Friedreich ataxia: a paradigm for mitochondrial diseases von Puccio, Hélène, Kœnig, Michel

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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation von COSSEE, M, PUCCIO, H, GANSMULLER, A, KOUTNIKOVA, H, DIERICH, A, LEMEUR, M, FISCHBECK, K, DOLLE, P, KOENIG, M

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Recent advances in the molecular pathogenesis of Friedreich ataxia von PUCCIO, H, KOENIG, M

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Calculating the temperature of strongly radiative shocks von Mabey, Paul, Michel, Thibault, Albertazzi, Bruno, Falize, Emeric, Charpentier, Nicolas, Koenig, Michel

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Laser astrophysics experiment on the amplification of magnetic fields by shock-induced interfacial instabilities von Sano, Takayoshi, Tamatani, Shohei, Matsuo, Kazuki, Law, King Fai Farley, Morita, Taichi, Egashira, Shunsuke, Ota, Masato, Kumar, Rajesh, Shimogawara, Hiroshi, Hara, Yukiko, Lee, Seungho, Sakata, Shohei, Rigon, Gabriel, Michel, Thibault, Mabey, Paul, Albertazzi, Bruno, Koenig, Michel, Casner, Alexis, Shigemori, Keisuke, Fujioka, Shinsuke, Murakami, Masakatsu, Sakawa, Youichi

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism von Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

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Dynamic X-ray diffraction observation of shocked solid iron up to 170 GPa von Denoeud, Adrien, Ozaki, Norimasa, Benuzzi-Mounaix, Alessandra, Uranishi, Hiroyuki, Kondo, Yoshihiko, Kodama, Ryosuke, Brambrink, Erik, Ravasio, Alessandra, Bocoum, Maimouna, Boudenne, Jean-Michel, Harmand, Marion, Guyot, François, Mazevet, Stephane, Riley, David, Makita, Mikako, Sano, Takayoshi, Sakawa, Youichi, Inubushi, Yuichi, Gregori, Gianluca, Koenig, Michel, Morard, Guillaume

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Developed turbulence and nonlinear amplification of magnetic fields in laboratory and astrophysical plasmas von Meinecke, Jena, Petros Tzeferacos, Anthony Bell, Robert Bingham, Robert Clarke, Eugene Churazov, Robert Crowston, Hugo Doyle, R. Paul Drake, Robert Heathcote, Michel Koenig, Yasuhiro Kuramitsu, Carolyn Kuranz, Dongwook Lee, Michael MacDonald, Christopher Murphy, Margaret Notley, Hye-Sook Park, Alexander Pelka, Alessandra Ravasio, Brian Reville, Youichi Sakawa, Willow Wan, Nigel Woolsey, Roman Yurchak, Francesco Miniati, Alexander Schekochihin, Don Lamb, Gianluca Gregori

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Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia von Renaud, Mathilde, Guissart, Claire, Mallaret, Martial, Ferdinandusse, Sacha, Cheillan, David, Drouot, Nathalie, Muller, Jean, Claustres, Mireille, Tranchant, Christine, Anheim, Mathieu, Koenig, Michel

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Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation von Chamard, Ludivine, Sylvestre, Géraldine, Koenig, Michel, Magnin, Eloi

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Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC von Tingaud-Sequeira, Angèle, Raldúa, Demetrio, Lavie, Julie, Mathieu, Guilaine, Bordier, Magali, Knoll-Gellida, Anja, Rambeau, Pierre, Coupry, Isabelle, André, Michèle, Malm, Eva, Möller, Claes, Andreasson, Sten, Rendtorff, Nanna D, Tranebjærg, Lisbeth, Koenig, Michel, Lacombe, Didier, Goizet, Cyril, Babin, Patrick J

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Primitive Dark-Phase Cycle of Photosynthesis at the Origin of Life von Koenig, Michel

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Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle von Bougé, Anne-Laure, Murauer, Eva, Beyne, Emmanuelle, Miro, Julie, Varilh, Jessica, Taulan, Magali, Koenig, Michel, Claustres, Mireille, Tuffery-Giraud, Sylvie

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Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patient... von Braida, Claudia, Stefanatos, Rhoda K.A., Adam, Berit, Mahajan, Navdeep, Smeets, Hubert J.M., Niel, Florence, Goizet, Cyril, Arveiler, Benoit, Koenig, Michel, Lagier-Tourenne, Clotilde, Mandel, Jean-Louis, Faber, Catharina G., de Die-Smulders, Christine E.M., Spaans, Frank, Monckton, Darren G.

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Demonstrating grating-based phase-contrast imaging of laser-driven shock waves von Wegert, Leonard, Schreiner, Stephan, Rauch, Constantin, Albertazzi, Bruno, Bleuel, Paulina, Fröjdh, Eric, Koenig, Michel, Ludwig, Veronika, Martynenko, Artem S., Meyer, Pascal, Mozzanica, Aldo, Müller, Michael, Neumayer, Paul, Schneider, Markus, Triantafyllidis, Angelos, Zielbauer, Bernhard, Anton, Gisela, Michel, Thilo, Funk, Stefan

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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations von Salih, Mustafa A, Mundwiller, Emeline, Khan, Arif O, AlDrees, Abdulmajeed, Elmalik, Salah A, Hassan, Hamdy H, Al-Owain, Mohammed, Alkhalidi, Hisham M S, Katona, Istvan, Kabiraj, Mohammad M, Chrast, Roman, Kentab, Amal Y, Alzaidan, Hamad, Rodenburg, Richard J, Bosley, Thomas M, Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid

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A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1 von Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise

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Direct imaging of shock wave splitting in diamond at Mbar pressure von Makarov, Sergey, Dyachkov, Sergey, Pikuz, Tatiana, Katagiri, Kento, Nakamura, Hirotaka, Zhakhovsky, Vasily, Inogamov, Nail, Khokhlov, Victor, Martynenko, Artem, Albertazzi, Bruno, Rigon, Gabriel, Mabey, Paul, Hartley, Nicholas J., Inubushi, Yuichi, Miyanishi, Kohei, Sueda, Keiichi, Togashi, Tadashi, Yabashi, Makina, Yabuuchi, Toshinori, Okuchi, Takuo, Kodama, Ryosuke, Pikuz, Sergey, Koenig, Michel, Ozaki, Norimasa

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Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss von Mansard, Luke, Vaché, Christel, Bianchi, Julie, Baudoin, Corinne, Perthus, Isabelle, Isidor, Bertrand, Blanchet, Catherine, Baux, David, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin von Moreira, Maria-Céu, Barbot, Clara, Tachi, Nobutada, Kozuka, Naoki, Uchida, Eiji, Gibson, Toby, Mendonça, Pedro, Costa, Manuela, Barros, José, Yanagisawa, Takayuki, Watanabe, Mitsunori, Ikeda, Yoshio, Aoki, Masashi, Nagata, Tetsuya, Coutinho, Paula, Sequeiros, Jorge, Koenig, Michel

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