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Aleksandra Nadaj-Pakleza

hopital universitaire henri-mondor - aphp
H指数:26
被引数:2,399

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Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review

揭示MYH2相关肌病：来自病例系列和系统综述的组织学-遗传学见解

Journal of Neuromuscular Diseases
IF3.4
2025-11-180
OA
Beatrice Labella; Guy Brochier; Maud Beuvin; Emmanuelle Lacene; Anais Chanut; Angeline Madelaine; Clemence Labasse; Aurelie Méneret; Andreas Roos; Heike Kölbel; Adrian Levine; Grace Yoon; Juliette Svahn; Francoise Bouhour; Natalie Streichenberger; Aleksandra Nadaj-Pakleza; Edoardo Malfatti; Guillaume Bassez; Anthony Behin; Pascal Laforet; Rocio Nur Villar-Quiles; Sarah Leonard-Louis; Thierry Maisonobe; Tanya Stojkovic; Bruno Eymard; Norma Beatriz Romero; Alessandro Padovani; Massimiliano Filosto; Denise Cassandrini; Valerie Biancalana; John Rendu; Kiran Polavarapu; Corinne Métay; Teresinha Evangelista
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study

成人迟发性庞贝病患者死亡原因及合并症：一项法国庞贝注册登记研究

European Journal of Neurology
IF3.9
2025-10-270
OAAI
Diana Maria Chitimus; Céline Tard; Maxime Fournier; Françoise Bouhour; Anthony Béhin; Emmanuelle Salort-Campana; Emmeline Lagrange; Anne-Laure Kaminsky; Armelle Magot; Stéphane Beltran; Jean-Baptiste Noury; Laurent Magy; Guilhem Solé; Dimitri Renard; Marco Spinazzi; Florence Demurger; Pascal Cintas; Aleksandra Nadaj-Pakleza; Joelle Deibener-Kaminsky; Guillaume Bassez; Nadjib Taouagh; Azzedine Arrassi; Claire Lefeuvre; Sharam Attarian; Dalil Hamroun; Pascal Laforêt; for French Pompe study group
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)

