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Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndrome. [electronic resource] by
- Maury, Philippe
- Audoubert, Mathieu
- Cintas, Pascal
- Rollin, Anne
- Duparc, Alexandre
- Mondoly, Pierre
- Chiriac, Ana-Maria
- Acket, Blandine
- Zhao, Xinran
- Pasquié, Jean Luc
- Cardin, Christelle
- Delay, Marc
- Sadron, Marie
- Carrié, Didier
- Galinier, Michel
- Davy, Jean-Marc
- Arne-Bès, Marie-Christine
- Raczka, Franck
Producer: 20150602
In:
Heart rhythm vol. 11
Availability: No items available.
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7.
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Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. [electronic resource] by
- Calvo, Judith
- Funalot, Benoît
- Ouvrier, Robert A
- Lazaro, Leila
- Toutain, Annick
- De Mas, Philippe
- Bouche, Pierre
- Gilbert-Dussardier, Brigitte
- Arne-Bes, Marie-Christine
- Carrière, Jean-Pierre
- Journel, Hubert
- Minot-Myhie, Marie-Christine
- Guillou, Claire
- Ghorab, Karima
- Magy, Laurent
- Sturtz, Franck
- Vallat, Jean-Michel
- Magdelaine, Corinne
Producer: 20100112
In:
Archives of neurology vol. 66
Availability: No items available.
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8.
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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. [electronic resource] 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
- Levy, Nicolas
- Pouget, Jean
- Attarian, Shahram
Producer: 20160121
In:
Orphanet journal of rare diseases vol. 10
Availability: No items available.
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Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing. [electronic resource] by
- Nectoux, Juliette
- de Cid, Rafael
- Baulande, Sylvain
- Leturcq, France
- Urtizberea, Jon Andoni
- Penisson-Besnier, Isabelle
- Nadaj-Pakleza, Aleksandra
- Roudaut, Carinne
- Criqui, Audrey
- Orhant, Lucie
- Peyroulan, Delphine
- Ben Yaou, Raba
- Nelson, Isabelle
- Cobo, Anna Maria
- Arné-Bes, Marie-Christine
- Uro-Coste, Emmanuelle
- Nitschke, Patrick
- Claustres, Mireille
- Bonne, Gisèle
- Lévy, Nicolas
- Chelly, Jamel
- Richard, Isabelle
- Cossée, Mireille
Producer: 20160401
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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10.
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A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. [electronic resource] by
- Zenagui, Reda
- Lacourt, Delphine
- Pegeot, Henri
- Yauy, Kevin
- Juntas Morales, Raul
- Theze, Corine
- Rivier, François
- Cances, Claude
- Sole, Guilhem
- Renard, Dimitri
- Walther-Louvier, Ulrike
- Ferrer-Monasterio, Xavier
- Espil, Caroline
- Arné-Bes, Marie-Christine
- Cintas, Pascal
- Uro-Coste, Emmanuelle
- Martin Negrier, Marie-Laure
- Rigau, Valérie
- Bieth, Eric
- Goizet, Cyril
- Claustres, Mireille
- Koenig, Michel
- Cossée, Mireille
Producer: 20190911
In:
The Journal of molecular diagnostics : JMD vol. 20
Availability: No items available.
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11.
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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. [electronic resource] by
- Chauveau, Claire
- Bonnemann, Carsten G
- Julien, Cedric
- Kho, Ay Lin
- Marks, Harold
- Talim, Beril
- Maury, Philippe
- Arne-Bes, Marie Christine
- Uro-Coste, Emmanuelle
- Alexandrovich, Alexander
- Vihola, Anna
- Schafer, Sebastian
- Kaufmann, Beth
- Medne, Livija
- Hübner, Norbert
- Foley, A Reghan
- Santi, Mariarita
- Udd, Bjarne
- Topaloglu, Haluk
- Moore, Steven A
- Gotthardt, Michael
- Samuels, Mark E
- Gautel, Mathias
- Ferreiro, Ana
Producer: 20140909
In:
Human molecular genetics vol. 23
Availability: No items available.
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12.
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Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. [electronic resource] by
- Lerat, Justine
- Magdelaine, Corinne
- Roux, Anne-Françoise
- Darnaud, Léa
- Beauvais-Dzugan, Hélène
- Naud, Steven
- Richard, Laurence
- Derouault, Paco
- Ghorab, Karima
- Magy, Laurent
- Vallat, Jean-Michel
- Cintas, Pascal
- Bieth, Eric
- Arne-Bes, Marie-Christine
- Goizet, Cyril
- Espil-Taris, Caroline
- Journel, Hubert
- Toutain, Annick
- Urtizberea, Jon Andoni
- Boespflug-Tanguy, Odile
- Laffargue, Fanny
- Corcia, Philippe
- Pasquier, Laurent
- Fradin, Mélanie
- Napuri, Sylva
- Ciron, Jonathan
- Boulesteix, Jean-Marc
- Sturtz, Franck
- Lia, Anne-Sophie
Producer: 20200619
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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13.
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. [electronic resource] by
- Dogan, Celine
- De Antonio, Marie
- Hamroun, Dalil
- Varet, Hugo
- Fabbro, Marianne
- Rougier, Felix
- Amarof, Khadija
- Arne Bes, Marie-Christine
- Bedat-Millet, Anne-Laure
- Behin, Anthony
- Bellance, Remi
- Bouhour, Françoise
- Boutte, Celia
- Boyer, François
- Campana-Salort, Emmanuelle
- Chapon, Françoise
- Cintas, Pascal
- Desnuelle, Claude
- Deschamps, Romain
- Drouin-Garraud, Valerie
- Ferrer, Xavier
- Gervais-Bernard, Helene
- Ghorab, Karima
- Laforet, Pascal
- Magot, Armelle
- Magy, Laurent
- Menard, Dominique
- Minot, Marie-Christine
- Nadaj-Pakleza, Aleksandra
- Pellieux, Sybille
- Pereon, Yann
- Preudhomme, Marguerite
- Pouget, Jean
- Sacconi, Sabrina
- Sole, Guilhem
- Stojkovich, Tanya
- Tiffreau, Vincent
- Urtizberea, Andoni
- Vial, Christophe
- Zagnoli, Fabien
- Caranhac, Gilbert
- Bourlier, Claude
- Riviere, Gerard
- Geille, Alain
- Gherardi, Romain K
- Eymard, Bruno
- Puymirat, Jack
- Katsahian, Sandrine
- Bassez, Guillaume
Producer: 20160711
In:
PloS one vol. 11
Availability: No items available.
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