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Cerebral Iron Accumulation Is Not a Major Feature of FA2H/ SPG35.
Published in:
Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 56, doi. 10.1002/mdc3.12118
By:
- Marelli, Cecilia;
- Salih, Mustafa A.;
- Nguyen, Karine;
- Mallaret, Martial;
- Leboucq, Nicolas;
- Hassan, Hamdy H.;
- Drouot, Nathalie;
- Labauge, Pierre;
- Koenig, Michel
Publication type:
Article
Hypokalaemia and dysmorphia, is there a link?
Published in:
NDT Plus, 2009, v. 2, n. 3, p. 222, doi. 10.1093/ndtplus/sfp009
By:
- Burtey, Stéphane;
- Sternberg, Damien;
- Nguyen, Karine;
- Philip, Nicole;
- Berland, Yvon;
- Dussol, Bertrand
Publication type:
Article
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0218-1
By:
- Salort-Campana, Emmanuelle;
- Nguyen, Karine;
- Bernard, Rafaelle;
- Jouve, Elisabeth;
- Solé, Guilhem;
- Nadaj-Pakleza, Aleksandra;
- Niederhauser, Julien;
- Charles, Estelle;
- Ollagnon, Elisabeth;
- Bouhour, Françoise;
- Sacconi, Sabrina;
- Echaniz-Laguna, Andoni;
- Desnuelle, Claude;
- Tranchant, Christine;
- Vial, Christophe;
- Magdinier, Frederique;
- Bartoli, Marc;
- Arne-Bes, Marie-Christine;
- Ferrer, Xavier;
- Kuntzer, Thierry
Publication type:
Article
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 22, doi. 10.1186/s13023-014-0218-1
By:
- Salort-Campana, Emmanuelle;
- Nguyen, Karine;
- Bernard, Rafaelle;
- Jouve, Elisabeth;
- Solé, Guilhem;
- Nadaj-Pakleza, Aleksandra;
- Niederhauser, Julien;
- Charles, Estelle;
- Ollagnon, Elisabeth;
- Bouhour, Françoise;
- Sacconi, Sabrina;
- Echaniz-Laguna, Andoni;
- Desnuelle, Claude;
- Tranchant, Christine;
- Vial, Christophe;
- Magdinier, Frederique;
- Bartoli, Marc;
- Arne-Bes, Marie-Christine;
- Ferrer, Xavier;
- Kuntzer, Thierry
Publication type:
Article
SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14447, doi. 10.3390/ijms232214447
By:
- Jaouadi, Hager;
- Théron, Alexis;
- Hourdain, Jérôme;
- Martel, Hélène;
- Nguyen, Karine;
- Habachi, Raja;
- Deharo, Jean-Claude;
- Collart, Frédéric;
- Avierinos, Jean-François;
- Zaffran, Stéphane
Publication type:
Article
Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2221, doi. 10.3390/ijms21062221
By:
- Salort-Campana, Emmanuelle;
- Fatehi, Farzad;
- Beloribi-Djefaflia, Sadia;
- Roche, Stéphane;
- Nguyen, Karine;
- Bernard, Rafaelle;
- Cintas, Pascal;
- Solé, Guilhem;
- Bouhour, Françoise;
- Ollagnon, Elisabeth;
- Sacconi, Sabrina;
- Echaniz-Laguna, Andoni;
- Kuntzer, Thierry;
- Levy, Nicolas;
- Magdinier, Frédérique;
- Attarian, Shahram
Publication type:
Article
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1365, doi. 10.3390/jcm9051365
By:
- Bordet, Céline;
- Brice, Sandrine;
- Maupain, Carole;
- Gandjbakhch, Estelle;
- Isidor, Bertrand;
- Palmyre, Aurélien;
- Moerman, Alexandre;
- Toutain, Annick;
- Akloul, Linda;
- Brehin, Anne-Claire;
- Sawka, Caroline;
- Rooryck, Caroline;
- Schaefer, Elise;
- Nguyen, Karine;
- Dupin Deguine, Delphine;
- Rouzier, Cécile;
- Billy, Gipsy;
- Séné, Krystelle;
- Denjoy, Isabelle;
- Leheup, Bruno
Publication type:
Article
Dystrophie musculaire facio-scapulo-humérale: Vers un diagnostic moléculaire étendu à la FSHD2.
