P Laforêt

Affiliations
  • Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Service de Neurologie, Hôpital Raymond-Poincaré, Garches, AP-HP/ INSERM U1179, END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.

Publications (60)

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Orphanet journal of rare diseases
Avec: Renata S Scalco , Alejandro Lucia , Alfredo Santalla , Andrea Martinuzzi , Marinela Vavla , Gianluigi Reni , Antonio Toscano , Olimpia Musumeci , Nicol C Voermans , Carlyn V Kouwenberg , Pascal Laforêt , Beatriz San-Millán , Irene Vieitez , Gabriele Siciliano , Enrico Kühnle , Rebeca Trost , Sabrina Sacconi , Mads G Stemmerik , Hacer Durmus , Biruta Kierdaszuk , Andrew Wakelin , Antoni L Andreu , Tomàs Pinós , Ramon Marti , Ros Quinlivan , John Vissing , Auteur inconnu

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.

Neuromuscular disorders : NMD
Avec: Marion Brisset , Corinne Metay , Robert-Yves Carlier , Carmen Badosa , Caterina Marques , Joost Schalkwijk , Ivonne vanVlijmen-Willems , Cecilia Jimenez-Mallebrera , Boris Keren , Valérie Jobic , Pascal Laforêt , Edoardo Malfatti

No effect of triheptanoin on exercise performance in McArdle disease.

Annals of clinical and translational neurology
Avec: Karen L Madsen , Pascal Laforêt , Astrid E Buch , Mads G Stemmerik , Chris Ottolenghi , Stéphane N Hatem , Daniel T Raaschou-Pedersen , Nanna S Poulsen , Maria Atencio , Marie-Pierre Luton , Alexandre Ceccaldi , Ronald G Haller , Ros Quinlivan , Fanny Mochel , John Vissing

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.

Orphanet journal of rare diseases
Avec: Lucie Isoline Pisella , Sara Fernandes , Guilhem Solé , Tanya Stojkovic , Céline Tard , Jean-Baptiste Chanson , Françoise Bouhour , Emmanuelle Salort-Campana , Guillemette Beaudonnet , Louise Debergé , Fanny Duval , Aude-Marie Grapperon , Marion Masingue , Aleksandra Nadaj-Pakleza , Yann Péréon , Frédérique Audic , Anthony Behin , Diane Friedman , Armelle Magot , Jean-Baptiste Noury , Sarah Souvannanorath , Karim Wahbi , Jean-Christophe Antoine , Kévin Bigaut , Jean-Philippe Camdessanché , Pascal Cintas , Rabab Debs , Caroline Espil-Taris , Laurent Kremer , Thierry Kuntzer , Pascal Laforêt , Vincent Laugel , Martial Mallaret , Maud Michaud , Sylvain Nollet , Juliette Svahn , Savine Vicart , Rocio Nur Villar-Quiles , Isabelle Desguerre , David Adams , Sandrine Segovia-Kueny , Géraldine Merret , Elhadi Hammouda , Annamaria Molon , Shahram Attarian

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Neurology. Genetics
Avec: Sebastian Montealegre , Elise Lebigot , Hugo Debruge , Norma Romero , Bénédicte Héron , Pauline Gaignard , Antoine Legendre , Apolline Imbard , Stéphanie Gobin , Emmanuelle Lacène , Patrick Nusbaum , Arnaud Hubas , Isabelle Desguerre , Aude Servais , Pascal Laforêt , Peter van Endert , François Jérome Authier , Cyril Gitiaux , Pascale de Lonlay

Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.

Molecular genetics and metabolism
Avec: Lola E R Lessard , Céline Tard , Emmanuelle Salort-Campana , Sabrina Sacconi , Anthony Béhin , Guillaume Bassez , David Orlikowski , Philippe Merle , Sylvain Nollet , Laure Gallay , Frédéric Bérard , Philip Robinson , Françoise Bouhour , Pascal Laforêt

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.

