Literature DB >> 29620084

PLP1 mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.

Michael J Keogh1, Stephan R Jaiser1, Hannah E Steele1, Rita Horvath1, Patrick F Chinnery1, Mark R Baker1.   

Abstract

Entities:  

Year:  2017        PMID： 29620084      PMCID： PMC5874467          DOI： 10.1212/CPJ.0000000000000346

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN： 2163-0402


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  6 in total

1.  Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

Authors:  Ilka Warshawsky; Richard A Rudick; Susan M Staugaitis; Marvin R Natowicz
Journal:  Ann Neurol       Date:  2005-09       Impact factor: 10.422

2.  Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.

Authors:  M R Baker; K M Fisher; R G Whittaker; P G Griffiths; P Yu-Wai-Man; P F Chinnery
Journal:  Neurology       Date:  2011-09-14       Impact factor: 9.910

3.  X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.

Authors:  K Woodward; K Kirtland; S Dlouhy; W Raskind; T Bird; S Malcolm; D Abeliovich
Journal:  Eur J Hum Genet       Date:  2000-06       Impact factor: 4.246

4.  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

5.  Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.

Authors:  Mayumi Matsufuji; Hitoshi Osaka; Leo Gotoh; Hiroko Shimbo; Sachio Takashima; Ken Inoue
Journal:  Pediatr Neurol       Date:  2013-10-01       Impact factor: 3.372

6.  Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria.

Authors:  Chris H Polman; Stephen C Reingold; Brenda Banwell; Michel Clanet; Jeffrey A Cohen; Massimo Filippi; Kazuo Fujihara; Eva Havrdova; Michael Hutchinson; Ludwig Kappos; Fred D Lublin; Xavier Montalban; Paul O'Connor; Magnhild Sandberg-Wollheim; Alan J Thompson; Emmanuelle Waubant; Brian Weinshenker; Jerry S Wolinsky
Journal:  Ann Neurol       Date:  2011-02       Impact factor: 10.422
  6 in total

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