Advanced search
Search:  

1 - 10 of 17 results found for RRM2B.

  1. RRM2B-related mitochondrial disease

    Disorders of mitochondrial DNA (mtDNA) maintenance are well-recognised causes of mitochondrial disease presentations in both adults and children. In this chapter, we review the expanding clinical spectrum associated with mutation of the

    http://iris.ucl.ac.uk/iris/publication/1037381/7

  2. KEARNS-SAYRE SYNDROME CAUSED BY MUTATIONS IN THE NUCLEAR RRM2B GENE

    http://iris.ucl.ac.uk/iris/publication/833593/11

  3. Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial...

    http://iris.ucl.ac.uk/iris/publication/408159/11

  4. RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS

    http://iris.ucl.ac.uk/iris/publication/319287/3

  5. Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA...

    http://iris.ucl.ac.uk/iris/publication/345464/3

  6. Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in...

    http://iris.ucl.ac.uk/iris/publication/309297/3

  7. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B...

    PURPOSE: Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history of

    http://iris.ucl.ac.uk/iris/publication/1686145/1

  8. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular...

    Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA deletions in adults,

    http://iris.ucl.ac.uk/iris/publication/838168/2

  9. Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

    BACKGROUND: Mutations in RRM2B encoding ribonucleotide reductase (RNR) p53R2 subunit usually cause paediatric-onset mitochondrial disease associated with mitochondrial DNA (mtDNA) depletion. The importance of RNR dysfunction in adult mitochondrial

    http://iris.ucl.ac.uk/iris/publication/295654/2

  10. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the...

    These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be

    http://iris.ucl.ac.uk/iris/publication/130430/2

  11. Page: 1 2