Journal of inherited metabolic disease
Avec: Constantinos Papadopoulos , Karim Wahbi , Anthony Behin , Wulfran Bougouin , Tanya Stojkovic , Sarah Leonard-Louis , Nawal Berber , Anne Lombès , Denis Duboc , Claude Jardel , Bruno Eymard , Pascal Laforêt

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Neuromuscular disorders : NMD
Avec: J Svahn , P Laforêt , C Vial , N Streichenberger , N Romero , C Bouchet-Séraphin , A Bruneel , T Dupré , N Seta , R Menassa , L Michel-Calemard , T Stojkovic

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Circulation
Avec: Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios , Neal K Lakdawala , Caroline Stalens , Frédéric Sacher , Dominique Babuty , Jean-Noel Trochu , Ghassan Moubarak , Kostantinos Savvatis , Raphaël Porcher , Pascal Laforêt , Abdallah Fayssoil , Eloi Marijon , Tanya Stojkovic , Anthony Béhin , Sarah Leonard-Louis , Guilhem Sole , Fabien Labombarda , Pascale Richard , Corinne Metay , Susana Quijano-Roy , Ivana Dabaj , Didier Klug , Marie-Christine Vantyghem , Philippe Chevalier , Pierre Ambrosi , Emmanuelle Salort , Nicolas Sadoul , Xavier Waintraub , Khadija Chikhaoui , Philippe Mabo , Nicolas Combes , Philippe Maury , Jean-Marc Sellal , Usha B Tedrow , Jonathan M Kalman , Jitendra Vohra , Alexander F A Androulakis , Katja Zeppenfeld , Tina Thompson , Christine Barnerias , Henri-Marc Bécane , Eric Bieth , Franck Boccara , Damien Bonnet , Françoise Bouhour , Stéphane Boulé , Anne-Claire Brehin , Françoise Chapon , Pascal Cintas , Jean-Marie Cuisset , Jean-Marc Davy , Annachiara De Sandre-Giovannoli , Florence Demurger , Isabelle Desguerre , Klaus Dieterich , Julien Durigneux , Andoni Echaniz-Laguna , Romain Eschalier , Ana Ferreiro , Xavier Ferrer , Christine Francannet , Mélanie Fradin , Bénédicte Gaborit , Arnaud Gay , Albert Hagège , Arnaud Isapof , Isabelle Jeru , Raul Juntas Morales , Emmanuelle Lagrue , Nicolas Lamblin , Olivier Lascols , Vincent Laugel , Arnaud Lazarus , France Leturcq , Nicolas Levy , Armelle Magot , Véronique Manel , Raphaël Martins , Michèle Mayer , Sandra Mercier , Christophe Meune , Maud Michaud , Marie-Christine Minot-Myhié , Antoine Muchir , Aleksandra Nadaj-Pakleza , Yann Péréon , Philippe Petiot , Florence Petit , Julien Praline , Anne Rollin , Pascal Sabouraud , Catherine Sarret , Stéphane Schaeffer , Frederic Taithe , Céline Tard , Vincent Tiffreau , Annick Toutain , Camille Vatier , Ulrike Walther-Louvier , Bruno Eymard , Philippe Charron , Corinne Vigouroux , Gisèle Bonne , Saurabh Kumar , Perry Elliott , Denis Duboc

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.

Annals of neurology
Avec: Andoni Echaniz-Laguna , Xavière Lornage , Pascal Laforêt , Mette C Orngreen , Evelina Edelweiss , Guy Brochier , Mai T Bui , Roberto Silva-Rojas , Catherine Birck , Béatrice Lannes , Norma B Romero , John Vissing , Jocelyn Laporte , Johann Böhm

Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.

Revue neurologique
Avec: Y Nadjar , S Souvannanorath , T Maisonobe , M Brisset , P De Lonlay , M Schiff , K Viala , A Boutron , G Nicolas , P Laforêt

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.

Molecular genetics and metabolism reports
Avec: Claire Lefeuvre , Stéphane Schaeffer , Robert-Yves Carlier , Maxime Fournier , Françoise Chapon , Valérie Biancalana , Guillaume Nicolas , Edoardo Malfatti , Pascal Laforêt

[Sarcoglycanopathies: state of the art and therapeutic perspectives].

