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The role of electrodiagnosis with long exercise test in mcardle disease.
Published in:
2018
By:
- Semplicini, Claudio;
- Hézode‐arzel, Marianne;
- Laforêt, Pascal;
- Béhin, Anthony;
- Leonard‐Louis, Sarah;
- Hogrel, Jean‐Yves;
- Petit, François;
- Eymard, Bruno;
- Stojkovic, Tanya;
- Fournier, Emmanuel;
- Hézode-Arzel, Marianne;
- Leonard-Louis, Sarah;
- Hogrel, Jean-Yves
Publication type:
journal article
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.
Published in:
2018
By:
- Robert‐Varvat, Florence;
- Jousserand, Guillemette;
- Bouhour, Françoise;
- Vial, Christophe;
- Cintas, Pascal;
- Echaniz‐Laguna, Andoni;
- Delmont, Emilien;
- Clavelou, Pierre;
- Chauplannaz, Guy;
- Jomir, Laurent;
- Pereon, Yann;
- Leonard‐Louis, Sarah;
- Manel, Veronique;
- Antoine, Jean‐Christophe;
- Lacour, Arnaud;
- Camdessanche, Jean‐Philippe;
- Robert-Varvat, Florence;
- Echaniz-Laguna, Andoni;
- Leonard-Louis, Sarah;
- Antoine, Jean-Christophe
Publication type:
journal article
High intra-familiar clinical variability in MORC2 mutated CMT2 patients.
Published in:
2017
By:
- Semplicini, Claudio;
- Ollagnon-Roman, Elisabeth;
- Leonard-Louis, Sarah;
- Piguet-Lacroix, Guenaelle;
- Silvestre, Manon;
- Latour, Philippe;
- Stojkovic, Tanya
Publication type:
Letter
Myopathy related to chronic Graft‐Versus‐Host Disease: From clinic to histological & immunological characterization by imaging mass cytometry.
Published in:
American Journal of Hematology, 2024, v. 99, n. 6, p. 1187, doi. 10.1002/ajh.27294
By:
- Bourhis, Amélie;
- Robin, Marie;
- Nguyen, Stéphanie;
- Uguen, Arnaud;
- Hemon, Patrice;
- Dhedin, Nathalie;
- Maisonobe, Thierry;
- de Masson, Adèle;
- Benveniste, Olivier;
- Socié, Gérard;
- Peffault de La Tour, Régis;
- Leonard‐Louis, Sarah;
- Hervier, Baptiste
Publication type:
Article
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
Published in:
2017
By:
- Papadopoulos, Constantinos;
- LaforÊt, Pascal;
- Nectoux, Juliette;
- Stojkovic, Tanya;
- Wahbi, Karim;
- Carlier, Robert‐Yves;
- Carlier, Pierre G;
- Leonard‐Louis, Sarah;
- Leturcq, France;
- Romero, Norma;
- Eymard, Bruno;
- Behin, Anthony
Publication type:
journal article
Rare myopathy associated to MGUS, causing heart failure and responding to chemotherapy.
Published in:
2017
By:
- Belhomme, Nicolas;
- Maamar, Adel;
- Le Gallou, Thomas;
- Minot-Myhié, Marie-Christine;
- Larralde, Antoine;
- Champtiaux, Nicolas;
- Benveniste, Olivier;
- Leonard-Louis, Sarah;
- Decaux, Olivier;
- Lescoat, Alain;
- Le Tulzo, Yves;
- Minot-Myhié, Marie-Christine
Publication type:
Case Study
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2
By:
- Laforêt, 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
Publication type:
Article
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.
Published in:
JAMA Neurology, 2018, v. 75, n. 5, p. 573, doi. 10.1001/jamaneurol.2017.4778
By:
- Wahbi, Karim;
- Porcher, Raphaël;
- Laforêt, Pascal;
- Fayssoil, Abdallah;
- Bécane, Henri Marc;
- Lazarus, Arnaud;
- Sochala, Maximilien;
- Stojkovic, Tanya;
- Béhin, Anthony;
- Leonard-Louis, Sarah;
- Arnaud, Pauline;
- Furling, Denis;
- Probst, Vincent;
- Babuty, Dominique;
- Pellieux, Sybille;
- Clementy, Nicolas;
- Bassez, Guillaume;
- Péréon, Yann;
- Eymard, Bruno;
- Duboc, Denis
Publication type:
Article
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 495, doi. 10.3233/JND-200620
By:
- Stalens, Caroline;
- Motté, Leslie;
- Béhin, Anthony;
- Yaou, Rabah Ben;
- Leturcq, France;
- Bassez, Guillaume;
- Laforêt, Pascal;
- Fontaine, Bertrand;
- Ederhy, Stéphane;
- Masingue, Marion;
- Saadi, Malika;
- Louis, Sarah Leonard;
- Berber, Nawal;
- Stojkovic, Tanya;
- Duboc, Denis;
- Wahbi, Karim
Publication type:
Article
Edematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis.
