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Wyszukujesz frazę ""Laforet, P."" wg kryterium: Autor


Tytuł :
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.
Autorzy :
Harlaar L; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Hogrel JY; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Perniconi B; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Kruijshaar ME; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Rizopoulos D; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Taouagh N; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Canal A; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Brusse E; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
van Doorn PA; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
van der Ploeg AT; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Laforêt P; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
van der Beek NAME; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France. .
Pokaż więcej
Źródło :
Neurology [Neurology] 2019 Nov 05; Vol. 93 (19), pp. e1756-e1767. Date of Electronic Publication: 2019 Oct 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Enzyme Replacement Therapy*
Glycogen Storage Disease Type II/*drug therapy
alpha-Glucosidases/*therapeutic use
Adult ; Cohort Studies ; Female ; Follow-Up Studies ; France ; Glycogen Storage Disease Type II/complications ; Glycogen Storage Disease Type II/physiopathology ; Humans ; Male ; Middle Aged ; Mobility Limitation ; Muscle Strength ; Muscle Weakness/etiology ; Muscle Weakness/physiopathology ; Netherlands ; Noninvasive Ventilation/statistics & numerical data ; Prospective Studies ; Randomized Controlled Trials as Topic ; Respiratory Insufficiency/etiology ; Respiratory Insufficiency/physiopathology ; Respiratory Insufficiency/therapy ; Treatment Outcome ; Vital Capacity ; Walk Test ; Wheelchairs
Czasopismo naukowe
Tytuł :
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial.
Autorzy :
Ørngreen MC; 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 Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
Madsen KL
Preisler N
Andersen G
Vissing J
Laforêt P
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Źródło :
Neurology [Neurology] 2014 Feb 18; Vol. 82 (7), pp. 607-13. Date of Electronic Publication: 2014 Jan 22.
Typ publikacji :
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Acyl-CoA Dehydrogenase, Long-Chain/*deficiency
Bezafibrate/*pharmacology
Carnitine O-Palmitoyltransferase/*deficiency
Fatty Acids/*metabolism
Hypolipidemic Agents/*pharmacology
Lipid Metabolism, Inborn Errors/*drug therapy
Lipid Metabolism, Inborn Errors/*metabolism
Mitochondrial Diseases/*drug therapy
Mitochondrial Diseases/*metabolism
Muscle, Skeletal/*metabolism
Muscular Diseases/*drug therapy
Muscular Diseases/*metabolism
Acyl-CoA Dehydrogenase, Long-Chain/blood ; Acyl-CoA Dehydrogenase, Long-Chain/metabolism ; Adolescent ; Adult ; Aged ; Bezafibrate/administration & dosage ; Bezafibrate/blood ; Clinical Protocols ; Congenital Bone Marrow Failure Syndromes ; Cross-Over Studies ; Fatty Acids/blood ; Female ; Humans ; Hypolipidemic Agents/administration & dosage ; Hypolipidemic Agents/blood ; Lipid Metabolism, Inborn Errors/blood ; Lipid Metabolism, Inborn Errors/diagnosis ; Male ; Middle Aged ; Mitochondrial Diseases/blood ; Mitochondrial Diseases/diagnosis ; Muscle, Skeletal/drug effects ; Muscular Diseases/blood ; Muscular Diseases/diagnosis ; Treatment Outcome ; Young Adult
SCR Disease Name :
Carnitine Palmitoyltransferase II Deficiency, Late-Onset; VLCAD deficiency
Czasopismo naukowe
Tytuł :
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Autorzy :
Auré K; From Inserm Institut Cochin U1016 (K.A., C.J., F.B., A.L.), Paris; AP/HP (K.A.), Hôpital Ambroise Paré, Service d'explorations fonctionnelles, Boulogne-Billancourt; Université Versailles-Saint-Quentin en Yvelines (K.A.); AP-HP (O.D.), CHU Pitié-Salpêtrière, Service de Neuropathologie, Paris; AP-HP (C.J., D.S.), CHU Pitié-Salpêtrière, 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-Salpêtrière, Paris; AP-HP (E.F., B.F.), Centre de Référence des Canalopathies Musculaires, Hôpital Pitié-Salpêtrière, Paris; Hospices Civils de Lyon (N.S.), Centre de Pathologie Est, Bron; Université Claude Bernard Lyon1-CNRS UMR5292-INSERM U1028 (N.S.); Centre de référence Maladies Neuromusculaires Rares (P.P., H.G.-B., C.V.), Rhône-Alpes; Hospices Civils de Lyon (P.P.), Hôpital de la Croix-Rousse, explorations fonctionnelles neurologiques, Lyon; Hospices Civils de Lyon (H.G.-B., C.V.), Hôpital Pierre Wertheimer, service d'électromyographie et pathologies neuromusculaires, Bron; CHU de Rouen (A.-L.B.-M.), Service de neurologie, Rouen; CHU de Rouen (V.D.-G.), Service de génétique, Rouen; CNRS UMR 8104 (F.B., A.L.), Paris; and Université Paris-Descartes-Paris 5 (F.B., A.L.), Paris, France.
Dubourg O
Jardel C
Clarysse L
Sternberg D
Fournier E
Laforêt P
Streichenberger N
Petiot P
Gervais-Bernard H
Vial C
Bedat-Millet AL
Drouin-Garraud V
Bouillaud F
Vandier C
Fontaine B
Lombès A
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Źródło :
Neurology [Neurology] 2013 Nov 19; Vol. 81 (21), pp. 1810-8. Date of Electronic Publication: 2013 Oct 23.
Typ publikacji :
Journal Article
MeSH Terms :
DNA, Mitochondrial/*genetics
MELAS Syndrome/*genetics
Mitochondrial Proton-Translocating ATPases/*genetics
Paralyses, Familial Periodic/*genetics
Acetazolamide/therapeutic use ; Adult ; Anticonvulsants/therapeutic use ; Cells, Cultured/metabolism ; Female ; Fibroblasts/metabolism ; Humans ; MELAS Syndrome/complications ; Male ; Paralyses, Familial Periodic/drug therapy ; Paralyses, Familial Periodic/etiology ; Pedigree ; Phenotype ; Sequence Deletion/genetics
Czasopismo naukowe
Tytuł :
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.
Autorzy :
Malfatti E; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Laforêt P
Jardel C
Stojkovic T
Behin A
Eymard B
Lombès A
Benmalek A
Bécane HM
Berber N
Meune C
Duboc D
Wahbi K
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Źródło :
Neurology [Neurology] 2013 Jan 01; Vol. 80 (1), pp. 100-5. Date of Electronic Publication: 2012 Dec 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heart Diseases/*diagnosis
Heart Diseases/*genetics
Heart Diseases/*mortality
MELAS Syndrome/*diagnosis
MELAS Syndrome/*genetics
MELAS Syndrome/*mortality
RNA, Transfer, Leu/*genetics
Adult ; Female ; Genetic Predisposition to Disease ; Heart Diseases/complications ; Humans ; MELAS Syndrome/complications ; Male ; Middle Aged ; Mitochondria/genetics ; Polymorphism, Single Nucleotide/genetics ; Prognosis
Czasopismo naukowe
Tytuł :
Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.
Autorzy :
Béhin A; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, Paris.
Jardel C
Claeys KG
Fagart J
Louha M
Romero NB
Laforêt P
Eymard B
Lombès A
Pokaż więcej
Źródło :
Neurology [Neurology] 2012 Feb 28; Vol. 78 (9), pp. 644-8. Date of Electronic Publication: 2012 Feb 15.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA, Mitochondrial/*genetics
Mitochondrial Myopathies/*genetics
Muscle, Skeletal/*pathology
Thymidine Kinase/*genetics
Adult ; Female ; Humans ; Male ; Mitochondrial Myopathies/pathology ; Muscle Weakness/genetics ; Muscle Weakness/pathology
Czasopismo naukowe
Tytuł :
Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat?
Autorzy :
Laloui K; Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Wary C
Carlier RY
Hogrel JY
Caillaud C
Laforêt P
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Źródło :
Neurology [Neurology] 2011 Aug 09; Vol. 77 (6), pp. 594-5. Date of Electronic Publication: 2011 Jul 13.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Enzyme Replacement Therapy*
Glycogen Storage Disease Type II/*diagnosis
Glycogen Storage Disease Type II/*therapy
alpha-Glucosidases/*therapeutic use
Aging/pathology ; Biopsy ; Disease Progression ; Early Diagnosis ; Glycogen/metabolism ; Humans ; Infant ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Male ; Muscle Strength/physiology ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Young Adult
Czasopismo naukowe
Tytuł :
Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA.
Autorzy :
Wahbi K; Myology Institute, Pitié-Salpêtrière Hospital 47-83, boulevard de l'Hôpital, 75651 Paris Cedex 13, France. />Larue S
Jardel C
Meune C
Stojkovic T
Ziegler F
Lombès A
Eymard B
Duboc D
Laforêt P
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Źródło :
Neurology [Neurology] 2010 Feb 23; Vol. 74 (8), pp. 674-7.
Typ publikacji :
Journal Article
MeSH Terms :
Arrhythmias, Cardiac/*genetics
DNA, Mitochondrial/*genetics
Heart Failure/*genetics
MERRF Syndrome/*genetics
Ventricular Dysfunction, Left/*genetics
Adult ; Arrhythmias, Cardiac/complications ; Arrhythmias, Cardiac/diagnosis ; Echocardiography ; Electrocardiography ; Female ; Heart Failure/complications ; Heart Failure/diagnosis ; Humans ; MERRF Syndrome/complications ; Male ; Middle Aged ; Mutation ; Neurologic Examination ; Retrospective Studies ; Ventricular Dysfunction, Left/complications ; Ventricular Dysfunction, Left/diagnosis
Czasopismo naukowe
Tytuł :
Dehydroepiandrosterone for myotonic dystrophy type 1.
Autorzy :
Pénisson-Besnier I; Centre de référence Maladies Neuromusculaires Nantes-Angers, Département de Neurologie, Centre Hospitalier Universitaire d'Angers, France.
Devillers M
Porcher R
Orlikowski D
Doppler V
Desnuelle C
Ferrer X
Bes MC
Bouhour F
Tranchant C
Lagrange E
Vershueren A
Uzenot D
Cintas P
Solé G
Hogrel JY
Laforêt P
Vial C
Vila AL
Sacconi S
Pouget J
Eymard B
Chevret S
Annane D
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Źródło :
Neurology [Neurology] 2008 Aug 05; Vol. 71 (6), pp. 407-12.
Typ publikacji :
Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Dehydroepiandrosterone/*therapeutic use
Myotonic Dystrophy/*drug therapy
Adult ; Dehydroepiandrosterone/adverse effects ; Double-Blind Method ; Endpoint Determination ; Female ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/drug effects ; Muscle, Skeletal/physiopathology ; Myotonic Dystrophy/physiopathology ; Myotonic Dystrophy/psychology ; Prospective Studies ; Quality of Life
Czasopismo naukowe
Tytuł :
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.
Autorzy :
Laforêt P; Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris Cedex 13, France. pascal.laforet@psl.aphp.fr
Petiot P
Nicolino M
Orlikowski D
Caillaud C
Pellegrini N
Froissart R
Petitjean T
Maire I
Chabriat H
Hadrane L
Annane D
Eymard B
Pokaż więcej
Źródło :
Neurology [Neurology] 2008 May 27; Vol. 70 (22), pp. 2063-6.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Glycogen Storage Disease Type II/*complications
Glycogen Storage Disease Type II/*diagnostic imaging
Vertebrobasilar Insufficiency/*complications
Vertebrobasilar Insufficiency/*diagnostic imaging
Adult ; Age of Onset ; Basilar Artery/diagnostic imaging ; Dilatation, Pathologic/complications ; Dilatation, Pathologic/diagnostic imaging ; Female ; Humans ; Male ; Middle Aged ; Radiography
Czasopismo naukowe

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