Medecine sciences : M/S
Avec: Gorka Fernández-Eulate , France Leturcq , Pascal Laforêt , Isabelle Richard , Tanya Stojkovic

Bariatric surgery related proximal myopathy: A partially reversible complication.

Revue neurologique
Avec: M Brisset , M C Durand , A Iosif , M Hanachi , C Palazzo , R-Y Carlier , P Laforêt , G Nicolas

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic.

European journal of neurology
Avec: Céline Tard , Emmanuelle Salort-Campana , Maud Michaud , Marco Spinazzi , Aleksandra Nadaj Pakleza , Hélène Durr , Françoise Bouhour , Claire Lefeuvre , Romain Thomas , Azzeddine Arrassi , Nadjib Taouagh , Auteur inconnu , Guilhem Solé , Pascal Laforêt

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.

Neurology
Avec: Mazen M Dimachkie , Richard J Barohn , Barry Byrne , Ozlem Goker-Alpan , Priya S Kishnani , Shafeeq Ladha , Pascal Laforêt , Karl Eugen Mengel , Loren D M Peña , Sabrina Sacconi , Volker Straub , Jaya Trivedi , Philip Van Damme , Ans T van der Ploeg , John Vissing , Peter Young , Kristina An Haack , Meredith Foster , Jane M Gilbert , Patrick Miossec , Olivier Vitse , Tianyue Zhou , Benedikt Schoser , Auteur inconnu

Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy.

European journal of neurology
Avec: Diana Maria Chitimus , Edouard Berling , Laurent Garderet , Nadia Venturelli , Edoardo Malfatti , François Jérôme Authier , Guillaume Nicolas , Pascal Laforêt , Claire Lefeuvre

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

International journal of molecular sciences
Avec: Maude Vecten , Emmanuelle Pion , Marc Bartoli , Raul Juntas Morales , Damien Sternberg , John Rendu , Tanya Stojkovic , Cécile Acquaviva Bourdain , Corinne Métay , Isabelle Richard , Mathieu Cerino , Mathieu Milh , Emmanuelle Campana-Salort , Svetlana Gorokhova , Nicolas Levy , Xénia Latypova , Gisèle Bonne , Valérie Biancalana , François Petit , Annamaria Molon , Aurélien Perrin , Pascal Laforêt , Shahram Attarian , Martin Krahn , Mireille Cossée

Cardiac Outcomes in Adults With Mitochondrial Diseases.

Journal of the American College of Cardiology
Avec: Konstantinos Savvatis , Christoffer Rasmus Vissing , Lori Klouvi , Anca Florian , Mehjabin Rahman , Anthony Béhin , Abdallah Fayssoil , Marion Masingue , Tanya Stojkovic , Henri Marc Bécane , Nawal Berber , Fanny Mochel , Denis Duboc , Bertrand Fontaine , Bjørg Krett , Caroline Stalens , Julie Lejeune , Robert D S Pitceathly , Luis Lopes , Malika Saadi , Thomas Gossios , Vincent Procaccio , Marco Spinazzi , Céline Tard , Pascal De Groote , Claire-Marie Dhaenens , Claire Douillard , Andoni Echaniz-Laguna , Ros Quinlivan , Michael G Hanna , Ali Yilmaz , John Vissing , Pascal Laforêt , Perry Elliott , Karim Wahbi

Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.

Journal of inherited metabolic disease
Avec: Claudio Semplicini , Marie De Antonio , Nadjib Taouagh , Anthony Béhin , Françoise Bouhour , Andoni Echaniz-Laguna , Armelle Magot , Aleksandra Nadaj-Pakleza , David Orlikowski , Sabrina Sacconi , Emmanuelle Salort-Campana , Guilhem Solé , Céline Tard , Fabien Zagnoli , Jean-Yves Hogrel , Dalil Hamroun , Pascal Laforêt , Auteur inconnu

Ganglionopathies Associated with MERRF Syndrome: An Original Report.