Published in:
Brain Pathology, 2020, v. 30, n. 5, p. 867, doi. 10.1111/bpa.12844
By:
- Duchesne, Mathilde;
- Leonard‐Louis, Sarah;
- Landon‐Cardinal, Océane;
- Anquetil, Céline;
- Mariampillai, Kuberaka;
- Monzani, Quentin;
- Benveniste, Olivier;
- Allenbach, Yves
Publication type:
Article
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Published in:
2019
By:
- Pareyson, Davide;
- Stojkovic, Tanya;
- Reilly, Mary M.;
- Leonard‐Louis, Sarah;
- Laurà, Matilde;
- Blake, Julian;
- Parman, Yesim;
- Battaloglu, Esra;
- Tazir, Meriem;
- Bellatache, Mounia;
- Bonello‐Palot, Nathalie;
- Lévy, Nicolas;
- Sacconi, Sabrina;
- Guimarães‐Costa, Raquel;
- Attarian, Sharham;
- Latour, Philippe;
- Solé, Guilhem;
- Megarbane, André;
- Horvath, Rita;
- Ricci, Giulia
Publication type:
journal article
Clinical and genetic features of patients suffering from CMT4J.
Published in:
Journal of Neurology, 2024, v. 271, n. 3, p. 1355, doi. 10.1007/s00415-023-12076-4
By:
- Beloribi-Djefaflia, Sadia;
- Morales, Raul Juntas;
- Fatehi, Farzad;
- Isapof, Arnaud;
- Servais, Laurent;
- Leonard-Louis, Sarah;
- Michaud, Maud;
- Verdure, Pierre;
- Gidaro, Teresa;
- Pouget, Jean;
- Poinsignon, Vianney;
- Bonello-Palot, Nathalie;
- Attarian, Shahram
Publication type:
Article
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Published in:
Journal of Neurology, 2019, v. 266, n. 3, p. 680, doi. 10.1007/s00415-019-09187-2
By:
- Palmio, Johanna;
- Leonard-Louis, Sarah;
- Sacconi, Sabrina;
- Savarese, Marco;
- Penttilä, Sini;
- Semmler, Anna-Lena;
- Kress, Wolfram;
- Mozaffar, Tahseen;
- Lai, Tim;
- Stojkovic, Tanya;
- Berardo, Andres;
- Reisin, Ricardo;
- Attarian, Shahram;
- Urtizberea, Andoni;
- Cobo, Ana Maria;
- Maggi, Lorenzo;
- Kurbatov, Sergei;
- Nikitin, Sergei;
- Milisenda, José C.;
- Fatehi, Farzad
Publication type:
Article
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 459, doi. 10.1002/jimd.12185
By:
- Papadopoulos, Constantinos;
- Wahbi, Karim;
- Behin, Anthony;
- Bougouin, Wulfran;
- Stojkovic, Tanya;
- Leonard‐Louis, Sarah;
- Berber, Nawal;
- Lombès, Anne;
- Duboc, Denis;
- Jardel, Claude;
- Eymard, Bruno;
- Laforêt, Pascal
Publication type:
Article
Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
Published in:
European Journal of Neurology, 2023, v. 30, n. 10, p. 3265, doi. 10.1111/ene.15937
By:
- Barbat du Closel, Luce;
- Bonello‐Palot, Nathalie;
- Péréon, Yann;
- Echaniz‐Laguna, Andoni;
- Camdessanche, Jean Philippe;
- Nadaj‐Pakleza, Aleksandra;
- Chanson, Jean‐Baptiste;
- Frachet, Simon;
- Magy, Laurent;
- Cassereau, Julien;
- Cintas, Pascal;
- Choumert, Ariane;
- Devic, Perrine;
- Leonard Louis, Sarah;
- Gravier Dumonceau, Robinson;
- Delmont, Emilien;
- Salort‐Campana, Emmanuelle;
- Bouhour, Françoise;
- Latour, Philippe;
- Stojkovic, Tanya
Publication type:
Article
SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Published in:
European Journal of Neurology, 2023, v. 30, n. 7, p. 2001, doi. 10.1111/ene.15793
By:
- Pons, Nicolas;
- Fernández‐Eulate, Gorka;
- Pegat, Antoine;
- Théaudin, Marie;
- Guieu, Régis;
- Ripellino, Paolo;
- Devedjian, Manon;
- Mace, Patrick;
- Masingue, Marion;
- Léonard‐Louis, Sarah;
- Petiot, Philipe;
- Roche, Pauline;
- Bernard, Emilien;
- Bouhour, Françoise;
- Good, Jean‐Marc;
- Verschueren, Annie;
- Grapperon, Aude‐Marie;
- Salort, Emmanuelle;
- Grosset, Anaïs;
- Chanson, Jean‐Baptiste
Publication type:
Article
Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy.