Published in:
Médecine Sciences, 2022, v. 38, p. 52, doi. 10.1051/medsci/2022184
By:
- Magdinier, Frédérique;
- Ganne, Benjamin;
- Delourme, Mégane;
- Nguyen, Karine;
- Bernard, Rafaëlle
Publication type:
Article
Le colloque annuel de la FSHD Society s'invite à Marseille.
Published in:
Médecine Sciences, 2019, v. 35, p. 55, doi. 10.1051/medsci/2019184
By:
- Magdinier, Frédérique;
- Nguyen, Karine;
- Attarian, Shahram
Publication type:
Article
Le colloque annuel de la FSHD Society s’invite à Marseille.
Published in:
Médecine Sciences, 2019, v. 35, p. 55, doi. 10.1051/medsci/2019184
By:
- Magdinier, Frédérique;
- Nguyen, Karine;
- Attarian, Shahram
Publication type:
Article
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo- Humeral Dystrophy: a case report.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0328-9
By:
- Gaillard, Marie-Cécile;
- Puppo, Francesca;
- Roche, Stéphane;
- Dion, Camille;
- Campana, Emmanuelle Salort;
- Mariot, Virginie;
- Chaix, Charlene;
- Vovan, Catherine;
- Mazaleyrat, Killian;
- Tasmadjian, Armand;
- Bernard, Rafaelle;
- Dumonceaux, Julie;
- Attarian, Shahram;
- Lévy, Nicolas;
- Nguyen, Karine;
- Magdinier, Frédérique;
- Bartoli, Marc
Publication type:
Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
By:
- Barat-Houari, Mouna;
- Nguyen, Karine;
- Bernard, Rafaëlle;
- Fernandez, Céline;
- Vovan, Catherine;
- Bareil, Corinne;
- Van Kien, Philippe Khau;
- Thorel, Delphine;
- Tuffery-Giraud, Sylvie;
- Vasseur, Francis;
- Attarian, Shahram;
- Pouget, Jean;
- Girardet, Anne;
- Lévy, Nicolas;
- Claustres, Mireille
Publication type:
Article
Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46861-x
By:
- Gaillard, Marie-Cécile;
- Broucqsault, Natacha;
- Morere, Julia;
- Laberthonnière, Camille;
- Dion, Camille;
- Badja, Cherif;
- Roche, Stéphane;
- Nguyen, Karine;
- Magdinier, Frédérique;
- Robin, Jérôme D.
Publication type:
Article
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Published in:
Netherlands Heart Journal, 2023, v. 31, n. 7/8, p. 300, doi. 10.1007/s12471-023-01798-9
By:
- Marsili, Luisa;
- van Lint, Freyja H. M.;
- Russo, Francesco;
- van Spaendonck-Zwarts, Karin Y.;
- Ader, Flavie;
- Bichon, Marie-Line;
- Faivre, Laurence;
- Houweling, Arjan C.;
- Isidor, Bertrand;
- Lekanne Deprez, Ronald H.;
- Cox, Moniek G. P. J.;
- Wilde, Arthur A. M.;
- Mazel, Benoit;
- Mercier, Sandra;
- Dooijes, Dennis;
- Millat, Gilles;
- Nguyen, Karine;
- Post, Jan G.;
- Richard, Pascale;
- van de Beek, Irma
Publication type:
Article
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1753
By:
- Clot, Fabienne;
- Grabli, David;
- Cazeneuve, CÃ©cile;
- Roze, Emmanuel;
- Castelnau, Pierre;
- Chabrol, Brigitte;
- Landrieu, Pierre;
- Nguyen, Karine;
- Ponsot, GÃ©rard;
- Abada, Myriem;
- Doummar, Diane;
- Damier, Philippe;
- Gil, Roger;
- Thobois, StÃ©phane;
- Ward, Alana J.;
- Hutchinson, Michael;
- Toutain, Annick;
- Picard, Fabienne;
- Camuzat, AgnÃ¨s;
- Fedirko, Estelle
Publication type:
Article
Facioscapulohumeral Muscular Dystrophy—a Tale of Heterogeneity and the Power of Clinical Assessments.