Journal of neuromuscular diseases
Avec: Maud Michaud , Tanya Stojkovic , Thierry Maisonobe , Anthony Behin , Benoit Rucheton , Sarah Léonard-Louis , Bruno Eymard , Pascal Laforêt

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Neurology
Avec: Laurike Harlaar , Jean-Yves Hogrel , Barbara Perniconi , Michelle E Kruijshaar , Dimitris Rizopoulos , Nadjib Taouagh , Aurélie Canal , Esther Brusse , Pieter A van Doorn , Ans T van der Ploeg , Pascal Laforêt , Nadine A M E van der Beek

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Neuromuscular disorders : NMD
Avec: Marion Brisset , Rabah Ben Yaou , Robert-Yves Carlier , Anaїs Chanut , Guillaume Nicolas , Norma B Romero , Karim Wahbi , Camille Decrocq , France Leturcq , Pascal Laforêt , Edoardo Malfatti

Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study.

Journal of neurology
Avec: Giorgia Querin , Timothée Lenglet , Rabab Debs , Tanya Stojkovic , Anthony Behin , François Salachas , Nadine Le Forestier , Maria Del Mar Amador , Gaëlle Bruneteau , Pascal Laforêt , Sophie Blancho , Véronique Marchand-Pauvert , Peter Bede , Jean-Yves Hogrel , Pierre-François Pradat

Deep phenotyping of an international series of patients with late-onset dysferlinopathy.

European journal of neurology
Avec: Gorka Fernández-Eulate , Giorgia Querin , Ursula Moore , Anthony Behin , Marion Masingue , Guillaume Bassez , Sarah Leonard-Louis , Pascal Laforêt , Thierry Maisonobe , Philippe-Edouard Merle , Marco Spinazzi , Guilhem Solé , Thierry Kuntzer , Anne-Laure Bedat-Millet , Emmanuelle Salort-Campana , Shahram Attarian , Yann Péréon , Leonard Feasson , Julie Graveleau , Aleksandra Nadaj-Pakleza , France Leturcq , Svetlana Gorokhova , Martin Krahn , Bruno Eymard , Volker Straub , Auteur inconnu , Teresinha Evangelista , Tanya Stojkovic

Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.

Journal of neuromuscular diseases
Avec: Caroline Stalens , Leslie Motté , Anthony Béhin , Rabah Ben Yaou , France Leturcq , Guillaume Bassez , Pascal Laforêt , Bertrand Fontaine , Stéphane Ederhy , Marion Masingue , Malika Saadi , Sarah Leonard Louis , Nawal Berber , Tanya Stojkovic , Denis Duboc , Karim Wahbi

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.

European journal of neurology
Avec: R Guimarães-Costa , G Fernández-Eulate , K Wahbi , F Leturcq , E Malfatti , A Behin , S Leonard-Louis , I Desguerre , C Barnerias , M C Nougues , A Isapof , B Estournet-Mathiaud , S Quijano-Roy , A Fayssoil , D Orlikowski , B Fauroux , I Richard , C Semplicini , N B Romero , G Querin , B Eymard , P Laforêt , T Stojkovic

Whole-body muscle MRI in McArdle disease.

Neuromuscular disorders : NMD
Avec: David Tobaly , Pascal Laforêt , Tanya Stojkovic , Anthony Behin , Francois Michael Petit , Andrea Barp , Luca Bello , Pierre Carlier , Robert-Yves Carlier

Macroglossia: A potentially severe complication of late-onset Pompe disease.

European journal of neurology
Avec: Charlotte Dupé , Claire Lefeuvre , Guilhem Solé , Anthony Behin , Corinne Pottier , Fanny Duval , Robert-Yves Carlier , Hélène Prigent , Jean Lacau St Guily , Azzeddine Arrassi , Nadjib Taouagh , Dalil Hamroun , Guillaume Nicolas , Pascal Laforêt

Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study.

