Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

[1]  Robert W. Taylor,et al.  Disease progression in patients with single, large-scale mitochondrial DNA deletions , 2013, Brain : a journal of neurology.

[2]  M. Hanna,et al.  Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice , 2012, Neuromuscular Disorders.

[3]  S. Dimauro,et al.  Mitochondrial DNA Deletion Syndromes , 2011 .

[4]  A. Munnich,et al.  Pearson Syndrome in the Neonatal Period: Two Case Reports and Review of the Literature , 2009, Journal of pediatric hematology/oncology.

[5]  E. Ruiz-Pesini,et al.  CPEO and KSS differ in the percentage and location of the mtDNA deletion. , 2009, Mitochondrion.

[6]  R. Meuli,et al.  Early neurological impairment and severe anemia in a newborn with Pearson syndrome , 2009, European Journal of Pediatrics.

[7]  A. P. Riera,et al.  Kearns-Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle. , 2008, Journal of electrocardiology.

[8]  I. Nonaka,et al.  Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions , 2008, Journal of Human Genetics.

[9]  David C Samuels,et al.  What causes mitochondrial DNA deletions in human cells? , 2008, Nature Genetics.

[10]  Hsiu-Fen Lee,et al.  The neurological evolution of Pearson syndrome: case report and literature review. , 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[11]  P. Laforêt,et al.  Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? , 2007, Brain : a journal of neurology.

[12]  S. Dimauro Mitochondrial DNA Medicine , 2007, Bioscience reports.

[13]  刘金明,et al.  IL-13受体α2降低血吸虫病肉芽肿的炎症反应并延长宿主存活时间[英]/Mentink-Kane MM,Cheever AW,Thompson RW,et al//Proc Natl Acad Sci U S A , 2005 .

[14]  D. Troost,et al.  Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. , 2005, Neuropediatrics.

[15]  Robert W. Taylor,et al.  The epidemiology of mitochondrial disorders--past, present and future. , 2004, Biochimica et biophysica acta.

[16]  A. Kribben,et al.  Prognostic value of tubular proteinuria and enzymuria in nonoliguric acute tubular necrosis. , 2004, Clinical chemistry.

[17]  D. Thorburn,et al.  Minimum birth prevalence of mitochondrial respiratory chain disorders in children. , 2003, Brain : a journal of neurology.

[18]  N. Newman,et al.  Neuro-ophthalmology of mitochondrial diseases. , 2003, Seminars in neurology.

[19]  E. Mayatepek,et al.  Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. , 2002, American journal of medical genetics.

[20]  J. Hayashi,et al.  [Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes]. , 2001, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.

[21]  J. Leonard,et al.  Early onset of complete heart block in Pearson syndrome , 2000, Journal of Inherited Metabolic Disease.

[22]  A. Hutchesson Clinical and laboratory findings in referrals for mitochondrial DNA analysis , 1999, Archives of disease in childhood.

[23]  P. Lamont,et al.  Pearson’s syndrome without marrow involvement , 1997, Archives of disease in childhood.

[24]  T. Bourgeron,et al.  Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. , 1995, Human molecular genetics.

[25]  D. Turnbull,et al.  Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. , 1995, Brain : a journal of neurology.

[26]  H. Kawai,et al.  Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia , 1994, Clinical cardiology.

[27]  J. Cooper,et al.  Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA , 1989, Annals of neurology.

[28]  D. Wallace,et al.  Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[29]  M. Deadman,et al.  DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY , 1989, The Lancet.

[30]  A. Harding,et al.  Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies , 1988, Nature.

[31]  A. Vyskočil,et al.  Assessment of urinary retinol-binding protein as an index of proximal tubular injury. , 1987, Clinical chemistry.

[32]  L. Rowland Molecular genetics, pseudogenetics, and clinical neurology , 1983, Neurology.

[33]  R. Hoffman,et al.  A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. , 1979, The Journal of pediatrics.

[34]  S. Dimauro,et al.  Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome? , 1977, Annals of neurology.

[35]  D. Drachman Ophthalmoplegia Plus: The Neurodegenerative Disorders Associated With Progressive External Ophthalmoplegia , 1968 .

[36]  G. P. Sayre,et al.  Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. , 1958, A.M.A. archives of ophthalmology.

[37]  B. Källén Lumping or Splitting , 2016 .

[38]  T. Sprenger,et al.  Brain activations in the premonitory phase of nitroglycerin-triggered migraine attacks. , 2014, Brain : a journal of neurology.

[39]  G. Brown,et al.  Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. , 1993, Human molecular genetics.

[40]  E. Brett,et al.  Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. , 1991, American journal of human genetics.