Published in:
2020
By:
- Nguyen, Karine;
- Robin, Jérôme D.
Publication type:
Opinion
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Published in:
Clinical Genetics, 2022, v. 101, n. 4, p. 390, doi. 10.1111/cge.14102
By:
- Germain, Dominique P.;
- Levade, Thierry;
- Hachulla, Eric;
- Knebelmann, Bertrand;
- Lacombe, Didier;
- Seguin, Vanessa Leguy;
- Nguyen, Karine;
- Noël, Esther;
- Rabès, Jean‐Pierre
Publication type:
Article
Featured Cover.
Published in:
Clinical Genetics, 2022, v. 101, n. 4, p. 1, doi. 10.1111/cge.14091
By:
- Germain, Dominique P.;
- Levade, Thierry;
- Hachulla, Eric;
- Knebelmann, Bertrand;
- Lacombe, Didier;
- Seguin, Vanessa Leguy;
- Nguyen, Karine;
- Noël, Esther;
- Rabès, Jean‐Pierre
Publication type:
Article
Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity.
Published in:
Clinical Genetics, 2019, v. 95, n. 3, p. 356, doi. 10.1111/cge.13484
By:
- Ader, Flavie;
- Aoutil, Nadia;
- Richard, Pascale;
- Casalta, Anne‐Claire;
- Michel, Nicolas;
- Haentjens, Julie;
- Lavoute, Cecile;
- Habib, Gilbert;
- Faivre, Laurence;
- Nguyen, Karine;
- Roux, Maguelonne;
- Tregouët, David‐Alexandre;
- Charron, Philippe;
- Donal, Erwan;
- Eicher, Jean‐Christophe;
- Huttin, Olivier;
- Selton‐Suty, Christine;
- Coisne, Damien;
- Jondeau, Guillaume;
- Damy, Thibaud
Publication type:
Article
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Published in:
Molecular Diagnosis & Therapy, 2022, v. 26, n. 5, p. 551, doi. 10.1007/s40291-022-00604-3
By:
- Janin, Alexandre;
- Perouse de Montclos, Thomas;
- Nguyen, Karine;
- Consolino, Emilie;
- Nadeau, Gwenael;
- Rey, Gaelle;
- Bouchot, Océane;
- Blanchet, Patricia;
- Sabbagh, Quentin;
- Cazeneuve, Cécile;
- El-Malti, Rajae;
- Morel, Elodie;
- Delinière, Antoine;
- Chevalier, Philippe;
- Millat, Gilles
Publication type:
Article
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
Published in:
Journal of Neurology, 2024, v. 271, n. 9, p. 5778, doi. 10.1007/s00415-024-12538-3
By:
- Attarian, Shahram;
- Beloribi-Djefaflia, Sadia;
- Bernard, Rafaelle;
- Nguyen, Karine;
- Cances, Claude;
- Gavazza, Carole;
- Echaniz-Laguna, Andoni;
- Espil, Caroline;
- Evangelista, Teresinha;
- Feasson, Léonard;
- Audic, Frédérique;
- Zagorda, Berenice;
- Milhe De Bovis, Virginie;
- Stojkovic, Tanya;
- Sole, Guilhem;
- Salort-Campana, Emmanuelle;
- Sacconi, Sabrina
Publication type:
Article
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 20, p. 4206, doi. 10.1093/hmg/ddt272
By:
- Broucqsault, Natacha;
- Morere, Julia;
- Gaillard, Marie-Cécile;
- Dumonceaux, Julie;
- Torrents, Julia;
- Salort-Campana, Emmanuelle;
- Maues De Paula, André;
- Bartoli, Marc;
- Fernandez, Carla;
- Chesnais, Anne Laure;
- Ferreboeuf, Maxime;
- Sarda, Laure;
- Dufour, Henry;
- Desnuelle, Claude;
- Attarian, Shahram;
- Levy, Nicolas;
- Nguyen, Karine;
- Magdinier, Frédérique;
- Roche, Stéphane
Publication type:
Article
A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy.
