Pascal Laforet: search on Z-Library

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1

Clinical features of late-onset Pompe disease: A prospective cohort study

John H.J. Wokke, Diana M. Escolar, Alan Pestronk, Kenneth M. Jaffe, Gregory T. Carter, Leonard H. van den Berg, Julaine M. Florence, Jill Mayhew, Alison Skrinar, Deyanira Corzo, Pascal Laforet

Journal:

Year:

2008

Language:

english

File:

PDF, 170 KB

english, 2008

2

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

Edoardo Malfatti, Nazha Birouk, Norma B. Romero, Monique Piraud, François M. Petit, Jean-Yves Hogrel, Pascal Laforêt

Journal:

Journal of the Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 1.02 MB

english, 2012

3

Exercise tolerance and daily life in McArdle's disease

Karen Ollivier, Jean-Yves Hogrel, Danielle Gomez-Merino, Norma B. Romero, Pascal Laforêt, Bruno Eymard, Pierre Portero

Journal:

Year:

2005

Language:

english

File:

PDF, 135 KB

english, 2005

4

SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

Echaniz-Laguna, Andoni, Carlier, Robert-Yves, Laloui, Kenza, Carlier, Pierre, Salort-Campana, Emmanuelle, Pouget, Jean, Laforet, Pascal

Journal:

Year:

2015

Language:

english

File:

PDF, 334 KB

english, 2015

5

Permanent muscle weakness in MCArdle disease

Aleksandra A. Nadaj-Pakleza, Carlo M. Vincitorio, Pascal Laforêt, Bruno Eymard, Elisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic

Journal:

Year:

2009

Language:

english

File:

PDF, 233 KB

english, 2009

6

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Cerino, Mathieu, Gorokhova, Svetlana, Laforet, Pascal, Ben Yaou, Rabah, Salort-Campana, Emmanuelle, Pouget, Jean, Attarian, Shahram, Eymard, Bruno, Deleuze, Jean-François, Boland, Anne, Behin, Anthony

Journal:

Year:

2017

Language:

english

File:

PDF, 316 KB

english, 2017

7

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Byrne, Barry J., Geberhiwot, Tarekegn, Barshop, Bruce A., Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reil

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 544 KB

english, 2017

8

A diagnostic flow chart for POLG- related diseases based on signs sensitivity and specificity

Tchikviladzé, Maya, Gilleron, Mylène, Maisonobe, Thierry, Galanaud, Damien, Laforêt, Pascal, Durr, Alexandra, Eymard, Bruno, Mochel, Fanny, Ogier, Hélène, Béhin, Anthony, Stojkovic, Tanya, Degos, Bert

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

9

Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients

Esnault, Julien, Missaoui, Besma, Bendaya, Samy, Mane, Michele, Eymard, Bruno, Laforet, Pascal, Stojkovic, Tanya, Behin, Anthony, Thoumie, Philippe

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 842 KB

english, 2018

10

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

Pena, Loren D.M., Barohn, Richard J., Byrne, Barry J., Desnuelle, Claude, Goker-Alpan, Ozlem, Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Pestronk, Alan, Pouget, Jean, Schoser, Benedikt, Stra

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1.71 MB

english, 2018

11

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg, Hasan O. Akman, Mary Wallace, Frédéric Sedel, Pascal Laforêt, Richard Levy, J. Michael Powers, Sophie Demeret, Thierry Maisonobe, Roseline Froissa

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 344 KB

english, 2012

12

Exertional hyperckemia might be the first manifestation of a genetic disorder

Voermans, Nicol C., Jungbluth, Heinz, Brusse, Esther, van Engelen, Baziel G., Lafôret, Pascal

Journal:

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

13

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, St

Journal:

Journal of Neurology

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

14

Cardiac assessment of limb–girdle muscular dystrophy 2I patients: An echography, Holter ECG and magnetic resonance imaging study

