Pascal Laforet

Summary

Country: France

Publications

  1. doi request reprint Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 19:324-9. 2009
  2. ncbi request reprint [Pompe's disease]
    P Laforet
    Centre de référence pathologie neuromusculaire Paris Est, Hopital Pitie Salpetriere, 75651 Paris, France
    Rev Med Interne 28:S290-1. 2007
  3. doi request reprint Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:693-700. 2010
  4. ncbi request reprint [Therapeutic trials and muscular diseases]
    P Laforet
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris
    Rev Neurol (Paris) 162:455-7. 2006
  5. ncbi request reprint A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis
    Pascal Laforet
    Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Neuromuscul Disord 16:178-82. 2006
  6. ncbi request reprint Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease
    P Laforet
    Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, 47 83 boulevard de l Hopital, 75113 Paris Cedex, France
    Neurology 63:1535. 2004
  7. ncbi request reprint [Exercise-intolerance and exercise-induced rhabdomyolisis: etiology and diagnosis]
    P Laforet
    Institut de Myologie, Fédération de Neurologie Mazarin, Groupe Hospitalier Pitie Salpetriere, Paris
    Rev Neurol (Paris) 160:217-23. 2004
  8. doi request reprint High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
    Karim Wahbi
    Institut de Myologie, Hopital Pitie Salpetriere, APHP, Paris, France
    Neuromuscul Disord 22:211-8. 2012
  9. doi request reprint Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
    Kristl G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Acta Neuropathol 117:293-307. 2009
  10. ncbi request reprint Cold extends electromyography distinction between ion channel mutations causing myotonia
    Emmanuel Fournier
    Fédération de Neurophysiologie Clinique, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Universite Pierre et Marie Curie, Paris
    Ann Neurol 60:356-65. 2006