罕见神经肌肉疾病患者的诊断困境与诊断延迟：来自法国罕见神经肌肉疾病国家网络（FILNEMUS）和法国国家罕见病数据库（BNDMR）的患者特征洞察

EUROPEAN JOURNAL OF NEUROLOGY
IF3.9
2025-09-010
OAAI
Dumas, Remy; Jannot, Anne-Sophie; Elarouci, Nabila; Salort-Campana, Emmanuelle; Pisella, Lucie; Tard, Celine; Sacconi, Sabrina; Bouhour, Francoise; Sarrazin, Elisabeth; Spinazzi, Marco; Laforet, Pascal; Pereon, Yann; Nadaj-Pakleza, Aleksandra; Echaniz-Laguna, Andoni; Choumert, Ariane; Magy, Laurent; Feasson, Leonard; Esselin, Florence; Cances, Claude; Espile, Caroline; Desguerre, Isabelle; Rouzier, Cecile; Cintas, Pascal; Stojkovic, Tanya; Sole, Guilhem; Attarian, Shahram; FILNEMUS Study Grp
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
IF3
2025-07-010
PRE
Severa, Gianmarco; Bastu, Sultan; Borin, Giovanni Umberto; Decrouy, Xavier; Codina, Anna; Kefi, Kaouthar; Periou, Baptiste; Nadaj-Pakleza, Aleksandra; Lannes, Beatrice; Sacconi, Sabrina; Maurage, Claude-Alain; Tard, Celine; Jou, Cristina; Osorio, Andres Nascimiento; Taglietti, Valentina; Malfatti, Edoardo
Spinal muscular atrophy is also a disorder of spermatogenesis
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-12-200
OAAI
Magot, Armelle; Reignier, Arnaud; Binois, Olivier; Bedat-Millet, Anne Laure; Davion, Jean-Baptiste; Deberge, Louise; Ghorab, Karima; Guyant, Lucie; Laheranne, Emilie; Laforet, Pascal; Lefeuvre, Claire; Mallaret, Martial; Michaud, Maud; Omar, Chahla; Nadaj-Pakleza, Aleksandra; Nicolas, Guillaume; Noury, Jean Baptiste; Pegat, Antoine; Pere, Morgane; Salort-Campana, Emmanuelle; Sole, Guilhem; Spinazzi, Marco; Tard, Celine; Vuillerot, Carole; Pereon, Yann
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2024-10-240
OAAI
Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Francoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Feasson, Leonard; Jacquin-Piques, Agnes; Richard, Pascale; Metay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforet, Pascal; Acket, Blandine; Behin, Anthony; Fernandez-Eulate, Gorka; Leonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocio Nur
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
IF7.4
2023-10-192
PRE
Fargeot, Guillaume; Echaniz-Laguna, Andoni; Labeyrie, Celine; Svahn, Juliette; Camdessanche, Jean-Philippe; Cintas, Pascal; Chanson, Jean-Baptiste; Esselin, Florence; Piedvache, Celine; Verstuyft, Celine; Genestet, Steeve; Lagrange, Emmeline; Magy, Laurent; Pereon, Yann; Sacconi, Sabrina; Signate, Aissatou; Nadaj-Pakleza, Aleksandra; Taithe, Frederic; Viala, Karine; Tard, Celine; Poinsignon, Vianney; Cauquil, Cecile; Attarian, Shahram; Adams, David
Characteristics of Patients With Late-Onset Pompe Disease in France
NEUROLOGY
IF8.5
2023-08-293
OA
Lefeuvre, Claire; De Antonio, Marie; Bouhour, Francoise; Tard, Celine; Salort-Campana, Emmanuelle; Lagrange, Emmeline; Behin, Anthony; Sole, Guilhem; Noury, Jean-Baptiste; Sacconi, Sabrina; Magot, Armelle; Nadaj-Pakleza, Aleksandra; Lacour, Arnaud; Beltran, Stephane; Spinazzi, Marco; Cintas, Pascal; Renard, Dimitri; Michaud, Maud; Bedat-Millet, Anne-Laure; Prigent, Helene; Taouagh, Nadjib; Arrassi, Azzeddine; Hamroun, Dalil; Attarian, Shahram; Laforet, Pascal; Pompe Study Grp
Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple-Source Capture-Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria
ARTHRITIS & RHEUMATOLOGY
IF10.9
2023-08-044
OAAI
Debrut, Lea; Giannini, Margherita; Klein, Delphine; Spielmann, Lionel; Mertz, Philippe; Martin, Thierry; Nadaj-Pakleza, Aleksandra; Hirschi, Sandrine; Nespola, Benoit; Lannes, Beatrice; Terzic, Joelle; Hinschberger, Olivier; Dervieux, Benjamin; Lipsker, Dan; Arnaud, Laurent; Gottenberg, Jacques-Eric; Kleinmann, Jean Francois; Geny, Bernard; Severac, Francois; Velten, Michel; Sibilia, Jean; Meyer, Alain
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
NEUROLOGY-GENETICS
IF3.7
2023-08-016
OAAI
Fernandez-Eulate, Gorka; Theuriet, Julian; Record, Christopher J.; Querin, Giorgia; Masingue, Marion; Leonard-Louis, Sarah; Behin, Anthony; Le Forestier, Nadine; Pegat, Antoine; Michaud, Maud; Chanson, Jean-Baptiste; Nadaj-Pakleza, Aleksandra; Tard, Celine; Bedat-Millet, Anne-Laure; Sole, Guilhem; Spinazzi, Marco; Salort-Campana, Emmanuelle; Echaniz-Laguna, Andoni; Poinsignon, Vianney; Latour, Philippe; Reilly, Mary M.; Bouhour, Francoise; Stojkovic, Tanya
Convergence of patient-and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2022-03-023
OAAI
Sanson, Benoit; Stalens, Caroline; Guien, Celine; Villa, Luisa; Eng, Catherine; Rabarimeriarijaona, Sitraka; Bernard, Rafaelle; Cintas, Pascal; Sole, Guilhem; Tiffreau, Vincent; Echaniz-Laguna, Andoni; Magot, Armelle; Morales, Raul Juntas; Boyer, Francois Constant; Nadaj-Pakleza, Aleksandra; Jacquin-Piques, Agnes; Beroud, Christophe; Sacconi, Sabrina
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-10-2610
OAAI
Pisella, Lucie Isoline; Fernandes, Sara; Sole, Guilhem; Stojkovic, Tanya; Tard, Celine; Chanson, Jean-Baptiste; Bouhour, Francoise; Salort-Campana, Emmanuelle; Beaudonnet, Guillemette; Deberge, Louise; Duval, Fanny; Grapperon, Aude-Marie; Masingue, Marion; Nadaj-Pakleza, Aleksandra; Pereon, Yann; Audic, Frederique; Behin, Anthony; Friedman, Diane; Magot, Armelle; Noury, Jean-Baptiste; Souvannanorath, Sarah; Wahbi, Karim; Antoine, Jean-Christophe; Bigaut, Kevin; Camdessanche, Jean-Philippe; Cintas, Pascal; Debs, Rabab; Espil-Taris, Caroline; Kremer, Laurent; Kuntzer, Thierry; Laforet, 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, Geraldine; Hammouda, Elhadi; Molon, Annamaria; Attarian, Shahram
Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis
NEUROLOGY
IF8.5
2021-04-2046
OA
Sole, Guilhem; Mathis, Stephane; Friedman, Diane; Salort-Campana, Emmanuelle; Tard, Celine; Bouhour, Francoise; Magot, Armelle; Annane, Djillali; Clair, Bernard; Le Masson, Gwendal; Soulages, Antoine; Duval, Fanny; Carla, Louis; Violleau, Marie-Helene; Saulnier, Tiphaine; Segovia-Kueny, Sandrine; Kern, Lea; Antoine, Jean-Christophe; Beaudonnet, Guillemette; Audic, Frederique; Kremer, Laurent; Chanson, Jean-Baptiste; Nadaj-Pakleza, Aleksandra; Stojkovic, Tanya; Cintas, Pascal; Spinazzi, Marco; Foubert-Samier, Alexandra; Attarian, Shahram
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

