1. P. Laforet, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, I. Penisson-Besnier, B. Chabrol, D. Chaigne, O. Boespflug-Tanguy, C. Laroche, A. L. Bedat-Millet, A. Behin, I. Delevaux, A. Lombes, B. S. Andresen, B. Eymard, and C. Vianey-Saban. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord, 19(5):324-9, 2009. Note: Journal ArticleEnglandNmd. [WWW] Keyword(s): Acyl-CoA Dehydrogenase, Long-Chain/*genetics, Adolescent, Adult, Biological Markers/analysis/blood, Carnitine/analogs & derivatives/analysis/blood, Cells, Cultured, Child, DNA Mutational Analysis, Exercise Tolerance/genetics, Female, Genetic Screening, Genotype, Heterozygote, Homozygote, Humans, Male, Metabolism, Inborn Errors/diagnosis/enzymology/genetics, Middle Aged, Mitochondrial Diseases/*diagnosis/*enzymology/genetics, Muscle Weakness/enzymology/genetics/physiopathology, Muscular Diseases/*diagnosis/*enzymology/genetics, Mutation/genetics, Rhabdomyolysis/enzymology/genetics/physiopathology, Young Adult.



2. E. Maillart, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, C. Jardel, A. Lombes, B. Eymard, C. Vianey-Saban, and P. Laforet. [Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]. Rev Neurol (Paris), 2009. Note: Journal article. [WWW]



3. K. Aure, H. Ogier de Baulny, P. Laforet, C. Jardel, B. Eymard, and A. Lombes. Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?. Brain, 130(Pt 6):1516-24, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Child, Child, Preschool, DNA, Mitochondrial/blood/*genetics, Disease Progression, Follow-Up Studies, Gene Deletion, *Gene Rearrangement, Humans, Kearns-Sayer Syndrome/genetics, Middle Aged, Ophthalmoplegia, Chronic Progressive External/*genetics, Prognosis, Retrospective Studies, Risk Factors.



4. K. Aure, H. O. de Baulny, P. Laforet, C. Jardel, B. Eymard, and A. Lombes. Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?. Brain, 130:1516-1524, 2007. Note: Part 6183IATimes Cited:0Cited References Count:34. [WWW] Keyword(s): mitochondrial disease, deletion, kearns-sayre syndrome, cpeo, natural history, mitochondrial-DNA deletions, marrow-pancreas syndrome, external ophthalmoplegia, pearson-syndrome, tissue distribution, muscle-fibers, myopathies, duplications, plus.



5. R. Ben Yaou, P. Laforet, H. M. Becane, C. Jardel, D. Sternberg, A. Lombes, and B. Eymard. [Misdiagnosis of mitochondrial myopathies: a study of 12 thymectomized patients]. Rev Neurol (Paris), 162(3):339-46, 2006. Note: Case ReportsEnglish AbstractJournal ArticleResearch Support, Non-U.S. Gov'tFrance. [WWW] Keyword(s): Administration, Oral, Adolescent, Adult, Aged, Blepharoptosis/etiology, Cardiomyopathies/etiology, Child, Child, Preschool, Cholinesterase Inhibitors/administration & dosage/diagnostic use, DNA, Mitochondrial/genetics, *Diagnostic Errors, Disease Progression, Electromyography, Electron Transport Complex IV/analysis, Female, Hearing Loss, Sensorineural/etiology, Humans, Injections, Male, Middle Aged, Mitochondrial Myopathies/complications/*diagnosis/genetics/pathology, Muscle Fatigue, Muscle Fibers/enzymology/ultrastructure, Myasthenia Gravis/*diagnosis, Neurologic Examination, Ocular Motility Disorders/etiology, Retrospective Studies, *Thymectomy, *Unnecessary Procedures.



6. E. Fournier, K. Viala, H. Gervais, D. Sternberg, M. Arzel-Hezode, P. Laforet, B. Eymard, N. Tabti, J. C. Willer, C. Vial, and B. Fontaine. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol, 60(3):356-65, 2006. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Action Potentials/physiology, Adolescent, Adult, Aged, Calcium Channels/genetics/physiology, *Cold, Electromyography/*methods, Exercise Test/methods, Female, Humans, Ion Channels/classification/*genetics, Male, Middle Aged, Muscle, Skeletal/physiology, *Mutation, Myotonia/diagnosis/*genetics/physiopathology, Potassium Channels/genetics/physiology, Sodium Channels/genetics/physiology, Temperature Sense/physiology, Time Factors.