Detail Information

Publications38

  1. doi request reprint Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 19:324-9. 2009
    ..Measurement of fasting blood acylcarnitines by tandem mass spectrometry allows accurate biochemical diagnosis and should therefore be performed in all patients presenting with unexplained muscle exercise intolerance or rhabdomyolysis...
  2. ncbi request reprint [Pompe's disease]
    P Laforet
    Centre de référence pathologie neuromusculaire Paris Est, Hopital Pitie Salpetriere, 75651 Paris, France
    Rev Med Interne 28:S290-1. 2007
  3. doi request reprint Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:693-700. 2010
    ..New therapeutic approaches for fatty acid oxidation disorders are currently developed, based on pharmacological treatment with bezafibrate, and specific diets enriched in medium-chain triglycerides or triheptanoin...
  4. ncbi request reprint [Therapeutic trials and muscular diseases]
    P Laforet
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris
    Rev Neurol (Paris) 162:455-7. 2006
    ..Based on experience acquired with earlier protocols, we present methodologies currently used and the difficulties encountered. We discuss the potential ways for improving therapeutic trials...
  5. ncbi request reprint A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis
    Pascal Laforet
    Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Neuromuscul Disord 16:178-82. 2006
    ..Considering those results, PRKAG2 gene could be a potential candidate for unexplained muscle glycogenosis associated with cardiac abnormalities...
  6. ncbi request reprint Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease
    P Laforet
    Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, 47 83 boulevard de l Hopital, 75113 Paris Cedex, France
    Neurology 63:1535. 2004
  7. ncbi request reprint [Exercise-intolerance and exercise-induced rhabdomyolisis: etiology and diagnosis]
    P Laforet
    Institut de Myologie, Fédération de Neurologie Mazarin, Groupe Hospitalier Pitie Salpetriere, Paris
    Rev Neurol (Paris) 160:217-23. 2004
    ..We present a description of the main metabolic myopathies manifesting by exercise intolerance with an overview of clinical and laboratory evaluation leading to diagnosis. Differential diagnosis are also discussed...
  8. doi request reprint High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
    Karim Wahbi
    Institut de Myologie, Hopital Pitie Salpetriere, APHP, Paris, France
    Neuromuscul Disord 22:211-8. 2012
    ..Our study underscores that in DES patients in-depth cardiac investigations are needed to prevent cardiac conduction system disease...
  9. doi request reprint Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
    Kristl G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Acta Neuropathol 117:293-307. 2009
    ....
  10. ncbi request reprint Cold extends electromyography distinction between ion channel mutations causing myotonia
    Emmanuel Fournier
    Fédération de Neurophysiologie Clinique, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Universite Pierre et Marie Curie, Paris
    Ann Neurol 60:356-65. 2006
    ..We designed an easy electromyography (EMG) protocol combining repeated short exercise and cold as provocative tests to discriminate groups of mutations...
  11. doi request reprint Rigid spine syndrome revealing late-onset Pompe disease
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:128-30. 2010
    ....
  12. doi request reprint Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders
    Edoardo Malfatti
    Unité de Morphologie Neuromusculaire, Institut de Myologie, groupe hospitalier universitaire La Pitié Salpêtrière, Paris, France
    J Neuropathol Exp Neurol 72:833-45. 2013
    ..Our findings expand the morphologic features of RBM, clearly demonstrate the localization of FHL1 in RBs, and further illustrate major morphologic differences among different FHL1-related myopathies. ..
  13. doi request reprint Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control study
    Karim Wahbi
    Myology Institute, Pitie Salpetriere Hospital, APHP, 47 83 boulevard de l Hopital, Paris Cedex 13, France
    Neuromuscul Disord 19:468-72. 2009
    ..Our study suggests that systematic cardiac investigations should be recommended in these patients...
  14. ncbi request reprint Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
    Dirk Fischer
    Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie IFR14, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Brain 129:1463-9. 2006
    ..The recognition of this specific imaging pattern of muscle involvement--distinct to the reported patterns in other congenital myopathies--may enable a better selection for direct genetic testing...
  15. doi request reprint Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
    Tanya Stojkovic
    AP HP, Institute of Myology, G H Pitié Salpêtrière, Paris, France
    Neuromuscul Disord 19:316-23. 2009
    ..We observed intrafamilial and interfamilial variability in terms of severity, distribution of weakness and presence or not of Paget's disease or cognitive impairment...
