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Material Type: Artigo
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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyMcFarland, Robert ; Kirby, Denise M. ; Fowler, Kerry J. ; Ohtake, Akira ; Ryan, Michael T. ; Amor, David J. ; Fletcher, Janice M. ; Dixon, Joanne W. ; Collins, Felicity A. ; Turnbull, Douglass M. ; Taylor, Robert W. ; Thorburn, David R.Annals of neurology, 2004-01, Vol.55 (1), p.58-64 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's diseaseKirby, Denise M. ; Boneh, Avihu ; Chow, C. W. ; Ohtake, Akira ; Ryan, Michael T. ; Thyagarajan, Dominic ; Thorburn, David R.Annals of neurology, 2003-10, Vol.54 (4), p.473-478 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's diseaseIshikawa, Atsushi ; Piao, Yue-Shan ; Miyashita, Akinori ; Kuwano, Ryozo ; Onodera, Osamu ; Ohtake, Hiroaki ; Suzuki, Masahiro ; Nishizawa, Masatoyo ; Takahashi, HitoshiAnnals of neurology, 2005-03, Vol.57 (3), p.429-434 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |