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Auteur Laforêt P |
Documents disponibles écrits par cet auteur



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Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study
Querin G, Lenglet T, Debs R, et al.
Journal of neurology, 2021
Revue : Journal of neurology Titre : Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study Type de document : Article Auteurs : Querin G ; Lenglet T ; Debs R ; Stojkovic T ; Behin A ; Salachas F ; Le Forestier N ; Amador MDM ; Bruneteau G ; Laforêt P ; Blancho S ; Marchand-Pauvert V ; Bede P ; Hogrel JY ; Pradat PF Editeur : Germany Année de publication : 02/01/2021 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33388927 / DOI : 10.1007/s00415-020-10332-5
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33388927 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects
Berling É, Laforêt P, Wahbi K, et al.
Journal of inherited metabolic disease, 2020
Revue : Journal of inherited metabolic disease Titre : Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects Type de document : Article Auteurs : Berling É ; Laforêt P ; Wahbi K ; Labrune P ; Petit F ; Ronzitti G ; O'Brien A Editeur : United States Année de publication : 24/12/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33368379 / DOI : 10.1002/jimd.12355
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33368379 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco RS, Lucia A, Santalla A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 330
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) Type de document : Article Auteurs : Scalco RS ; Lucia A ; Santalla A ; Martinuzzi A ; Vavla M ; Reni G ; Toscano A ; Musumeci O ; Voermans NC ; Kouwenberg CV ; Laforêt P ; San-Millán B ; Viéitez I ; Siciliano G ; Kühnle E ; Trost R ; Sacconi S ; Stemmerik MG ; Durmus H ; Kierdaszuk B ; Wakelin A ; Andreu AL ; Pinos T ; Marti R ; Quinlivan R ; Vissing J Année de publication : 24/11/2020 Pages : p 330 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33234167 / DOI : 10.1186/s13023-020-01562-x
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33234167 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinos T, Andreu AL, Bruno C, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 187
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Type de document : Article Auteurs : Pinos T ; Andreu AL ; Bruno C ; Hadjigeorgiou GM ; Haller RG ; Laforêt P ; Lucia A ; Martin MA ; Martinuzzi A ; Navarro C ; Oflazer P ; Pouget J ; Quinlivan R ; Sacconi S ; Scalco RS ; Toscano A ; Vissing J ; Vorgerd M ; Wakelin A ; Marti R Année de publication : 15/10/2020 Pages : p 187 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33054807 / DOI : 10.1186/s13023-020-01455-z
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33054807 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Guimaraes-Costa R, Fernandez-Eulate G, Wahbi K, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies Type de document : Article Auteurs : Guimaraes-Costa R ; Fernandez-Eulate G ; Wahbi K ; Leturcq F ; Malfatti E ; Behin A ; Leonard-Louis S ; Desguerre I ; Barnerias C ; Nougues MC ; Isapof A ; Estournet-Mathiaud B ; Quijano-Roy S ; Fayssoil A ; Orlikowski D ; Fauroux B ; Richard I ; Semplicini C ; Romero NB ; Querin G ; Eymard B ; Laforêt P ; Stojkovic T Editeur : England Année de publication : 14/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33051934 / DOI : 10.1111/ene.14592
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33051934 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
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A new glycogen storage disease caused by a dominant PYGM mutation
Echaniz-Laguna A, Lornage X, Laforêt P, et al.
Annals of neurology, 2020
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Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Lefeuvre C, Schaeffer S, Carlier RY, et al.
Molecular genetics and metabolism reports, 2020, 24
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Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort
Piraud M, Pettazzoni M, De Antonio M, et al.
Molecular genetics and metabolism reports, 2020, 23
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Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
Vázquez J, Lefeuvre C, Escobar RE, et al.
Journal of Neuromuscular Diseases, 2020, 7, 4, p 443
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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network
Solé G, Salort-Campana E, Pereon Y, et al.
Revue neurologique, 2020, 176, 6, p 507
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A high prevalence of arterial hypertension in patients with mitochondrial diseases
Chong-Nguyen C, Stalens C, Goursot Y, et al.
Journal of inherited metabolic disease, 2019
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Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
Harlaar L, Hogrel JY, Perniconi B, et al.
Neurology, 2019, 93, 19
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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
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No effect of triheptanoin on exercise performance in McArdle disease
Madsen KL, Laforêt P, Buch AE, et al.
Annals of clinical and translational neurology, 2019
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 2019
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X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
Brisset M, Ben Yaou R, Carlier RY, et al.
Neuromuscular disorders : NMD, 2019, 29, 9, p 678
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Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Voermans NC, van der Bilt RC, IJspeert J, et al.
Journal of neurology, 2019
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Progress and challenges of gene therapy for Pompe disease
Ronzitti G, Collaud F, Laforêt P, et al.
Annals of translational medicine, 2019, 7, 13, p 287
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
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Congenital myopathies are mainly associated with a mild cardiac phenotype
Petri H, Wahbi K, Witting N, et al.
Journal of neurology, 2019, 266, 6, p 1367
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FSHD1 and FSHD2 form a disease continuum
Sacconi S, Briand-Suleau A, Gros M, et al.
Neurology, 2019, 92, 19
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez A, Alonso-Jimenez A, Kroon RHMJM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019, 90, 5, p 576
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Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders
Fayssoil A, Nguyen LS, Ogna A, et al.
PLoS ONE, 2019, 14, 4
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Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III
Tobaly D, Laforêt P, Perry A, et al.
Muscle & Nerve, 2019
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