PloS one
Avec: Elise Dupitier , Manon Voisin , Caroline Stalens , Pascal Laforêt , Samuel Pouplin

Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

European journal of neurology
Avec: Alice Rouyer , Céline Tard , Anne-Frédérique Dessein , Marco Spinazzi , Anne-Laure Bédat-Millet , Dalia Dimitri-Boulos , Aleksandra Nadaj-Pakleza , Jean-Baptiste Chanson , Guillaume Nicolas , Claire Douillard , Pascal Laforêt

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).

Journal of neurology
Avec: Benedikt Schoser , Priya S Kishnani , Drago Bratkovic , Barry J Byrne , Kristl G Claeys , Jordi Díaz-Manera , Pascal Laforêt , Mark Roberts , Antonio Toscano , Ans T van der Ploeg , Jeff Castelli , Mitchell Goldman , Fred Holdbrook , Sheela Sitaraman Das , Yasmine Wasfi , Tahseen Mozaffar , Auteur inconnu

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.

JIMD reports
Avec: Karen L Madsen , Nicolai Preisler , Astrid E Buch , Mads G Stemmerik , Pascal Laforêt , John Vissing

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Journal of inherited metabolic disease
Avec: Andoni Echaniz-Laguna , Yann Nadjar , Anthony Béhin , Valérie Biancalana , Monique Piraud , Edoardo Malfatti , Pascal Laforêt

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Neuromuscular disorders : NMD
Avec: Loren D M Pena , Richard J Barohn , Barry J Byrne , Claude Desnuelle , Ozlem Goker-Alpan , Shafeeq Ladha , Pascal Laforêt , Karl Eugen Mengel , Alan Pestronk , Jean Pouget , Benedikt Schoser , Volker Straub , Jaya Trivedi , Philip Van Damme , John Vissing , Peter Young , Katherine Kacena , Raheel Shafi , Beth L Thurberg , Kerry Culm-Merdek , Ans T van der Ploeg , Auteur inconnu

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Revue neurologique
Avec: M Brisset , A Béhin , C Pottier , C Jardel , T Sharshar , F Mochel , F Mallard , A Slama , A Lombès , B Eymard , P Laforêt

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study.

NeuroImage. Clinical
Avec: Giorgia Querin , Mohamed-Mounir El Mendili , Timothée Lenglet , Anthony Behin , Tanya Stojkovic , François Salachas , David Devos , Nadine Le Forestier , Maria Del Mar Amador , Rabab Debs , Lucette Lacomblez , Vincent Meininger , Gaëlle Bruneteau , Julien Cohen-Adad , Stéphane Lehéricy , Pascal Laforêt , Sophie Blancho , Habib Benali , Martin Catala , Menghan Li , Véronique Marchand-Pauvert , Jean-Yves Hogrel , Peter Bede , Pierre-François Pradat

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.

Journal of inherited metabolic disease
Avec: Édouard Berling , Pascal Laforêt , Karim Wahbi , Philippe Labrune , François Petit , Giuseppe Ronzitti , Alan O'Brien

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Orphanet journal of rare diseases
Avec: Tomàs Pinós , Antoni L Andreu , Claudio Bruno , Georgios M Hadjigeorgiou , Ronald G Haller , Pascal Laforêt , Alejandro Lucía , Miguel A Martín , Andrea Martinuzzi , Carmen Navarro , Piraye Oflazer , Jean Pouget , Ros Quinlivan , Sabrina Sacconi , Renata S Scalco , Antonio Toscano , John Vissing , Matthias Vorgerd , Andrew Wakelin , Ramon Martí , Auteur inconnu

No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.

Journal of inherited metabolic disease
Avec: Jesper H Storgaard , Nicoline Løkken , Karen L Madsen , Nicol C Voermans , Pascal Laforêt , Aleksandra Nadaj-Pakleza , Céline Tard , Gerrit van Hall , John Vissing , Mette C Ørngreen

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.