Published in:
Science Translational Medicine, 2010, v. 2, n. 50, p. 1, doi. 10.1126/scitranslmed.3000951
By:
- Krahn, Martin;
- Wein, Nicolas;
- Bartoli, Marc;
- Lostal, William;
- Courrier, Sébastien;
- Bourg-Alibert, Nathalie;
- Nguyen, Karine;
- Vial, Christophe;
- Streichenberger, Nathalie;
- Labelle, Véronique;
- DePetris, Danielle;
- Pécheux, Christophe;
- Leturcq, France;
- Cau, Pierre;
- Richard, Isabelle;
- Lévy, Nicolas
Publication type:
Article
Dysferlinopathies.
Published in:
Neurology India, 2008, v. 56, n. 3, p. 289, doi. 10.4103/0028-3886.43447
By:
- Andoni, Urtizberea J.;
- Guillaume, Bassez;
- France, Leturcq;
- Karine, Nguyen;
- Martin, Krahn;
- Nicolas, Lévy
Publication type:
Article
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome.
Published in:
Biomedicines, 2021, v. 9, n. 7, p. 751, doi. 10.3390/biomedicines9070751
By:
- Laberthonnière, Camille;
- Novoa-del-Toro, Elva Maria;
- Chevalier, Raphaël;
- Broucqsault, Natacha;
- Rao, Vanitha Venkoba;
- Trani, Jean Philippe;
- Nguyen, Karine;
- Xue, Shifeng;
- Reversade, Bruno;
- Robin, Jérôme D.;
- Baudot, Anais;
- Magdinier, Frédérique
Publication type:
Article
Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.
Published in:
Cells (2073-4409), 2020, v. 9, n. 6, p. 1531, doi. 10.3390/cells9061531
By:
- Mazaleyrat, Kilian;
- Badja, Cherif;
- Broucqsault, Natacha;
- Chevalier, Raphaël;
- Laberthonnière, Camille;
- Dion, Camille;
- Baldasseroni, Lyla;
- El-Yazidi, Claire;
- Thomas, Morgane;
- Bachelier, Richard;
- Altié, Alexandre;
- Nguyen, Karine;
- Lévy, Nicolas;
- Robin, Jérôme D.;
- Magdinier, Frédérique
Publication type:
Article
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Published in:
Nucleic Acids Research, 2023, v. 51, n. 14, p. 7269, doi. 10.1093/nar/gkad523
By:
- Laberthonnière, Camille;
- Delourme, Mégane;
- Chevalier, Raphaël;
- Dion, Camille;
- Ganne, Benjamin;
- Hirst, David;
- Caron, Leslie;
- Perrin, Pierre;
- Adélaïde, José;
- Chaffanet, Max;
- Xue, Shifeng;
- Nguyen, Karine;
- Reversade, Bruno;
- Déjardin, Jérôme;
- Baudot, Anaïs;
- Robin, Jérôme D;
- Magdinier, Frédérique
Publication type:
Article
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Published in:
Human Mutation, 2020, v. 41, n. 2, p. 465, doi. 10.1002/humu.23944
By:
- Janin, Alexandre;
- Chanavat, Valérie;
- Rollat‐Farnier, Pierre‐Antoine;
- Bardel, Claire;
- Nguyen, Karine;
- Chevalier, Philippe;
- Eicher, Jean‐Christophe;
- Faivre, Laurence;
- Piard, Juliette;
- Albert, Emma;
- Nony, Severine;
- Millat, Gilles
Publication type:
Article
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. 1432, doi. 10.1002/humu.23304
By:
- Nguyen, Karine;
- Puppo, Francesca;
- Roche, Stéphane;
- Gaillard, Marie‐Cécile;
- Chaix, Charlène;
- Lagarde, Arnaud;
- Pierret, Marjorie;
- Vovan, Catherine;
- Olschwang, Sylviane;
- Salort‐Campana, Emmanuelle;
- Attarian, Shahram;
- Bartoli, Marc;
- Bernard, Rafaëlle;
- Magdinier, Frédérique;
- Levy, Nicolas
