Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

被引：18
|
作者：
Sevy, Amandine [1 ]
Cerino, Mathieu [2 ,3 ]
Gorokhova, Svetlana [2 ]
Dionnet, Eugenie [2 ]
Mathieu, Yves [2 ]
Verschueren, Annie [1 ]
Franques, Jerome [1 ]
de Paula, Andre Maues [2 ,4 ]
Figarella-Branger, Dominique [4 ]
Lagarde, Arnaud [2 ]
Desvignes, Jean Pierre [2 ]
Beroud, Christophe [2 ,3 ]
Attarian, Shahram [1 ,2 ]
Levy, Nicolas [2 ,3 ]
Bartoli, Marc [2 ,3 ]
Krahn, Martin [2 ,3 ]
Campana-Salort, Emmanuelle [1 ,2 ]
Pouget, Jean [1 ,2 ]
机构：
[1] Hop Enfants La Timone, APHM, Neuromuscular & ALS Reference Ctr, Dept Neurol, Marseille, France
[2] Aix Marseille Univ, INSERM, GMGF, Marseille, France
[3] Hop Enfants La Timone, APHM, Dept Genet Med, Marseille, France
[4] La Timone Univ Hosp, APHM, Dept Anatomopathol, Marseille, France
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2016年 / 87卷 / 03期
关键词：
D O I：
10.1136/jnnp-2014-309663
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：340 / U116
页数：3
相关论文
共 50 条
  • [31] A targeted next-generation sequencing panel outcomes for the molecular diagnosis of Ectodermal Dysplasia in Spanish population
    Martinez-Romero, M.
    Ballesta Martinez, Maria Juliana
    Teresa Serrano-Anton, Ana
    Sanchez Soler, Maria Jose
    Rodriguez-Pena, Lidia
    Lopez Gonzalez, Vanesa
    Barreda-Sanchez, Maria
    Elena Perez-Tomas, Maria
    Dominguez Jimenez, Marta
    Martinez-Menchon, Teresa
    Carbonell Meseguer, Pablo
    Guillen-Navarro, Encarna
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 144 - 144
  • [32] Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
    Rimbert, Antoine
    Pichelin, Matthieu
    Lecointe, Simon
    Marrec, Marie
    Le Scouarnec, Solena
    Barrak, Elias
    Croyal, Mikael
    Krempf, Michel
    Le Marec, Herve
    Redon, Richard
    Schott, Jean-Jacques
    Magre, Jocelyne
    Cariou, Bertrand
    [J]. ATHEROSCLEROSIS, 2016, 250 : 52 - 56
  • [33] Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing
    Taillandier, Agnes
    Domingues, Christelle
    De Cazanove, Clemence
    Porquet-Bordes, Valerie
    Monnot, Sophie
    Kiffer-Moreira, Tina
    Rothenbuhler, Agnes
    Guggenbuhl, Pascal
    Cormier, Catherine
    Baujat, Genevieve
    Debiais, Francoise
    Capri, Yline
    Cohen-Solal, Martine
    Parent, Philippe
    Chiesa, Jean
    Dieux, Anne
    Petit, Florence
    Roume, Joelle
    Isnard, Monica
    Cormier-Daire, Valerie
    Linglart, Agnes
    Millan, Jose Luis
    Salles, Jean-Pierre
    Muti, Christine
    Simon-Bouy, Brigitte
    Mornet, Etienne
    [J]. MOLECULAR GENETICS AND METABOLISM, 2015, 116 (03) : 215 - 220
  • [34] Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets
    Turan, Ihsan
    Erdem, Sevcan
    Kotan, Leman Damla
    Dilek, Semine Ozdemir
    Tastan, Mehmet
    Gurbuz, Fatih
    Bisgin, Atil
    Bayazit, Aysun Karabay
    Topaloglu, Ali Kemal
    Yuksel, Bilgin
    [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 34 (05): : 639 - 648
  • [35] Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases
    Liu, Yanqiu
    Wei, Xiaoming
    Kong, Xiangdong
    Guo, Xueqin
    Sun, Yan
    Man, Jianfen
    Du, Lique
    Zhu, Hui
    Qu, Zelan
    Tian, Ping
    Mao, Bing
    Yang, Yun
    [J]. PLOS ONE, 2015, 10 (08):
  • [36] Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies
    Kojima, Daiei
    Wang, Xinan
    Muramatsu, Hideki
    Okuno, Yusuke
    Nishio, Nobuhiro
    Hama, Asahito
    Tsuge, Ikuya
    Takahashi, Yoshiyuki
    Kojima, Seiji
    [J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2016, 138 (01) : 303 - 305
  • [37] A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
    Martin Krahn
    Valérie Biancalana
    Mathieu Cerino
    Aurélien Perrin
    Laurence Michel-Calemard
    Juliette Nectoux
    France Leturcq
    Céline Bouchet-Séraphin
    Cécile Acquaviva-Bourdain
    Emmanuelle Campana-Salort
    Annamaria Molon
    Jon Andoni Urtizberea
    Frédérique Audic
    Brigitte Chabrol
    Jean Pouget
    Roseline Froissart
    Judith Melki
    John Rendu
    François Petit
    Corinne Métay
    Nathalie Seta
    Damien Sternberg
    Julien Fauré
    Mireille Cossée
    [J]. European Journal of Human Genetics, 2019, 27 : 349 - 352
  • [38] A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
    Krahn, Martin
    Biancalana, Valerie
    Cerino, Mathieu
    Perrin, Aurelien
    Michel-Calemard, Laurence
    Nectoux, Juliette
    Leturcq, France
    Bouchet-Seraphin, Celine
    Acquaviva-Bourdain, Cecile
    Campana-Salort, Emmanuelle
    Molon, Annamaria
    Urtizberea, Jon Andoni
    Audic, Frederique
    Chabrol, Brigitte
    Pouget, Jean
    Froissart, Roseline
    Melki, Judith
    Rendu, John
    Petit, Francois
    Metay, Corinne
    Seta, Nathalie
    Sternberg, Damien
    Faure, Julien
    Cossee, Mireille
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (03) : 349 - 352
  • [39] Targeted next generation sequencing for molecular diagnosis of Usher syndrome
    Aparisi, Maria J.
    Aller, Elena
    Fuster-Garcia, Carla
    Garcia-Garcia, Gema
    Rodrigo, Regina
    Vazquez-Manrique, Rafael P.
    Blanco-Kelly, Fiona
    Ayuso, Carmen
    Roux, Anne-Francoise
    Jaijo, Teresa
    Millan, Jose M.
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
  • [40] Targeted next generation sequencing for molecular diagnosis of Usher syndrome
    María J Aparisi
    Elena Aller
    Carla Fuster-García
    Gema García-García
    Regina Rodrigo
    Rafael P Vázquez-Manrique
    Fiona Blanco-Kelly
    Carmen Ayuso
    Anne-Françoise Roux
    Teresa Jaijo
    José M Millán
    [J]. Orphanet Journal of Rare Diseases, 9
12345