Orphanet journal of rare diseases
Avec: Emmanuelle Salort-Campana , Guilhem Solé , Armelle Magot , Céline Tard , Jean-Baptiste Noury , Anthony Behin , Elisa De La Cruz , François Boyer , Claire Lefeuvre , Marion Masingue , Louise Debergé , Armelle Finet , Mélanie Brison , Marco Spinazzi , Antoine Pegat , Sabrina Sacconi , Edoardo Malfatti , Ariane Choumert , Rémi Bellance , Anne-Laure Bedat-Millet , Léonard Feasson , Carole Vuillerot , Agnès Jacquin-Piques , Maud Michaud , Yann Pereon , Tanya Stojkovic , Pascal Laforêt , Shahram Attarian , Pascal Cintas

Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study.

Neuromuscular disorders : NMD
Avec: Théo Maulet , Céline Bonnyaud , Pascal Laforêt , Thomas Cattagni

Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.

Neurology
Avec: Théo Maulet , Celine Bonnyaud , Catherine Weill , Pascal Laforêt , Thomas Cattagni

Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.

Neurology
Avec: Claire Lefeuvre , Marie De Antonio , Francoise Bouhour , Celine Tard , Emmanuelle Salort-Campana , Emmeline Lagrange , Anthony Behin , Guilhem Sole , Jean-Baptiste Noury , Sabrina Sacconi , Armelle Magot , Aleksandra Nadaj-Pakleza , Arnaud Lacour , Stephane Beltran , Marco Spinazzi , Pascal Cintas , Dimitri Renard , Maud Michaud , Anne-Laure Bedat-Millet , Helene Prigent , Nadjib Taouagh , Azzeddine Arrassi , Dalil Hamroun , Shahram Attarian , Pascal Laforêt , Auteur inconnu

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

Orphanet journal of rare diseases
Avec: Walaa Karazi , Renata S Scalco , Mads G Stemmerik , Nicoline Løkken , Alejandro Lucia , Alfredo Santalla , Andrea Martinuzzi , Marinela Vavla , Gianluigi Reni , Antonio Toscano , Olimpia Musumeci , Carlyn V Kouwenberg , Pascal Laforêt , Beatriz San Millán , Irene Vieitez , Gabriele Siciliano , Enrico Kühnle , Rebecca Trost , Sabrina Sacconi , Hacer Durmus , Biruta Kierdaszuk , Andrew Wakelin , Antoni L Andreu , Tomàs Pinós , Ramon Marti , Ros Quinlivan , John Vissing , Nicol C Voermans , Auteur inconnu

User opinions about connected pressure detection systems to prevent wheelchair-related pressure injuries: an exploratory cross-sectional survey.

Assistive technology : the official journal of RESNA
Avec: Elise A Dupitier , Antoine P Perrier , Pascal Laforêt , Samuel D Pouplin

Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

European journal of neurology
Avec: Emilie Retailleau , Claire Lefeuvre , Marie De Antonio , Françoise Bouhour , Celine Tard , Emmanuelle Salort-Campana , Emmeline Lagrange , Anthony Béhin , Guilhem Solé , Jean-Baptiste Noury , Sabrina Sacconi , Armelle Magot , Aleksandra Nadaj Pakleza , David Orlikowski , Stéphane Beltran , Marco Spinazzi , Pascal Cintas , Maxime Fournier , Fatma Bouibede , Hélène Prigent , Guillaume Nicolas , Nadjib Taouagh , Taissir El Guizani , Shahram Attarian , Azzeddine Arrassi , Dalil Hamroun , Pascal Laforêt

A high prevalence of arterial hypertension in patients with mitochondrial diseases.