Publication type:
Article
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
Published in:
Human Mutation, 2012, v. 33, n. 3, p. E2317, doi. 10.1002/humu.22015
By:
- Blandin, Gaelle;
- Beroud, Christophe;
- Labelle, Veronique;
- Nguyen, Karine;
- Wein, Nicolas;
- Hamroun, Dalil;
- Williams, Brad;
- Monnier, Nilah;
- Rufibach, Laura E.;
- Urtizberea, Jon Andoni;
- Cau, Pierre;
- Bartoli, Marc;
- Lévy, Nicolas;
- Krahn, Martin
Publication type:
Article
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Published in:
Human Mutation, 2009, v. 30, n. 2, p. E345, doi. 10.1002/humu.20910
By:
- Krahn, Martin;
- Béroud, Christophe;
- Labelle, Véronique;
- Nguyen, Karine;
- Bernard, Rafaëlle;
- Bassez, Guillaume;
- Figarella-Branger, Dominique;
- Fernandez, Carla;
- Bouvenot, Julien;
- Richard, Isabelle;
- Ollagnon-Roman, Elisabeth;
- Bevilacqua, Jorge A.;
- Salvo, Eric;
- Attarian, Shahram;
- Chapon, Françoise;
- Pellissier, Jean-François;
- Pouget, Jean;
- Hammouda, El Hadi;
- Laforêt, Pascal;
- Urtizberea, Jon Andoni
Publication type:
Article
Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Published in:
Human Mutation, 2005, v. 26, n. 6, p. 592, doi. 10.1002/humu.9388
By:
- Nguyen, Karine;
- Bassez, Guillaume;
- Bernard, Rafaëlle;
- Krahn, Martin;
- Labelle, Véronique;
- Figarella-Branger, Dominique;
- Pouget, Jean;
- Hammouda, El Hadi;
- Béroud, Christophe;
- Urtizberea, Andoni;
- Eymard, Bruno;
- Leturcq, France;
- Lévy, Nicolas
Publication type:
Article
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Published in:
Human Mutation, 2005, v. 26, n. 2, p. 165, doi. 10.1002/humu.9355
By:
- Nguyen, Karine;
- Bassez, Guillaume;
- Bernard, Rafaëlle;
- Krahn, Martin;
- Labelle, Véronique;
- Figarella-Branger, Dominique;
- Pouget, Jean;
- Hammouda, El Hadi;
- Béroud, Christophe;
- Urtizberea, Andoni;
- Eymard, Bruno;
- Leturcq, France;
- Lévy, Nicolas
Publication type:
Article
Hypokalaemia and dysmorphia, is there a link?
Published in:
2009
By:
- Burtey, Stéphane;
- Sternberg, Damien;
- Nguyen, Karine;
- Philip, Nicole;
- Berland, Yvon;
- Dussol, Bertrand
Publication type:
Case Study
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1242277
By:
- Morel, Victor;
- Audic, Frédérique;
- Tardy, Charlotte;
- Verschueren, Annie;
- Attarian, Shahram;
- Nguyen, Karine;
- Salort-Campana, Emmanuelle;
- Krahn, Martin;
- Chabrol, Brigitte;
- Gorokhova, Svetlana
Publication type:
Article
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres.
Published in:
Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 1, p. 621, doi. 10.1002/jcsm.12835
By:
- Laberthonnière, Camille;
- Novoa‐del‐Toro, Elva‐Maria;
- Delourme, Mégane;
- Chevalier, Raphaël;
- Broucqsault, Natacha;
- Mazaleyrat, Kilian;
- Streichenberger, Nathalie;
- Manel, Véronique;
- Bernard, Rafaëlle;
- Salort Campana, Emmanuelle;
- Attarian, Shahram;
- Nguyen, Karine;
- Robin, Jérôme D.;
- Baudot, Anais;
- Magdinier, Frédérique
Publication type:
Article

Found: 36