Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
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J. Christodoulou | S. Rahman | M. Menezes | M. Ryan | M. Farrar | C. Ellaway | K. Bhattacharya | D. Thorburn | R. Ouvrier | Tyson L Ware | H. Sampaio | M. Pitt | Damian Clark | Yehani Wedatilake
[1] G. Plant,et al. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia , 2014, Brain : a journal of neurology.
[2] Z. Sheng,et al. Mitochondrial trafficking and anchoring in neurons: New insight and implications , 2014, The Journal of cell biology.
[3] M. Zeviani,et al. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease , 2013, Neurology.
[4] Robert W. Taylor,et al. SURF1 deficiency: a multi-centre natural history study , 2013, Orphanet Journal of Rare Diseases.
[5] Robert W. Taylor,et al. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? , 2012, Brain : a journal of neurology.
[6] Jacqueline A Palace,et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease , 2012, Neurology.
[7] M. Menezes,et al. Peripheral neuropathy associated with mitochondrial disease in children , 2012, Developmental medicine and child neurology.
[8] T. Matsuishi,et al. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene , 2012, Brain and Development.
[9] Qian Cai,et al. Mitochondrial transport in neurons: impact on synaptic homeostasis and neurodegeneration , 2012, Nature Reviews Neuroscience.
[10] M. Hirano,et al. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. , 2011, Brain : a journal of neurology.
[11] M. Kiernan,et al. Acute, Reversible Axonal Energy Failure During Stroke-Like Episodes in MELAS , 2010, Pediatrics.
[12] J. Milbrandt,et al. Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex , 2010, The Journal of Neuroscience.
[13] J. Pollard,et al. European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society — First Revision , 2010, European journal of neurology.
[14] L. Schöls,et al. ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS , 2009, Neurology.
[15] J. McCaffery,et al. Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion. , 2009, Molecular biology of the cell.
[16] A. Paetau,et al. Recessive twinkle mutations cause severe epileptic encephalopathy. , 2009, Brain : a journal of neurology.
[17] D. Bonneau,et al. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) , 2009, neurogenetics.
[18] J. Pollard,et al. Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations , 2008, Journal of neuropathology and experimental neurology.
[19] J. Ganesh,et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations , 2008, Human mutation.
[20] Yi-Chung Lee,et al. [Charcot-Marie-Tooth disease]. , 2008, Acta neurologica Taiwanica.
[21] Y. Crow,et al. Variable Phenotype Including Leigh Syndrome with a 9185T>C Mutation in the MTATP6 Gene , 2007, Neuropediatrics.
[22] M. Zeviani,et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. , 2006, Brain : a journal of neurology.
[23] D. Theriaque,et al. Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency. , 2006, Mitochondrion.
[24] S. Dimauro,et al. Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. , 2006, Archives of neurology.
[25] J. Pollard,et al. European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society , 2006, European journal of neurology.
[26] G. Mitchell,et al. Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency , 2006, European Journal of Pediatrics.
[27] S. Dimauro,et al. Dichloroacetate causes toxic neuropathy in MELAS , 2006, Neurology.
[28] P. Hollenbeck,et al. The axonal transport of mitochondria , 2005, Journal of Cell Science.
[29] Axel Niemann,et al. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network , 2005, The Journal of cell biology.
[30] A. Paetau,et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. , 2005, American journal of human genetics.
[31] M. Zeviani,et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. , 2005, Brain : a journal of neurology.
[32] M. Pericak-Vance,et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A , 2004, Nature Genetics.
[33] M. Hirano,et al. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes , 2004, The neurologist.
[34] P. Carney,et al. Juvenile-Onset Leigh Syndrome With an Acute Polyneuropathy at Presentation , 2003, Journal of child neurology.
[35] Erik E. Griffin,et al. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development , 2003, The Journal of cell biology.
[36] A. Green,et al. Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion. , 2002, American journal of medical genetics.
[37] S. Hinderer,et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. , 2000, Brain : a journal of neurology.
[38] R. Artuch,et al. [Aspects of neuropathy in mitochondrial diseases]. , 2000, Revista de neurologia.
[39] E. Naito,et al. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency. , 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[40] S. Scherer,et al. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. , 2000, Brain : a journal of neurology.
[41] S. Scherer. Axonal pathology in demyelinating diseases , 1999, Annals of neurology.
[42] S. Seneca,et al. Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency , 1997, Human Genetics.
[43] J Zhang,et al. Study of Nerve Conduction and Late Responses in Normal Chinese Infants, Children, and Adults , 1997, Journal of child neurology.
[44] J. Christodoulou,et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities , 1996, Annals of neurology.
[45] T. Ozawa,et al. Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation. , 1994, Journal of neurology, neurosurgery, and psychiatry.
[46] A. Munnich,et al. Leigh Syndrome: Pyruvate Dehydrogenase Defect. A Case With Peripheral Neuropathy , 1994, Journal of child neurology.
[47] G. Ponsot,et al. El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy , 1993, Pediatric Research.
[48] S. Seneca,et al. Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. , 1997, Human genetics.
[49] S. Coker. Leigh disease presenting as Guillain-Barré syndrome. , 1993, Pediatric neurology.
[50] D. Samuelson,et al. Chronic toxicity of dichloroacetate: possible relation to thiamine deficiency in rats. , 1990, Fundamental and applied toxicology : official journal of the Society of Toxicology.
[51] G. Guazzi,et al. Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. , 1990, European neurology.