ColVI myopathies: where do we stand, where do we go?

par Allamand, Valérie, Briñas, Laura, Richard, Pascale, Stojkovic, Tanya, Quijano-Roy, Susana, Bonne, Gisèle
Publié 2011

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

par Richard, Pascale, Trollet, Capucine, Stojkovic, Tanya, de Becdelievre, Alix, Perie, Sophie, Pouget, Jean, Eymard, Bruno
Publié dans Neurology (2017)

Unusual MR Findings of the Brain Stem in Arterial Hypertension

par de Seze, Jérôme, Mastain, Bruno, Stojkovic, Tanya, Ferriby, Didier, Pruvo, Jean Pierre, Destée, Alain, Vermersch, Patrick
Publié dans AJNR Am J Neuroradiol (2000)

Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report

par Fayssoil, Abdallah, Stojkovic, Tanya, Ogna, Adam, Laforet, Pascal, Prigent, Helene, Lofaso, Frederic, Orlikowski, David, Bassez, Guillaume, Eymard, Bruno, Behin, Anthony
Publié dans Medicine (Baltimore) (2019)

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

par Boizot, Alexia, Talmat-Amar, Yasmina, Morrogh, Deborah, Kuntz, Nancy L, Halbert, Cecile, Chabrol, Brigitte, Houlden, Henry, Stojkovic, Tanya, Schulman, Brenda A, Rautenstrauss, Bernd, Bomont, Pascale
Publié dans Acta Neuropathol Commun (2014)

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

par 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
Publié dans Eur J Hum Genet (2018)

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

par González-del Angel, Ariadna, Bisciglia, Michela, Vargas-Cañas, Steven, Fernandez-Valverde, Francisca, Kazakova, Ekaterina, Escobar, Rosa Elena, Romero, Norma B., Jardel, Claude, Rucheton, Benoit, Stojkovic, Tanya, Malfatti, Edoardo
Publié dans Front Neurol (2019)

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

par Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle
Publié dans J Neuromuscul Dis (2015)

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

par 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
Publié dans PLoS One (2016)

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

par 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
Publié dans PLoS One (2016)

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

par Perrin, Aurélien, Metay, Corinne, Villanova, Marcello, Carlier, Robert‐Yves, Pegoraro, Elena, Juntas Morales, Raul, Stojkovic, Tanya, Richard, Isabelle, Richard, Pascale, Romero, Norma B., Granzier, Henk, Koenig, Michel, Malfatti, Edoardo, Cossée, Mireille
Publié dans Ann Clin Transl Neurol (2020)

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

par Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R., Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, D'Ambrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena
Publié dans Neurology (2015)

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

par Jacquier, Arnaud, Delorme, Cécile, Belotti, Edwige, Juntas-Morales, Raoul, Solé, Guilhem, Dubourg, Odile, Giroux, Marianne, Maurage, Claude-Alain, Castellani, Valérie, Rebelo, Adriana, Abrams, Alexander, Züchner, Stephan, Stojkovic, Tanya, Schaeffer, Laurent, Latour, Philippe
Publié dans Acta Neuropathol Commun (2017)

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

par Fayssoil, Abdallah, Behin, Anthony, Ogna, Adam, Mompoint, Dominique, Amthor, Helge, Clair, Bernard, Laforet, Pascal, Mansart, Arnaud, Prigent, Helene, Orlikowski, David, Stojkovic, Tanya, Vinit, Stéphane, Carlier, Robert, Eymard, Bruno, Lofaso, Frederic, Annane, Djillali
Publié dans J Neuromuscul Dis (2018)

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...

par 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
Publié dans PLoS One (2016)

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

par Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie
Publié dans BMJ Open (2018)

Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders

par 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
Publié dans PLoS One (2019)

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

par Mariot, Virginie, Joubert, Romain, Hourdé, Christophe, Féasson, Léonard, Hanna, Michael, Muntoni, Francesco, Maisonobe, Thierry, Servais, Laurent, Bogni, Caroline, Le Panse, Rozen, Benvensite, Olivier, Stojkovic, Tanya, Machado, Pedro M., Voit, Thomas, Buj-Bello, Ana, Dumonceaux, Julie
Publié dans Nat Commun (2017)

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

par 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
Publié dans JAMA Neurol (2018)

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

par Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, Stojkovic, Tanya
Publié dans Eur J Hum Genet (2019)