Published in:
European Journal of Neurology, 2021, v. 28, n. 9, p. 2913, doi. 10.1111/ene.14948
By:
- Subréville, Marie;
- Bonello‐Palot, Nathalie;
- Yahiaoui, Douniazed;
- Beloribi‐Djefaflia, Sadia;
- Fernandes, Sara;
- Stojkovic, Tanya;
- Cassereau, Julien;
- Péréon, Yann;
- Echaniz‐Laguna, Andoni;
- Violleau, Marie‐Hélène;
- Soulages, Antoine;
- Louis, Sarah Léonard;
- Masingue, Marion;
- Magot, Armelle;
- Delmont, Emilien;
- Sacconi, Sabrina;
- Adams, David;
- Labeyrie, Céline;
- Genestet, Steeve;
- Noury, Jean‐Baptiste
Publication type:
Article
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.
Published in:
European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
By:
- Fernández‐Eulate, Gorka;
- Querin, Giorgia;
- Moore, Ursula;
- Behin, Anthony;
- Masingue, Marion;
- Bassez, Guillaume;
- Leonard‐Louis, Sarah;
- Laforêt, Pascal;
- Maisonobe, Thierry;
- Merle, Philippe‐Edouard;
- Spinazzi, Marco;
- Solé, Guilhem;
- Kuntzer, Thierry;
- Bedat‐Millet, Anne‐Laure;
- Salort‐Campana, Emmanuelle;
- Attarian, Shahram;
- Péréon, Yann;
- Feasson, Leonard;
- Graveleau, Julie;
- Nadaj‐Pakleza, Aleksandra
Publication type:
Article
Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy.
Published in:
Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02765-3
By:
- Holzer, Marie-Therese;
- Uruha, Akinori;
- Roos, Andreas;
- Hentschel, Andreas;
- Schänzer, Anne;
- Weis, Joachim;
- Claeys, Kristl G.;
- Schoser, Benedikt;
- Montagnese, Federica;
- Goebel, Hans-Hilmar;
- Huber, Melanie;
- Léonard-Louis, Sarah;
- Kötter, Ina;
- Streichenberger, Nathalie;
- Gallay, Laure;
- Benveniste, Olivier;
- Schneider, Udo;
- Preusse, Corinna;
- Krusche, Martin;
- Stenzel, Werner
Publication type:
Article
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis.
Published in:
Acta Neuropathologica, 2022, v. 144, n. 2, p. 353, doi. 10.1007/s00401-022-02438-z
By:
- Preuße, Corinna;
- Paesler, Barbara;
- Nelke, Christopher;
- Cengiz, Derya;
- Müntefering, Thomas;
- Roos, Andreas;
- Amelin, Damien;
- Allenbach, Yves;
- Uruha, Akinori;
- Dittmayer, Carsten;
- Hentschel, Andreas;
- Pawlitzki, Marc;
- Hoffmann, Sarah;
- Timm, Sara;
- Louis, Sarah Leonard;
- Dengler, Nora F.;
- Wiendl, Heinz;
- Lünemann, Jan D.;
- Sickmann, Albert;
- Hervier, Baptiste
Publication type:
Article

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