Literature DB >> 10899455

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands.

J Poulton1, D M Turnbull.   

Abstract

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Year:  2000        PMID： 10899455     DOI： 10.1016/s0960-8966(00)00101-2

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  15 in total

1.  Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

Authors:  Diana Ballhausen; Frédéric Guerry; Dagmar Hahn; André Schaller; Jean-Marc Nuoffer; Luisa Bonafé; Pierre-Yves Jeannet; Sebastien Jacquemont
Journal:  J Inherit Metab Dis       Date:  2010-05-11       Impact factor: 4.982

Review 2.  Mitochondria.

Authors:  P F Chinnery; E A Schon
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-09       Impact factor: 10.154

3.  Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.

Authors:  J Steffann; N Frydman; N Gigarel; P Burlet; P F Ray; R Fanchin; E Feyereisen; V Kerbrat; G Tachdjian; J-P Bonnefont; R Frydman; A Munnich
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

Review 4.  Mitochondrial DNA mutations in human disease.

Authors:  Robert W Taylor; Doug M Turnbull
Journal:  Nat Rev Genet       Date:  2005-05       Impact factor: 53.242

5.  Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

Authors:  D T Brown; D C Samuels; E M Michael; D M Turnbull; P F Chinnery
Journal:  Am J Hum Genet       Date:  2000-12-29       Impact factor: 11.025

Review 6.  Transmission of mitochondrial DNA diseases and ways to prevent them.

Authors:  Joanna Poulton; Marcos R Chiaratti; Flávio V Meirelles; Stephen Kennedy; Dagan Wells; Ian J Holt
Journal:  PLoS Genet       Date:  2010-08-12       Impact factor: 5.917

Review 7.  Mitochondrial disorders: prevalence, myths and advances.

Authors:  D R Thorburn
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

8.  Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.

Authors:  Annelien Bredenoord; Wybo Dondorp; Guido Pennings; Christine de Die-Smulders; Bert Smeets; Guido de Wert
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246

Review 9.  Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Authors:  L Niers; L van den Heuvel; F Trijbels; R Sengers; J Smeitink
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 10.  The inheritance of pathogenic mitochondrial DNA mutations.

Authors:  L M Cree; D C Samuels; P F Chinnery
Journal:  Biochim Biophys Acta       Date:  2009-03-19
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