Karim Wahbi, Christophe Meune, El Hadi Hamouda, Tania Stojkovic, Pascal Laforêt, Henri Marc Bécane, Bruno Eymard, Denis Duboc

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 255 KB

english, 2008

15

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C

Journal:

BMJ Open Sport & Exercise Medicine

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

16

Urgences musculaires dans les myopathies métaboliques: la rhabdomyolyse

Chabrol, Brigitte, Laforêt, Pascal, Levraut, Jacques, Vianey-Saban, Christine

Journal:

Anesthésie & Réanimation

Year:

2015

Language:

french

File:

PDF, 1.78 MB

french, 2015

17

Peripheral neuropathy in glycogen storage disease type III: Fact or myth?

Herlin, Bastien, Laforět, Pascal, Labrune, Philippe, Fournier, Emmanuel, Stojkovic, Tanya

Journal:

Year:

2016

Language:

english

File:

PDF, 51 KB

english, 2016

18

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease

Sacconi, Sabrina, Wahbi, Karim, Theodore, Guillaume, Garcia, Jérémy, Salviati, Leonardo, Bouhour, Françoise, Vial, Christophe, Duboc, Denis, Laforêt, Pascal, Desnuelle, Claude

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 141 KB

english, 2014

19

Erratum to ‘Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia’ [Neuromuscular Disorders 19 (2009) 316–323]

Tanya Stojkovic, El Hadi Hammouda, Pascale Richard, Adolfo López de Munain, Javier Ruiz-Martinez, Pilar Camaño, Pascal Laforêt, Isabelle Pénisson-Besnier, Xavier Ferrer, Arnaud Lacour, Lucette Lacombl

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 64 KB

english, 2011

20

Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study

Laforêt, Pascal, Stojkovic, Tanya, Bassez, Guillaume, Carlier, Pierre G., Clément, Karine, Wahbi, Karim, Petit, François M., Eymard, Bruno, Carlier, Robert-Yves

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 996 KB

english, 2013

21

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Landon-Cardinal, Océane, Friedman, Diane, Guiguet, Marguerite, Laforêt, Pascal, Heming, Nicholas, Salort-Campana, Emmanuelle, Jouen, Fabienne, Allenbach, Yves, Boyer, Olivier, Chatenoud, Lucienne, Eym

Journal:

Journal of Neuromuscular Diseases

Year:

2018

Language:

english

File:

PDF, 372 KB

english, 2018

22

Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: A multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial

David Orlikowski, Sylvie Chevret, Maria Antonia Quera-Salva, Pascal Laforêt, Frédéric Lofaso, Annie Verschueren, Jean Pouget, Bruno Eymard, Djillali Annane

Journal:

Clinical Therapeutics

Year:

2009

Language:

english

File:

PDF, 134 KB

english, 2009

23

Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges

Pascal Laforêt, Christine Vianey-Saban

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 929 KB

english, 2010

24

Acute but transient neurological deterioration revealing adult polyglucosan body disease

Ségolène Billot, Dominique Hervé, Hasan O. Akman, Roseline Froissart, Christiane Baussan, Kristl G. Claeys, Monique Piraud, Frédéric Sedel, Fanny Mochel, Pascal Laforêt

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 871 KB

english, 2013

25

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Marey, Isabelle, Ben Yaou, Rabah, Deburgrave, Nathalie, Vasson, Aurélie, Nectoux, Juliette, Leturcq, France, Eymard, Bruno, Laforet, Pascal, Behin, Anthony, Stojkovic, Tanya, Mayer, Michèle, Tiffreau,

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 931 KB

english, 2016

26

1st International Workshop on Clinical trial readiness for sarcoglycanopathies, November 15 – 16, 2016 Evry, France

Marsolier, Justine, Laforet, Pascal, Pegoraro, Elena, Vissing, John, Richard, Isabelle

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 877 KB

english, 2017

27

Cas d’une émerinopathie tardive et peu rétractile : phénotype clinique et radiologique

