917

8.  Robust and efficient knock-in in embryonic stem cells and early-stage embryos of the common marmoset using the CRISPR-Cas9 system.

Authors:  Sho Yoshimatsu; Junko Okahara; Takefumi Sone; Yuta Takeda; Mari Nakamura; Erika Sasaki; Noriyuki Kishi; Seiji Shiozawa; Hideyuki Okano
Journal:  Sci Rep       Date:  2019-02-06       Impact factor: 4.379

9.  Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.

Authors:  Stefano Regis; Serena Grossi; Susanna Lualdi; Roberta Biancheri; Mirella Filocamo
Journal:  Neurogenetics       Date:  2005-04-13       Impact factor: 2.660

10.  Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.

Authors:  Fredrik I Gruenenfelder; Mark McLaughlin; Ian R Griffiths; James Garbern; Gemma Thomson; Peter Kuzman; Jennifer A Barrie; Maj-Lis McCulloch; Jacques Penderis; Ruth Stassart; Klaus-Armin Nave; Julia M Edgar
Journal:  Brain       Date:  2020-05-01       Impact factor: 13.501
  10 in total

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