  16. ncbi request reprint Exercise tolerance and daily life in McArdle's disease
    Karen Ollivier
    Laboratoire de Physiologie Neuromusculaire, Institut de Myologie, GH Pitié Salpétrière, 75651 Paris, France
    Muscle Nerve 31:637-41. 2005
    ..Moreover, physical exercise appears to have positive effects on the main clinical features, such as effort intolerance. Thus, regular, moderate physical activity may be beneficial in McArdle's disease...
  17. doi request reprint Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study
    Karim Wahbi
    Myology Institute, Pitie Salpetriere Hospital, APHP, Paris, France
    Neuromuscul Disord 18:650-5. 2008
    ..Reduced contractility and cardiac magnetic resonance imaging morphological abnormalities are highly prevalent in LGMD2I patients suggesting that all patients should be referred for cardiac evaluation...
  18. doi request reprint Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study
    Pascal Laforet
    AP HP, Centre de Référence de Pathologie Neuromusculaire Paris Est, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Mol Genet Metab 108:125-31. 2013
    ..Two patients had elevated triglycerides and low cholesterol-HDL. Based on these analyses, regular control of cardiometabolic risks appear mandatory in the clinical follow-up of these subjects...
  19. doi request reprint Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
    Claire Wary
    Institute of Myology, Paris, France
    Neuromuscul Disord 20:548-58. 2010
    ..These non-invasive investigations provide new indices to quantify the progression of GSDIII...
  20. doi request reprint Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial
    Mette Cathrine Ørngreen
    From the Neuromuscular Clinic and Research Unit M C Ø, K L M, n p, G A, J V, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark and Centre de Référence de pathologie neuromusculaire Paris Est P L, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, France
    Neurology 82:607-13. 2014
    ..To assess whether bezafibrate increases fatty acid oxidation (FAO) and lowers heart rate (HR) during exercise in patients with carnitine palmitoyltransferase (CPT) II and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencies...
  21. doi request reprint Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
    Karine Aure
    From Inserm Institut Cochin U1016 K A, C J, F B, A L, Paris AP HP K A, Hopital Ambroise Pare, Service d Explorations Fonctionnelles, Boulogne Billancourt Université Versailles Saint Quentin en Yvelines K A AP HP O D, CHU Pitie Salpetriere, Service de Neuropathologie, Paris AP HP C J, D S, CHU Pitie Salpetriere, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris Inserm U1069 L C, C V, Tours Université François Rabelais L C, C V, Tours UPMC D S, E F, B F, Inserm UMR975, CNRS 7225, Institut Cerveau Moelle, Paris AP HP E F, P L, Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, GH Pitié Salpétrière, Paris AP HP E F, B F, Interregional Center Adaptogen
    Neurology 81:1810-8. 2013
    ....
  22. doi request reprint High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
    Edoardo Malfatti
    AP HP, Pitie Salpetriere Hospital, Reference Center for Muscle Diseases Paris Est, Myology Institute, Paris, France
    Neurology 80:100-5. 2013
    ..To determine the long-term incidence of cardiac life-threatening complications and death in patients with the m.3243A>G mutation, and to identify cardiac prognostic factors...
  23. doi request reprint Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
    Kristl G Claeys
    Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Paris, France
    Neuromuscul Disord 20:701-8. 2010
    ..This myopathy should be included in the differential diagnosis of patients with exercise intolerance and myalgia...
  24. doi request reprint Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
    Caroline Michot
    Paris Descartes University, INSERM U781 and Reference Center of Metabolic Diseases, Necker Hospital, Paris, France
    J Inherit Metab Dis 35:1119-28. 2012
    ....
  25. doi request reprint "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
    Jorge A Bevilacqua
    INSERM, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Acta Neuropathol 117:283-91. 2009
    ..Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. The presence of necklace fibers is useful as a marker to direct genetic analysis to MTM1 in CNM...
  26. ncbi request reprint Variable pathogenic potentials of mutations located in the desmin alpha-helical domain
    Bertrand Goudeau
    EA300, Universite Paris 7 Denis Diderot, Paris, France
    Hum Mutat 27:906-13. 2006
    ..Mutations within the highly conserved alpha-helical structures are especially damaging since the integrity of the alpha-helix is critical for desmin filament assembly and stability...
  27. pmc DNAJB2 expression in normal and diseased human and mouse skeletal muscle
    Kristl G Claeys
    Unité de Morphologie Neuromusculaire, and the Centre de Référence Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Paris, France
    Am J Pathol 176:2901-10. 2010
