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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Author / Creator:Dogan, Celine ; De Antonio, Marie ; Hamroun, Dalil ; Varet, Hugo ; Fabbro, Marianne ; Rougier, Felix ; Amarof, Khadija ; Arne Bes, Marie-Christine ; Bedat-Millet, Anne-Laure ; Behin, Anthony ; Bellance, Remi ; Bouhour, Françoise ; Boutte, Celia ; Boyer, François ; Campana-Salort, Emmanuelle ; Chapon, Françoise ; Cintas, Pascal ; Desnuelle, Claude ; Deschamps, Romain ; Drouin-Garraud, Valerie ; Ferrer, Xavier ; Gervais-Bernard, Helene ; Ghorab, Karima ; Laforet, Pascal ; Magot, Armelle ; Magy, Laurent ; Menard, Dominique ; Minot, Marie-Christine ; Nadaj-Pakleza, Aleksandra ; Pellieux, Sybille ; Pereon, Yann ; Preudhomme, Marguerite ; Pouget, Jean ; Sacconi, Sabrina ; Sole, Guilhem ; Stojkovich, Tanya ; Tiffreau, Vincent ; Urtizberea, Andoni ; Vial, Christophe ; Zagnoli, Fabien ; Caranhac, Gilbert ; Bourlier, Claude ; Riviere, Gerard ; Geille, Alain ; Gherardi, Romain K ; Eymard, Bruno ; Puymirat, Jack ; Katsahian, Sandrine ; Bassez, Guillaume
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-02, Vol.11 (2), p.e0148264-e0148264
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Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect
Author / Creator:Bonnefont, Jean-Paul ; Djouadi, Fatima ; Behin, Anthony ; Bastin, Jean
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2009-02, Vol.360 (8), p.838-840
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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
Author / Creator:Fayssoil, Abdallah ; Nguyen, Lee S ; Ogna, Adam ; Stojkovic, Tanya ; Meng, Paris ; Mompoint, Dominique ; Carlier, Robert ; Prigent, Helene ; Clair, Bernard ; Behin, Anthony ; Laforet, Pascal ; Bassez, Guillaume ; Crenn, Pascal ; Orlikowski, David ; Annane, Djillali ; Eymard, Bruno ; Lofaso, Frederic
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-04, Vol.14 (4), p.e0214288-e0214288
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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
Author / Creator:Masingue, Marion ; Cattaneo, Olivia ; Wolff, Nicolas ; Buon, Céline ; Sternberg, Damien ; Euchparmakian, Morgane ; Boex, Myriam ; Behin, Anthony ; Mamchaouhi, Kamel ; Maisonobe, Thierry ; Nougues, Marie-Christine ; Isapof, Arnaud ; Fontaine, Bertrand ; Messéant, Julien ; Eymard, Bruno ; Strochlic, Laure ; Bauché, Stéphanie
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-08, Vol.13 (1), p.14054-14054, Article 14054
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Coupling between skeletal muscle fiber size and capillarization is maintained during healthy aging
Author / Creator:Barnouin, Yoann ; McPhee, Jamie S. ; Butler‐Browne, Gillian ; Bosutti, Alessandra ; De Vito, Giuseppe ; Jones, David A. ; Narici, Marco ; Behin, Anthony ; Hogrel, Jean‐Yves ; Degens, Hans
Publisher:Germany: John Wiley & Sons, Inc
Journal title:Journal of cachexia, sarcopenia and muscle, 2017-08, Vol.8 (4), p.647-659
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Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology
Author / Creator:Truffault, Frédérique ; Auger, Ludivine ; Dragin, Nadine ; Vilquin, Jean-Thomas ; Fadel, Elie ; Thomas de Montpreville, Vincent ; Mansuet-Lupo, Audrey ; Regnard, Jean-François ; Alifano, Marco ; Sharshar, Tarek ; Behin, Anthony ; Eymard, Bruno ; Bolgert, Francis ; Demeret, Sophie ; Berrih-Aknin, Sonia ; Le Panse, Rozen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-06, Vol.14 (1), p.13955-10, Article 13955
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Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D
Author / Creator:Fayssoil, Abdallah ; Ogna, Adam ; Chaffaut, Cendrine ; Chevret, Sylvie ; Guimarães-Costa, Raquel ; Leturcq, France ; Wahbi, Karim ; Prigent, Helene ; Lofaso, Frederic ; Nardi, Olivier ; Clair, Bernard ; Behin, Anthony ; Stojkovic, Tanya ; Laforet, Pascal ; Orlikowski, David ; Annane, Djillali
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-04, Vol.11 (4), p.e0153095
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A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