Journal of inherited metabolic disease
Avec: Caroline Chong-Nguyen , Caroline Stalens , Yves Goursot , Wulfran Bougouin , Tanya Stojkovic , Anthony Béhin , Fanny Mochel , Nawal Berber , Bruno Eymard , Denis Duboc , Pascal Laforêt , Karim Wahbi

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Muscle & nerve
Avec: David Tobaly , Pascal Laforêt , Ariane Perry , Dalila Habes , Philippe Labrune , Valerie Decostre , Marion Masingue , Francois Petit , Andrea Barp , Luca Bello , Pierre Carlier , Robert-Yves Carlier

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Acta neuropathologica communications
Avec: Pascal Laforêt , Michio Inoue , Evelyne Goillot , Claire Lefeuvre , Umut Cagin , Nathalie Streichenberger , Sarah Leonard-Louis , Guy Brochier , Angeline Madelaine , Clemence Labasse , Carola Hedberg-Oldfors , Thomas Krag , Louisa Jauze , Julien Fabregue , Philippe Labrune , Jose Milisenda , Aleksandra Nadaj-Pakleza , Sabrina Sacconi , Federico Mingozzi , Giuseppe Ronzitti , François Petit , Benedikt Schoser , Anders Oldfors , John Vissing , Norma B Romero , Ichizo Nishino , Edoardo Malfatti

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.

The Lancet. Neurology
Avec: Benedikt Schoser , Mark Roberts , Barry J Byrne , Sheela Sitaraman , Hai Jiang , Pascal Laforêt , Antonio Toscano , Jeff Castelli , Jordi Díaz-Manera , Mitchell Goldman , Ans T van der Ploeg , Drago Bratkovic , Srilakshmi Kuchipudi , Tahseen Mozaffar , Priya S Kishnani , Auteur inconnu

Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.

European heart journal
Avec: Raphaël Porcher , Isabelle Desguerre , Helge Amthor , Brigitte Chabrol , Frédérique Audic , François Rivier , Arnaud Isapof , Vincent Tiffreau , Emmanuelle Campana-Salort , France Leturcq , Sylvie Tuffery-Giraud , Rabah Ben Yaou , Djillali Annane , Pascal Amédro , Christine Barnerias , Henri Marc Bécane , Anthony Béhin , Damien Bonnet , Guillaume Bassez , Mireille Cossée , Grégoire de La Villéon , Claire Delcourte , Abdallah Fayssoil , Bertand Fontaine , François Godart , Sophie Guillaumont , Emmanuelle Jaillette , Pascal Laforêt , Sarah Leonard-Louis , Frederic Lofaso , Michele Mayer , Raul Juntas Morales , Christophe Meune , David Orlikowski , Caroline Ovaert , Hélène Prigent , Malika Saadi , Maximilien Sochala , Celine Tard , Guy Vaksmann , Ulrike Walther-Louvier , Bruno Eymard , Tanya Stojkovic , Philippe Ravaud , Denis Duboc , Karim Wahbi

Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.

European journal of heart failure
Avec: Maria A Restrepo-Cordoba , Karim Wahbi , Anca R Florian , Juan Jiménez-Jáimez , Luisa Politano , Michael Arad , Vicente Climent-Paya , Ana Garcia-Alvarez , Rasmus B Hansen , José M Larrañaga-Moreira , Milos Kubanek , Luis R Lopes , Andrea Ros , Ruxandra Jurcut , Torsten B Rasmussen , Luis Ruiz-Guerrero , Regina Pribe-Wolferts , Julian Palomino-Doza , Zofia Bilinska , José F Rodríguez-Palomares , Rosa L E Van Loon , María Teresa Basurte Elorz , Giovanni Quarta , Maria Robledo Iñarritu , Job A J Verdonschot , Tanya Stojkovic , Zornitsa Shomanova , Francisco Bermudez-Jimenez , Alberto Palladino , Dov Freimark , Maria I García-Álvarez , Paloma Jorda , Fernando Dominguez , Juan Pablo Ochoa , Francesca Girolami , Ramon Brugada , Benjamin Meder , Roberto Barriales-Villa , Jens Mogensen , Pascal Laforêt , Ali Yilmaz , Perry Elliott , Pablo Garcia-Pavia , Auteur inconnu

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

Journal of neurology
Avec: Susana Quijano-Roy , Jana Haberlova , Claudia Castiglioni , John Vissing , Francina Munell , François Rivier , Tanya Stojkovic , Edoardo Malfatti , Marta Gómez García de la Banda , Giorgio Tasca , Laura Costa Comellas , Audrey Benezit , Helge Amthor , Ivana Dabaj , Clara Gontijo Camelo , Pascal Laforêt , John Rendu , Norma B Romero , Eliana Cavassa , Fabiana Fattori , Christophe Beroud , Jana Zídková , Nicolas Leboucq , Nicoline Løkken , Ángel Sanchez-Montañez , Ximena Ortega , Martin Kynčl , Corinne Metay , David Gómez-Andrés , Robert Y Carlier

No effect of triheptanoin in patients with phosphofructokinase deficiency.