Calonge, Quentin, Malfatti, Edoardo, Nicolas, Guillaume, Robert-Yves, Carlier, Leturcq, France, Pascal, Laforet, Brisset, Marion

Journal:

Revue Neurologique

Year:

2019

Language:

french

File:

PDF, 168 KB

french, 2019

28

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Pascal Laforêt, Pascale Richard, Mina Ait Said, Norma Beatriz Romero, Emmanuelle Lacene, Jean-Paul Leroy, Christiane Baussan, Jean-Yves Hogrel, Thomas Lavergne, Karim Wahbi, Bernard Hainque, Denis Dub

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 221 KB

english, 2006

29

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

Ans T. van der Ploeg, Richard Barohn, Lisa Carlson, Joel Charrow, Paula R. Clemens, Robert J. Hopkin, Priya S. Kishnani, Pascal Laforêt, Claire Morgan, Sharon Nations, Alan Pestronk, Horacio Plotkin,

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 392 KB

english, 2012

30

Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study

Périé, Sophie, Trollet, Capucine, Mouly, Vincent, Vanneaux, Valérie, Mamchaoui, Kamel, Bouazza, Belaïd, Marolleau, Jean Pierre, Laforêt, Pascal, Chapon, Françoise, Eymard, Bruno, Butler-Browne, Gillia

Journal:

Molecular Therapy

Year:

2014

Language:

english

File:

PDF, 416 KB

english, 2014

31

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency

Stemmerik, Mads Godtfeldt, Madsen, Karen Lindhardt, Laforêt, Pascal, Buch, Astrid Emilie, Vissing, John

Journal:

Year:

2017

Language:

english

File:

PDF, 276 KB

english, 2017

32

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

Tordjman, Mickael, Dabaj, Ivana, Laforet, Pascal, Felter, Adrien, Ferreiro, Ana, Biyoukar, Moustafa, Law-Ye, Bruno, Zanoteli, Edmar, Castiglioni, Claudia, Rendu, John, Beroud, Christophe, Chamouni, Al

Journal:

European Radiology

Year:

2018

Language:

english

File:

PDF, 2.25 MB

english, 2018

33

0460: Right heart involvement in patients with laminopathies

Wahbi, Karim, Viel, Guillaume Durand, Yaou, Rabah Ben, Behin, Anthony, Bécane, Henri-Marc, Laforet, Pascal, Stojkovic, Tanya, Eymard, Bruno, Bonne, Gisèle, Duboc, Denis

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

34

Renal artery fibromuscular dysplasia in Pompe disease: A case report

Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

File:

PDF, 357 KB

2018

35

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

Pascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, Michèle Brivet, Isabelle Penisson-Besnier, Brigitte Chabrol, Denys Chaigne, Odile Boespflug-Tanguy, Cécile Laroche, Anne-Laure Bedat-Millet, Ant

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 277 KB

english, 2009

36

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Pet

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 605 KB

english, 2016

37

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

Fayssoil, Abdallah, Behin, Anthony, Ogna, Adam, Mompoint, Dominique, Amthor, Helge, Clair, Bernard, Laforet, Pascal, Mansart, Arnaud, Prigent, Helene, Orlikowski, David, Stojkovic, Tanya, Vinit, Stéph

Journal:

Journal of Neuromuscular Diseases

Year:

2017

Language:

english

File:

PDF, 759 KB

english, 2017

38

Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study

Karim Wahbi, Christophe Meune, Henri Marc Bécane, Pascal Laforêt, Guillaume Bassez, Arnaud Lazarus, Hélène Radvanyi-Hoffman, Bruno Eymard, Denis Duboc

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 217 KB

english, 2009

39

PNPLA2 mutation: A paediatric case with early onset but indolent course

Perrin, Laurine, Féasson, Léonard, Furby, Alain, Laforêt, Pascal, Petit, François M., Gautheron, Vincent, Chabrier, Stéphane