7. A. Slama, C. Lacroix, V. Plante-Bordeneuve, A. Lombes, M. Conti, J. M. Reimund, E. Auxenfants, P. Crenn, P. Laforet, A. Joannard, D. Seguy, H. Pillant, P. Joly, S. Haut, B. Messing, G. Said, A. Legrand, and A. Guiochon-Mantel. Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. Mol Genet Metab, 84(4):326-31, 2005. Note: Journal ArticleUnited States. [WWW] Keyword(s): Adult, Child, DNA, Mitochondrial/genetics, Humans, Intestinal Pseudo-Obstruction/genetics, Mitochondrial Encephalomyopathies/*genetics, *Mutation, Sequence Deletion, Syndrome, Thymidine/blood/urine, Thymidine Phosphorylase/*genetics/metabolism.



8. P. F. Chinnery, S. DiMauro, S. Shanske, E. A. Schon, M. Zeviani, C. Mariotti, F. Carrara, A. Lombes, P. Laforet, H. Ogier, M. Jaksch, H. Lochmuller, R. Horvath, M. Deschauer, D. R. Thorburn, L. A. Bindoff, J. Poulton, R. W. Taylor, J. N. Matthews, and D. M. Turnbull. Risk of developing a mitochondrial DNA deletion disorder. Lancet, 364(9434):592-6, 2004. Note: Journal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adult, Child, DNA, Mitochondrial/*genetics, Female, Gene Deletion, Humans, Kearns-Sayer Syndrome/genetics, Male, Maternal Age, Mitochondrial Diseases/*genetics, *Mutation, Ophthalmoplegia, Chronic Progressive External/genetics, Pedigree, Risk Factors, Syndrome.



9. E. Fournier, M. Arzel, D. Sternberg, S. Vicart, P. Laforet, B. Eymard, J. C. Willer, N. Tabti, and B. Fontaine. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol, 56(5):650-61, 2004. Note: Clinical TrialComparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Action Potentials/physiology, Adolescent, Adult, Aged, Calcium Channels/genetics/physiology, Child, Electric Stimulation/methods, Electromyography/*methods, Exercise/physiology, Exercise Test/methods, Female, Humans, Ion Channels/classification/*genetics, Male, Middle Aged, Muscular Diseases/classification/*genetics/rehabilitation, *Mutation, Potassium Channels/genetics/physiology, Sodium Channels/genetics/physiology, Treatment Outcome.



10. S. Vicart, D. Sternberg, E. Fournier, F. Ochsner, P. Laforet, T. Kuntzer, B. Eymard, B. Hainque, and B. Fontaine. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology, 63(11):2120-7, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Acetazolamide/therapeutic use, Action Potentials, Adolescent, Adrenal Cortex Hormones/adverse effects, Adult, *Amino Acid Substitution, Child, Preschool, Codon/*genetics, DNA Mutational Analysis, Electromyography, Exercise Test, Female, Humans, Hypokalemic Periodic Paralysis/blood/drug therapy/etiology/*genetics, Infant, Male, *Mutation, Missense, Pedigree, *Point Mutation, Potassium/blood, Potassium Chloride/diagnostic use, Sodium Channels/deficiency/*genetics, Thyrotoxicosis/complications.



11. K. Aure, D. Sternberg, T. Maisonobe, S. Herson, C. Jardel, P. Blondy, A. Lombes, B. Eymard, and P. Laforet. [Myopathy-lipomatosis associated with A8344G mitochondrial DNA mutation]. Rev Neurol (Paris), 159(12):1163-8, 2003. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): *Adenine, DNA, Mitochondrial/*genetics, Female, *Guanine, Humans, Lipomatosis/*genetics, Lysine/genetics, Male, Middle Aged, Muscular Diseases/*genetics, Mutation, RNA, Transfer/genetics.



12. P. Laforet, C. Wary, S. Duteil, E. de Kerviler, P. G. Carlier, A. Lombes, N. B. Romero, M. Fardeau, B. Eymard, and A. Leroy-Willig. [Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry]. Rev Neurol (Paris), 159(1):56-67, 2003. Note: Clinical TrialEnglish AbstractJournal ArticleResearch Support, Non-U.S. Gov'tFrance. [WWW] Keyword(s): Adolescent, Adult, Aged, Exercise, Exercise Test, Exercise Tolerance/*physiology, Female, Glycogen/metabolism, Glycolysis, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal/enzymology/*pathology/physiopathology, Phosphocreatine/metabolism, Rhabdomyolysis/enzymology/*pathology/physiopathology.

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