Neuromuscular disorders : NMD
Avec: Daniel Emil Raaschou-Pedersen , Karen Lindhardt Madsen , Nicoline Løkken , Jesper Helbo Storgaard , Ros Quinlivan , Pascal Laforêt , Allan Lund , Gerrit Van Hall , John Vissing , Mette Ørngreen

Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

European journal of neurology
Avec: Céline Tard , Françoise Bouhour , Maud Michaud , Stephane Beltran , Maxime Fournier , Florence Demurger , Emmeline Lagrange , Sylvain Nollet , Sabrina Sacconi , Jean-Baptiste Noury , Armelle Magot , Pascal Cintas , Dimitri Renard , Joëlle Deibener-Kaminsky , Claire Lefeuvre , Jean-Baptiste Davion , Emmanuelle Salort-Campana , Azzeddine Arrassi , Nadjib Taouagh , Marco Spinazzi , Auteur inconnu , Shahram Attarian , Pascal Laforêt

French recommendations for the management of glycogen storage disease type III.

European journal of medical research
Avec: Camille Wicker , Aline Cano , Valérie Decostre , Roseline Froissart , François Maillot , Ariane Perry , François Petit , Catherine Voillot , Karim Wahbi , Joëlle Wenz , Pascal Laforêt , Philippe Labrune

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

European journal of neurology
Avec: Edouard Berling , Camille Verebi , Nadia Venturelli , Stéphane Vassilopoulos , Anthony Béhin , Céline Tard , Maud Michaud , Rocio Nur Villar Quiles , Savine Vicart , Marion Masingue , Robert-Yves Carlier , Norma Beatriz Romero , Emmanuelle Lacene , France Leturcq , Bruno Eymard , Pascal Laforêt , Tanya Stojkovic

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.

European journal of neurology
Avec: Harmke A van Kooten , Mike C Horton , Stephan Wenninger , Haris Babačić , Benedikt Schoser , Claire Lefeuvre , Najib Taouagh , Pascal Laforêt , Sonia Segovia , Jordi Díaz-Manera , Kristl G Claeys , Tiziana Mongini , Olimpia Musumeci , Antonio Toscano , Thomas Hundsberger , Esther Brusse , Pieter A van Doorn , Ans T van der Ploeg , Nadine A M E van der Beek , Auteur inconnu

Journal of neurology, neurosurgery, and psychiatry
Avec: Marie Bahout , Gianmarco Severa , Emna Kamoun , Françoise Bouhour , Antoine Pegat , Annick Toutain , Emmeline Lagrange , Fanny Duval , Celine Tard , Elisa De la Cruz , Léonard Féasson , Agnès Jacquin-Piques , Pascale Richard , Corinne Métay , Michele Cavalli , Norma Beatriz Romero , Teresinha Evangelista , Guilhem Sole , Robert Yves Carlier , Pascal Laforêt , Blandine Acket , Anthony Behin , Gorka Fernández-Eulate , Sarah Léonard-Louis , Susana Quijano-Roy , Yann Pereon , Emmanuelle Salort-Campana , Aleksandra Nadaj-Pakleza , Marion Masingue , Edoardo Malfatti , Tanya Stojkovic , Rocío Nur Villar-Quiles

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Pascal Laforêt 55 collaborations
Tanya Stojkovic 19 collaborations
None None 14 collaborations
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Céline Tard 11 collaborations
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Karim Wahbi 11 collaborations
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