Familial Dysautonomia and Mitochondrial Disorders
暂无分享,去创建一个
[1] H. Kaufmann,et al. Brainstem reflexes in patients with familial dysautonomia , 2012, Clinical Neurophysiology.
[2] H. Kaufmann,et al. Current treatments in familial dysautonomia , 2014, Expert opinion on pharmacotherapy.
[3] S. Rahman. Gastrointestinal and hepatic manifestations of mitochondrial disorders , 2013, Journal of Inherited Metabolic Disease.
[4] S. Rahman,et al. Complex I deficiency: clinical features, biochemistry and molecular genetics , 2012, Journal of Medical Genetics.
[5] M. Tarnopolsky,et al. Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases , 2012, Journal of Inherited Metabolic Disease.
[6] M. Hirano,et al. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. , 2011, Brain : a journal of neurology.
[7] H. Komuro,et al. A technical surgery for refractory gastroparesis in a patient with a mitochondrial disorder , 2010, Pediatric Surgery International.
[8] N. Bogot,et al. Chest computed tomography findings in familial dysautonomia patients: a model for aspiration. , 2009, The Israel Medical Association journal : IMAJ.
[9] F. Lammert,et al. Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy , 2009, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.
[10] A. Bender,et al. Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexia , 2009, Journal of Neurology.
[11] R. De Giorgio,et al. Molecular Pathogenesis of Genetic and Inherited Diseases Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion , 2010 .
[12] P. Kaufmann,et al. Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes , 2008, Annals of the New York Academy of Sciences.
[13] M. Valentino,et al. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches , 2007, Bioscience reports.
[14] G. Plazzi,et al. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. , 2006, Gastroenterology.
[15] V. Sundaram,et al. Gastroesophageal Reflux in Familial Dysautonomia: Correlation with Crisis Frequency and Sensory Dysfunction , 2005, Journal of pediatric gastroenterology and nutrition.
[16] M. Hirano,et al. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes , 2004, The neurologist.
[17] R. Sokol,et al. Gastrointestinal manifestations of mitochondrial disease. , 2003, Gastroenterology clinics of North America.
[18] J. Shoffner,et al. Abnormalities in Gastrointestinal Motility Are Associated With Diseases of Oxidative Phosphorylation in Children , 2003, American Journal of Gastroenterology.
[19] S. Servidei. Mitochondrial encephalomyopathies: gene mutation , 2001, Neuromuscular Disorders.
[20] T. Parsons,et al. Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract , 2001, Gut.
[21] M. Zupanc,et al. Ictal SPECT during autonomic crisis in familial dysautonomia , 2000, Neurology.
[22] E. Shoubridge,et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome , 1998, Nature Genetics.
[23] A. Szold,et al. Laparoscopic-modified Nissen fundoplication in children with familial dysautonomia. , 1996, Journal of pediatric surgery.
[24] D. Johns. Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease. , 1995, The New England journal of medicine.
[25] J. Faber,et al. Scintigraphic evaluation of esophageal transit and gastric emptying in familial dysautonomia. , 1994, European journal of radiology.
[26] S. Dimauro,et al. MELAS: An original case and clinical criteria for diagnosis , 1992, Neuromuscular Disorders.
[27] T. M. Kidder,et al. Manometric characteristics of cervical dysphagia in a patient with the Kearns-Sayre syndrome. , 1992, Gastroenterology.
[28] F. Axelrod,et al. Fundoplication and gastrostomy in familial dysautonomia. , 1991, The Journal of pediatrics.
[29] D. Dinour,et al. Megaesophagus and recurrent apnea in an adult patient with familial dysautonomia. , 1990, The American journal of gastroenterology.
[30] S. Morinaga,et al. Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy , 1984, Brain and Development.
[31] V. Bril,et al. Oculoskeletal Myopathy with Abnormal Mitochondria , 1984, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[32] M. Silbiger,et al. Familial dysautonomia. A cineradiographic study of the swallowing mechanism. , 1968, Radiology.