Author / Creator:Pisella, Lucie Isoline ; Fernandes, Sara ; Solé, Guilhem ; Stojkovic, Tanya ; Tard, Céline ; Chanson, Jean-Baptiste ; Bouhour, Françoise ; Salort-Campana, Emmanuelle ; Beaudonnet, Guillemette ; Debergé, Louise ; Duval, Fanny ; Grapperon, Aude-Marie ; Masingue, Marion ; Nadaj-Pakleza, Aleksandra ; Péréon, Yann ; Audic, Frédérique ; Behin, Anthony ; Friedman, Diane ; Magot, Armelle ; Noury, Jean-Baptiste ; Souvannanorath, Sarah ; Wahbi, Karim ; Antoine, Jean-Christophe ; Bigaut, Kévin ; Camdessanché, Jean-Philippe ; Cintas, Pascal ; Debs, Rabab ; Espil-Taris, Caroline ; Kremer, Laurent ; Kuntzer, Thierry ; Laforêt, Pascal ; Laugel, Vincent ; Mallaret, Martial ; Michaud, Maud ; Nollet, Sylvain ; Svahn, Juliette ; Vicart, Savine ; Villar-Quiles, Rocio Nur ; Desguerre, Isabelle ; Adams, David ; Segovia-Kueny, Sandrine ; Merret, Géraldine ; Hammouda, Elhadi ; Molon, Annamaria ; Attarian, Shahram
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-450, Article 450
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Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA
Author / Creator:El Mendili, Mohamed-Mounir ; Lenglet, Timothée ; Stojkovic, Tanya ; Behin, Anthony ; Guimarães-Costa, Raquel ; Salachas, François ; Meininger, Vincent ; Bruneteau, Gaelle ; Le Forestier, Nadine ; Laforêt, Pascal ; Lehéricy, Stéphane ; Benali, Habib ; Pradat, Pierre-François
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-04, Vol.11 (4), p.e0152439-e0152439
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ArticlesPeer ReviewedFull Text
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis
Author / Creator:Fayssoil, Abdallah ; Ben Yaou, Rabah ; Ogna, Adam ; Chaffaut, Cendrine ; Leturcq, France ; Nardi, Olivier ; Wahbi, Karim ; Duboc, Denis ; Lofaso, Frederic ; Prigent, Helene ; Clair, Bernard ; Crenn, Pascal ; Nicolas, Guillaume ; Laforet, Pascal ; Behin, Anthony ; Chevret, Sylvie ; Orlikowski, David ; Annane, Djillali
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-01, Vol.13 (1), p.e0190518-e0190518
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Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA
Author / Creator:El Mendili, Mohamed-Mounir ; Lenglet, Timothée ; Stojkovic, Tanya ; Behin, Anthony ; Guimarães-Costa, Raquel ; Salachas, François ; Meininger, Vincent ; Bruneteau, Gaelle ; Le Forestier, Nadine ; Laforêt, Pascal ; Lehéricy, Stéphane ; Benali, Habib ; Pradat, Pierre-François
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0167886-e0167886
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A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient
Author / Creator:Dubourg, Odile ; Maisonobe, Thierry ; Behin, Anthony ; Suominen, Tiina ; Raheem, Olayinka ; Penttilä, Sini ; Parton, Matt ; Eymard, Bruno ; Dahl, Arve ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2011-06, Vol.258 (6), p.1157-1163
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Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
Author / Creator:Claeys, Kristl G. ; van der Ven, Peter F. M. ; Behin, Anthony ; Stojkovic, Tanya ; Eymard, Bruno ; Dubourg, Odile ; Laforêt, Pascal ; Faulkner, Georgine ; Richard, Pascale ; Vicart, Patrick ; Romero, Norma B. ; Stoltenburg, Gisela ; Udd, Bjarne ; Fardeau, Michel ; Voit, Thomas ; Fürst, Dieter O.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2009-03, Vol.117 (3), p.293-307
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Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
Author / Creator:Reyngoudt Harmen ; Marty, Benjamin ; Jean-Marc, Boisserie ; Julien, Le Louër ; Cedi, Koumako ; Baudin Pierre-Yves ; Wong, Brenda ; Stojkovic, Tanya ; Béhin Anthony ; Gidaro Teresa ; Allenbach Yves ; Benveniste Olivier ; Servais, Laurent ; Carlier, Pierre G
Publisher:Heidelberg: Springer Nature B.V
Journal title:European radiology, 2021-06, Vol.31 (6), p.4264-4276
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Hyperammonaemia following exercise may also reveal PGK1 deficiency
Author / Creator:Hogrel, Jean-Yves ; Ledoux, Isabelle ; Béhin, Anthony
Publisher:England: BMJ Publishing Group Ltd and Association of Clinical Pathologists
Journal title:Journal of clinical pathology, 2019-06, Vol.72 (6), p.452-452
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Congenital myopathies are mainly associated with a mild cardiac phenotype
Author / Creator:Petri, Helle ; Wahbi, Karim ; Witting, Nanna ; Køber, Lars ; Bundgaard, Henning ; Kamoun, Emna ; Vellieux, Geoffroy ; Stojkovic, Tanya ; Béhin, Anthony ; Laforet, Pascal ; Vissing, John
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2019-06, Vol.266 (6), p.1367-1375
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Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation
