Acute Asymmetrical Neuritis Associated with Rapid Ultrafiltration Dialysis

著者: Meyrier, Alain, Fardeau, Michel, Richet, Gabriel
出版事項 1972

Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy

著者: Cornu, Christophe, Goubel, Francis, Fardeau, Michel
出版事項 2001

X-Linked Vacuolated Myopathy : TNF-α and IFN-γ Expression in Muscle Fibers with MHC Class I on Sarcolemma

著者: Rouger, Karl, Louboutin, Jean-Pierre, Villanova, Marcello, Cherel, Yan, Fardeau, Michel
出版事項 2001

Extensive morphological and immunohistochemical characterization in myotubular myopathy

著者: Shichiji, Minobu, Biancalana, Valérie, Fardeau, Michel, Hogrel, Jean-Yves, Osawa, Makiko, Laporte, Jocelyn, Romero, Norma Beatriz
出版事項 2013

Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A

著者: Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Richard, Isabelle, Fardeau, Michel, Tomé, Fernando M. S., Hübner, Christoph, Lasa, Adriana, Colomer, Jaume, Beckmann, Jacques S.
出版事項 1998

Natural history of LGMD2A for delineating outcome measures in clinical trials

著者: Richard, Isabelle, Hogrel, Jean‐Yves, Stockholm, Daniel, Payan, Christine A. M., Fougerousse, Françoise, Eymard, Bruno, Mignard, Claude, Lopez de Munain, Adolfo, Fardeau, Michel, Urtizberea, Jon Andoni
出版年 Ann Clin Transl Neurol (2016)

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

著者: Olivé, Montse, Armstrong, Judith, Miralles, Francesc, Pou, Adolf, Fardeau, Michel, Gonzalez, Laura, Martínez, Francesca, Fischer, Dirk, Matos, Juan Antonio Martínez, Shatunov, Alexey, Goldfarb, Lev, Ferrer, Isidre
出版年 Neuromuscul Disord (2007)

Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated Iκbα/Nuclear Factor κb Pathway Perturbation in Mice

著者: Richard, Isabelle, Roudaut, Carinne, Marchand, Sylvie, Baghdiguian, Stephen, Herasse, Muriel, Stockholm, Daniel, Ono, Yasuko, Suel, Laurence, Bourg, Nathalie, Sorimachi, Hiroyuki, Lefranc, Gérard, Fardeau, Michel, Sébille, Alain, Beckmann, Jacques S.
出版事項 2000

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

著者: Romero, Norma B, Xie, Ting, Malfatti, Edoardo, Schaeffer, Ursula, Böhm, Johann, Wu, Bin, Xu, Fengping, Boucebci, Samy, Mathis, Stéphane, Neau, Jean-Philippe, Monnier, Nicole, Fardeau, Michel, Laporte, Jocelyn
出版事項 2014

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

著者: Feldman, George, Li, Ming, Martin, Shelden, Urbanek, Margrit, Urtizberea, J. Andoni, Fardeau, Michel, LeMerrer, Martine, Connor, J. Michael, Triffitt, James, Smith, Roger, Muenke, Maximilian, Kaplan, Frederick S., Shore, Eileen M.
出版事項 2000

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

著者: Lornage, Xavière, Schartner, Vanessa, Balbueno, Inès, Biancalana, Valérie, Willis, Tracey, Echaniz-Laguna, Andoni, Scheidecker, Sophie, Quinlivan, Ros, Fardeau, Michel, Malfatti, Edoardo, Lannes, Béatrice, Sewry, Caroline, Romero, Norma B., Laporte, Jocelyn, Böhm, Johann
出版年 Acta Neuropathol Commun (2019)

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

著者: Richard, Pascale, Trollet, Capucine, Gidaro, Teresa, Demay, Laurence, Brochier, Guy, Malfatti, Edoardo, Tom, Fernando MS, Fardeau, Michel, Lafor, Pascal, Romero, Norma, Martin-N, Marie-Laure, Sol, Guilhem, Ferrer-Monasterio, Xavier, Saint-Guily, Jean Lacau, Eymard, Bruno
出版年 J Neuromuscul Dis (2015)

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Ea...

著者: Ferreiro, Ana, Quijano-Roy, Susana, Pichereau, Claire, Moghadaszadeh, Behzad, Goemans, Nathalie, Bönnemann, Carsten, Jungbluth, Heinz, Straub, Volker, Villanova, Marcello, Leroy, Jean-Paul, Romero, Norma B., Martin, Jean-Jacques, Muntoni, Francesco, Voit, Thomas, Estournet, Brigitte, Richard, Pascale, Fardeau, Michel, Guicheney, Pascale
出版事項 2002

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

著者: Ben Ammar, Asma, Soltanzadeh, Payam, Bauché, Stéphanie, Richard, Pascale, Goillot, Evelyne, Herbst, Ruth, Gaudon, Karen, Huzé, Caroline, Schaeffer, Laurent, Yamanashi, Yuji, Higuchi, Osamu, Taly, Antoine, Koenig, Jeanine, Leroy, Jean-Paul, Hentati, Fayçal, Najmabadi, Hossein, Kahrizi, Kimia, Ilkhani, Manouchehr, Fardeau, Michel, Eymard, Bruno, Hantaï, Daniel
出版事項 2013

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

著者: Ben Ammar, Asma, Soltanzadeh, Payam, Bauché, Stéphanie, Richard, Pascale, Goillot, Evelyne, Herbst, Ruth, Gaudon, Karen, Huzé, Caroline, Schaeffer, Laurent, Yamanashi, Yuji, Higuchi, Osamu, Taly, Antoine, Koenig, Jeanine, Leroy, Jean-Paul, Hentati, Fayçal, Najmabadi, Hossein, Kahrizi, Kimia, Ilkhani, Manouchehr, Fardeau, Michel, Eymard, Bruno, Hantaï, Daniel
出版事項 2013

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

著者: Huzé, Caroline, Bauché, Stéphanie, Richard, Pascale, Chevessier, Frédéric, Goillot, Evelyne, Gaudon, Karen, Ben Ammar, Asma, Chaboud, Annie, Grosjean, Isabelle, Lecuyer, Heba-Aude, Bernard, Véronique, Rouche, Andrée, Alexandri, Nektaria, Kuntzer, Thierry, Fardeau, Michel, Fournier, Emmanuel, Brancaccio, Andrea, Rüegg, Markus A., Koenig, Jeanine, Eymard, Bruno, Schaeffer, Laurent, Hantaï, Daniel
出版事項 2009

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

著者: Huzé, Caroline, Bauché, Stéphanie, Richard, Pascale, Chevessier, Frédéric, Goillot, Evelyne, Gaudon, Karen, Ben Ammar, Asma, Chaboud, Annie, Grosjean, Isabelle, Lecuyer, Heba-Aude, Bernard, Véronique, Rouche, Andrée, Alexandri, Nektaria, Kuntzer, Thierry, Fardeau, Michel, Fournier, Emmanuel, Brancaccio, Andrea, Rüegg, Markus A., Koenig, Jeanine, Eymard, Bruno, Schaeffer, Laurent, Hantaï, Daniel
出版事項 2009

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

著者: Böhm, Johann, Chevessier, Frédéric, De Paula, André Maues, Koch, Catherine, Attarian, Shahram, Feger, Claire, Hantaï, Daniel, Laforêt, Pascal, Ghorab, Karima, Vallat, Jean-Michel, Fardeau, Michel, Figarella-Branger, Dominique, Pouget, Jean, Romero, Norma B., Koch, Marc, Ebel, Claudine, Levy, Nicolas, Krahn, Martin, Eymard, Bruno, Bartoli, Marc, Laporte, Jocelyn
出版事項 2013

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

著者: Pelin, Katarina, Hilpelä, Pirta, Donner, Kati, Sewry, Caroline, Akkari, Patrick A., Wilton, Stephen D., Wattanasirichaigoon, Duangrurdee, Bang, Marie-Louise, Centner, Thomas, Hanefeld, Folker, Odent, Sylvie, Fardeau, Michel, Urtizberea, J. Andoni, Muntoni, Francesco, Dubowitz, Victor, Beggs, Alan H., Laing, Nigel G., Labeit, Siegfried, de la Chapelle, Albert, Wallgren-Pettersson, Carina
出版事項 1999

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

著者: Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen AC, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B
出版年 Acta Neuropathol Commun (2014)