    ..Therefore, we propose a role for DNAJB2 in protein turnover processes in skeletal muscle...
  28. doi request reprint Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency
    Edoardo Malfatti
    Unité de Morphologie Neuromusculaire Institut de Myologie, GH Pitié Salpétrière, Paris, France
    J Neurol Sci 316:173-7. 2012
    ..Vacuolar myopathy with polyglucosan deposits remains an important morphological hallmark of this rare muscle glycogenosis...
  29. doi request reprint Blocked muscle fat oxidation during exercise in neutral lipid storage disease
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, 47 83 boulevard de l Hopital, 75651 Paris Cedex 13, France
    Arch Neurol 69:530-3. 2012
    ..To determine whether impaired exercise capacity in neutral lipid storage disease with myopathy is solely caused by muscle weakness or whether a defect in energy metabolism (blocked fat oxidation) may also play a role...
  30. ncbi request reprint Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency
    Claire Wary
    AFM CEA NMR Laboratory, Institut de Myologie, IFR14, G H Pitié Salpêtrière, 75651 Paris Cedex 13, France
    Neuromuscul Disord 13:545-53. 2003
    ..It may also offer an appropriate tool to study the role of glycogen accumulation in progression of the pathology...
  31. ncbi request reprint Electromyography guides toward subgroups of mutations in muscle channelopathies
    Emmanuel Fournier
    Department of Physiology, Groupe hospitalier Pitié Salpêtrière and Université Pierre et Marie Curie, Paris, France
    Ann Neurol 56:650-61. 2004
    ..We hypothesize that mutations are segregated into the different electromyographic patterns according to the underlying pathophysiological mechanisms...
  32. doi request reprint Left ventricular non-compaction in a patient with myotonic dystrophy type 2
    Karim Wahbi
    Department of Cardiology, Cochin Hospital, Assistance Publique Hopitaux de Paris, Rene Descartes University, 27 rue du Fg St Jacques, 75014 Paris, France
    Neuromuscul Disord 18:331-3. 2008
    ..Left ventricular non-compaction diagnosis is often overlooked. Neurological examination should be performed in all patients with left ventricular non-compaction...
  33. doi request reprint Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study
    Sophie Perie
    1 Service d Oto Rhino Laryngologie et de Chirurgie Cervico Faciale, Assistance Publique Hopitaux de Paris APHP, Hopital Tenon, Paris, France 2 Université Paris VI Pierre et Marie Curie, Paris, France 3 Thérapie des maladies du muscle strié Institut de Myologie, UM76, Inserm U974, Groupe Hospitalier Pitie Salpetriere, Paris, France 4 CNRS UMR 7215, Paris, France
    Mol Ther 22:219-25. 2014
    ..This trial supports the hypothesis that a local injection of autologous myoblasts in the pharyngeal muscles is a safe and efficient procedure for OPMD patients. ..
  34. doi request reprint POLG mutations associated with remitting/relapsing neurological events
    Bertrand Degos
    Departement de Neurologie, Hopital Pitie Salpetriere, AP HP, 47 83 boulevard de l Hopital, 75013 Paris, France Université Pierre et Marie Curie Paris VI, Paris, France Electronic address
    J Clin Neurosci 21:186-8. 2014
    ..This patient stresses the relationship between mitochondrial dysfunction and inflammation. Recent studies suggest that targeting mitochondrial dysfunction could provide benefits in treating some inflammatory diseases. ..
  35. ncbi request reprint Clinical study of chronic pain in hereditary myopathies
    Thierry Delorme
    Centre d Evaluation et de Traitement de la Douleur, Hopital Saint Antoine, 184 rue du Faubourg, 75102 Saint Antoine, Paris, France
    Eur J Pain 8:55-61. 2004
    ..3% of the patients. Pain management was essentially based on physiotherapy. Only a minority of patients (38%) has an appropriate drug treatment. Common analgesics appeared to be very effective in these patients...
  36. doi request reprint Severe neonatal myasthenia due to maternal anti-MuSK antibodies
    Anthony Behin
    Centre de Référence des maladies rares neuromusculaires Paris Est, Institut de Myologie, Service de Neurologie Mazarin, Groupe Hospitalier Pitie Salpetriere, APHP, 47 83 boulevard de l Hopital, 75651 Paris Cedex 13, France
    Neuromuscul Disord 18:443-6. 2008
    ..The possible pathophysiology of this disorder, based on recent findings on the expression and function of MuSK protein, is reviewed...
  37. doi request reprint A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C
    Serge Herson
    service de médecine interne 1, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Brain 135:483-92. 2012
    ..Expression of γ-sarcoglycan protein can be induced in patients with limb girdle muscular dystrophy type 2C by adeno-associated virus serotype 1 gene transfer, with no serious adverse effects...
  38. ncbi request reprint Mutations in dynamin 2 cause dominant centronuclear myopathy
    Marc Bitoun
    INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitie Salpetriere, UPMC, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Nat Genet 37:1207-9. 2005
    ..The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function...