III型糖原生成 (GSDIII)，脱支酶缺乏症的肌肉活检的深层形态学分析，揭示了刻板的空泡性肌病和自噬障碍

ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2019-10-2822
OAAI
Laforet, Pascal; Inoue, Michio; Goillot, Evelyne; Lefeuvre, Claire; Cagin, Umut; Streichenberger, Nathalie; Leonard-Louis, Sarah; Brochier, Guy; Madelaine, Angeline; Labasse, Clemence; Hedberg-Oldfors, Carola; Krag, Thomas; Jauze, Louisa; Fabregue, Julien; Labrune, Philippe; Milisenda, Jose; Nadaj-Pakleza, Aleksandra; Sacconi, Sabrina; Mingozzi, Federico; Ronzitti, Giuseppe; Petit, Francois; Schoser, Benedikt; Oldfors, Anders; Vissing, John; Romero, Norma B.; Nishino, Ichizo; Malfatti, Edoardo
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
CIRCULATION
IF38.6
2019-07-23143
OAAI
Wahbi, Karim; Ben Yaou, Rabah; Gandjbakhch, Estelle; Anselme, Frederic; Gossios, Thomas; Lakdawala, Neal K.; Stalens, Caroline; Sacher, Frederic; Babuty, Dominique; Trochu, Jean-Noel; Moubarak, Ghassan; Savvatis, Kostantinos; Porcher, Raphael; Laforet, Pascal; Fayssoil, Abdallah; Marijon, Eloi; Stojkovic, Tanya; Behin, Anthony; Leonard-Louis, Sarah; Sole, Guilhem; Labombarda, Fabien; Richard, Pascale; Metay, Corinne; Quijano-Roy, Susana; Dabaj, Ivana; Klug, Didier; Vantyghem, Marie-Christine; Chevalier, Philippe; Ambrosi, Pierre; Salort, Emmanuelle; Sadoul, Nicolas; Waintraub, Xavier; Chikhaoui, Khadija; Mabo, Philippe; Combes, Nicolas; Maury, Philippe; Sellal, Jean-Marc; Tedrow, Usha B.; Kalman, Jonathan M.; Vohra, Jitendra; Androulakis, Alexander F. A.; Zeppenfeld, Katja; Thompson, Tina; Barnerias, Christine; Becane, Henri-Marc; Bieth, Eric; Boccara, Franck; Bonnet, Damien; Bouhour, Francoise; Boule, Stephane; Brehin, Anne-Claire; Chapon, Francoise; Cintas, Pascal; Cuisset, Jean-Marie; Davy, Jean-Marc; De Sandre-Giovannoli, Annachiara; Demurger, Florence; Desguerre, Isabelle; Dieterich, Klaus; Durigneux, Julien; Echaniz-Laguna, Andoni; Eschalier, Romain; Ferreiro, Ana; Ferrer, Xavier; Francannet, Christine; Fradin, Melanie; Gaborit, Benedicte; Gay, Arnaud; Hagege, Albert; Isapof, Arnaud; Jeru, Isabelle; Morales, Raul Juntas; Lagrue, Emmanuelle; Lamblin, Nicolas; Lascols, Olivier; Laugel, Vincent; Lazarus, Arnaud; Leturcq, France; Levy, Nicolas; Magot, Armelle; Manel, Veronique; Martins, Raphael; Mayer, Michele; Mercier, Sandra; Meune, Christophe; Michaud, Maud; Minot-Myhie, Marie-Christine; Muchir, Antoine; Nadaj-Pakleza, Aleksandra; Pereon, Yann; Petiot, Philippe; Petit, Florence; Praline, Julien; Rollin, Anne; Sabouraud, Pascal; Sarret, Catherine; Schaeffer, Stephane; Taithe, Frederic; Tard, Celine; Tiffreau, Vincent; Toutain, Annick; Vatier, Camille; Walther-Louvier, Ulrike; Eymard, Bruno; Charron, Philippe; Vigouroux, Corinne; Bonne, Gisele; Kumar, Saurabh; Elliott, Perry; Duboc, Denis
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
MOLECULAR GENETICS AND METABOLISM
IF3.5
2017-09-0124
PREAI
Papadopoulos, Constantinos; Orlikowsld, David; Prigent, Helene; Lacour, Arnaud; Tard, Celine; Furby, Alain; Praline, Julien; Sole, Guilhem; Hogrel, Jean-Yves; De Antonio, Marie; Semplicini, Claudio; Deibener-Kaminsky, Joelle; Kaminsky, Pierre; Eymard, Bruno; Taouagh, Nadjib; Perniconi, Barbara; Hamroun, Dalil; Laforet, Pascal; Bassez, G.; Bedat-Millet, A. -L.; Behin, A.; Eymard, B.; Leonard -Louis, S.; Stojkovic, T.; Canal, A.; Decostre, V.; Bouhour, F.; Boyer, F.; Caillaud, C.; Castaing, Y.; Chapon, F.; Cintas, P.; Durieu, I.; Echaniz-Laguna, A.; Feasson, L.; Ferrer, X.; Froissart, R.; Piraud, M.; Germain, D.; Benistan, K.; Guffon-Fouilhoux, N.; Journel, H.; Labauge, P.; Levy, A.; Magot, A.; Pereon, Y.; Minot-Myhie, M-C; Nadaj-Pakleza, A.; Nathier, C.; Pellegrini, N.; Petiot, P.; Lofaso, N.; Dutry, A.; Renard, D.; Sacconi, S.; Desnuelle, C.; Salort-Campana, E.; Pouget, J.; Tiffreau, V.; Vincent, D.; Zagnoli, F.

研究方向

暂未获取到该数据
C
Céline Tard
H 指数:33论文数:230被引数:3,978
G
Guilhem Solé
H 指数:29论文数:195被引数:4,000
P
Pascal Laforêt
H 指数:67论文数:549被引数:1.5万
P
Pascal Cintas
H 指数:29论文数:198被引数:3,663
T
Tanya Stojkovic
H 指数:59论文数:446被引数:1.1万
A
Anthony Béhin
H 指数:51论文数:333被引数:8,803
E
Emmanuelle Salort‐Campana
H 指数:37论文数:208被引数:4,824
A
Andoni Echaniz‐Laguna
H 指数:52论文数:306被引数:7,941
A
Armelle Magot
H 指数:30论文数:176被引数:3,150
S
Sabrina Sacconi
H 指数:51论文数:328被引数:9,708