Clinical and laboratory findings in referrals for mitochondrial DNA analysis

Keywords

Embryo, Andrology, Biology, Cloning (programming), Animal science

References

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• Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome?Richard A. Berenberg, John M. Pellock, S. DiMauro — 1977
• An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionMassimo Zeviani, Serenella Servidei, Cinzia Gellera — 1989
• Diseases of the Nervous System in ChildhoodJean Aicardi — 1993
• Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.Agnès Rötig, Marco Colonna, Jean‐Paul Bonnefont — 1989
• The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeFilippo M. Santorelli, Sara Shanske, Alfons Macaya — 1993
• Mitochondrial DNA deletions in mitochondrial cytopathiesMasahiko Yamamoto, Paula R. Clemens, Andrew G. Engel — 1991
• Leigh Disease (Subacute Necrotizing Encephalomyelopathy): CT and MR in Five CasesCarl A. Geyer, K. Sartor, Arthur J. Prensky — 1988
• Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.Mary G. Sweeney, Simon Hammans, L. W. Duchen — 1994
• Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients.Margaret Jackson, Jochen Schaefer, Mark A. Johnson — 1995
• Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies.Edward Byrne, Ian A. Trounce, Xenia Dennett — 1988
• Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.Kyunglim L. Yoon, June R. Aprille, Susan G. Ernst — 1991
• A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndromeD. Daniëlle de Vries, Baziel G.M. van Engelen, F.J.M. Gabreëls — 1993
• Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNAIan Holt, A. E. Harding, Jonathan M. Cooper — 1989
• Maternally inherited Leigh syndrome.Emma Ciafaloni, Filippo M. Santorelli, Sara Shanske — 1993
• Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathiesIan Holt, A. E. Harding, J A Morgan-Hughes — 1988
• Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathiesMassimo Zeviani, C. Gallera, Marilou Pannacci — 1990
• 'Ophthalmoplegia plus' or Kearns-Sayre syndrome?L. P. Rowland — 1980
• Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.Samuel F. Berkovic, Stirling Carpenter, Alan C. Evans — 1989
• Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.Simon Hammans, M G Sweeney, Martin Brockington — 1991

Cited by

• Um estudo clínico, bioquímico, histoquímico e genético-molecular de pacientes com doenças do DNA mitocondrialCarolina Fischinger Moura de Souza — 2005
• Surveyor nuclease detection of mutations and polymorphisms of mtDNA in children.Jacek Pilch, Marek Asman, Ewa Jamroz — 2010
• Bull's-eye maculopathy in an infant with Leigh disease.Philip W. Laird, Brian G. Mohney, Deborah L. Renaud — 2006
• Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990–2001Rosetta Marotta, J. Chin, Anita Quigley — 2004
• Clinical and laboratory findings in referrals for mitochondrial DNA analysisSeiji Yanai, Peter Baxter, Chris Rittey — 1999
• Mitochondrial disorders: Prevalence, myths and advancesDavid R. Thorburn — 2004
• Diagnosis and management of mitochondrial respiratory chain disordersKaustuv Bhattacharya, Shamima Rahman, James V. Leonard — 2003
• Metabolic basis of pediatric heart diseaseVernat Exil, Marshall Summar, Mary Alyson Boles — 2005
• Mitochondrial dysfunction and the role of the non-specialist laboratoryMaggie Hancock — 2002
• Minimum birth prevalence of mitochondrial respiratory chain disorders in children.Daniela Skladal — 2003
• The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations.Santosh Mordekar, Philip A. I. Guthrie, James R. Bonham — 2006
• Presentation and diagnosis of mitochondrial disorders in children.Mary Kay Koenig — 2008
• Clinical and laboratory findings in referrals for mitochondrial DNA analysisA C J Hutchesson — 1999
• Neuropsychiatric Features in Primary Mitochondrial Disease.Samantha Marin, Russell P. Saneto — 2016
• Возможности агониста дофаминовых рецепторов прамипексола в лечении пациентов с болезнью ПаркинсонаС. Н. Иллариошкин — 2012
• Mechanisms involved in the accumulation of mitochrondrial DNA defects following anti-HIV therapyKristian Gardner — 2015
• UM ESTUDO CLÍNICO, BIOQUÍMICO, HISTOQUÍMICO E GENÉTICO-MOLECULAR DE PACIENTES COM DOENÇAS DODna Mitocondrial — 2005
• Diamine Derivatives Accelerate Photochemical C → U Transition in DNA Double StrandKenzo Fujimoto, Daiki Futamura, Takashi Sakamoto — 2013
• Effect of substitution of photo-cross-linker in photochemical cytosine to uracil transition in DNA.Siddhant Sethi, Yasuharu Takashima, Shigetaka Nakamura — 2017
• Pathology of Adult and Paediatric Mitochondrial MyopathiesRahul Phadke — 2017

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