Author / Creator:Hovhannisyan, Yeranuhi ; Li, Zhenlin ; Callon, Domitille ; Suspène, Rodolphe ; Batoumeni, Vivien ; Canette, Alexis ; Blanc, Jocelyne ; Hocini, Hakim ; Lefebvre, Cécile ; El-Jahrani, Nora ; Kitsara, Maria ; L'honoré, Aurore ; Kordeli, Ekaterini ; Fornes, Paul ; Concordet, Jean-Paul ; Tachdjian, Gérard ; Rodriguez, Anne-Marie ; Vartanian, Jean-Pierre ; Béhin, Anthony ; Wahbi, Karim ; Joanne, Pierre ; Agbulut, Onnik
Publisher:England: BioMed Central Ltd
Journal title:Stem cell research & therapy, 2024-01, Vol.15 (1), p.10-10, Article 10
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Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry
Author / Creator:Retailleau, Emilie ; Lefeuvre, Claire ; De Antonio, Marie ; Bouhour, Françoise ; Tard, Celine ; Salort‐Campana, Emmanuelle ; Lagrange, Emmeline ; Béhin, Anthony ; Solé, Guilhem ; Noury, Jean‐Baptiste ; Sacconi, Sabrina ; Magot, Armelle ; Pakleza, Aleksandra Nadaj ; Orlikowski, David ; Beltran, Stéphane ; Spinazzi, Marco ; Cintas, Pascal ; Fournier, Maxime ; Bouibede, Fatma ; Prigent, Hélène ; Nicolas, Guillaume ; Taouagh, Nadjib ; El Guizani, Taissir ; Attarian, Shahram ; Arrassi, Azzeddine ; Hamroun, Dalil ; Laforêt, Pascal
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-10, Vol.31 (10), p.e16428-n/a
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A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Author / Creator:Tchikviladzé, Maya ; Gilleron, Mylène ; Maisonobe, Thierry ; Galanaud, Damien ; Laforêt, Pascal ; Durr, Alexandra ; Eymard, Bruno ; Mochel, Fanny ; Ogier, Hélène ; Béhin, Anthony ; Stojkovic, Tanya ; Degos, Bertrand ; Gourfinkel-An, Isabelle ; Sedel, Frederic ; Anheim, Mathieu ; Elbaz, Alexis ; Viala, Karine ; Vidailhet, Marie ; Brice, Alexis ; Jardel, Claude ; Lombès, Anne
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2015-06, Vol.86 (6), p.646-654
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A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
Author / Creator:Ame van der Beek, Nadine ; Nelson, Isabelle ; Froissart, Roseline ; Levade, Thierry ; Garcia, Virginie ; Lacene, Emmanuelle ; Boland, Anne ; Masson, Cécile ; Romero, Norma B ; Stojkovic, Tanya ; Bonne, Gisèle ; Béhin, Anthony
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.337-339
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

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Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect

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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

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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

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Coupling between skeletal muscle fiber size and capillarization is maintained during healthy aging

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Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology

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Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D

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

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Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

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Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis

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Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

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A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

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Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

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Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases

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Hyperammonaemia following exercise may also reveal PGK1 deficiency

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Congenital myopathies are mainly associated with a mild cardiac phenotype

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Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation

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

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

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A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

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