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 2.73 MB

english, 2013

40

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test

Hogrel, Jean-Yves, Janssen, Jorien B E, Ledoux, Isabelle, Ollivier, Gwenn, Béhin, Anthony, Stojkovic, Tanya, Eymard, Bruno, Voermans, Nicol C, Laforet, Pascal

Journal:

Journal of Clinical Pathology

Year:

2017

Language:

english

File:

PDF, 201 KB

english, 2017

41

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1

Wahbi, Karim, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Bécane, Henri Marc, Lazarus, Arnaud, Sochala, Maximilien, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Arnaud, Pauline,

Journal:

Year:

2018

Language:

english

File:

PDF, 409 KB

english, 2018

42

Patterns of muscle involvement in Pompe disease: A whole-body MRI study

Robert Yves Carlier, Pascal Laforêt, Dominique M. Mompoint, Claire Wary, David Orlikowski

Journal:

Clinical Therapeutics

Year:

2010

Language:

english

File:

PDF, 386 KB

english, 2010

43

0370 : Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

Wahbi, Karim, Bougouin, Wulfran, Behin, Anthony, Stojkovic, Tanya, Bécane, Henri-Marc, Jardel, Claude, Berber, Nawal, Lombès, Anne, Eymard, Bruno, Duboc, Denis, Laforet, Pascal

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

44

0454: Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

Wahbi, Karim, Bougouin, Wulfran, Behin, Anthony, Stojkovic, Tanya, Bécane, Henri-Marc, Jardel, Claude, Berber, Nawal, Lombès, Anne, Eymard, Bruno, Duboc, Denis, Laforet, Pascal

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2016

Language:

english

File:

PDF, 50 KB

english, 2016

45

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1

Wahbi, Karim, Babuty, Dominique, Probst, Vincent, Wissocque, Ludivine, Labombarda, Fabien, Porcher, Raphaël, Bécane, Henri Marc, Lazarus, Arnaud, Béhin, Anthony, Laforêt, Pascal, Stojkovic, Tanya, Cle

Journal:

European Heart Journal

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

46

Non invasive mechanical ventilation in DM1: the strong correlation between lung function, neurological-cognitive function and CTG repeats

Lofaso, Frédéric, Prigent, Hèlene, Annane, Djillali, Orlikowski, David, Wahbi, Karim, Laforêt, Pascal, Eymard, Bruno, Stojkovic, Tanya, Béhin, Anthony, Boussaid, Ghilas

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 661 KB

english, 2018

47

Long-term efficacy of alglucosidase alfa in late-onset Pompe disease

van der Ploeg, Ans, Clemens, Paula, Hopkin, Robert J, Kacena, Katherine, Sanson, Bernd-Jan, Laforet, Pascal

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

48

The role of electrodiagnosis with long exercise test in McArdle disease

Semplicini, Claudio, Hézode-Arzel, Marianne, Laforêt, Pascal, Béhin, Anthony, Leonard-Louis, Sarah, Hogrel, Jean-Yves, Petit, François, Eymard, Bruno, Stojkovic, Tanya, Fournier, Emmanuel

Journal:

Year:

2018

Language:

english

File:

PDF, 866 KB

english, 2018

49

Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy

Fayssoil, Abdallah, Stojkovic, Tanya, Ogna, Adam, Laforet, Pascal, Prigent, Helene, Lofaso, Frederic, Orlikowski, David, Bassez, Guillaume, Eymard, Bruno, Behin, Anthony

Journal:

Year:

2019

File:

PDF, 400 KB

2019

50

Mutations in dynamin 2 cause dominant centronuclear myopathy

Bitoun, Marc, Maugenre, Svetlana, Jeannet, Pierre-Yves, Lacène, Emmanuelle, Ferrer, Xavier, Laforêt, Pascal, Martin, Jean-Jacques, Laporte, Jocelyn, Lochmüller, Hanns, Beggs, Alan H

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 211 KB

english, 2005

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