Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation von Drecourt, Anthony, Babdor, Joël, Dussiot, Michael, Petit, Floriane, Goudin, Nicolas, Garfa-Traoré, Meriem, Habarou, Florence, Bole-Feysot, Christine, Nitschké, Patrick, Ottolenghi, Chris, Metodiev, Metodi D., Serre, Valérie, Desguerre, Isabelle, Boddaert, Nathalie, Hermine, Olivier, Munnich, Arnold, Rötig, Agnès

Volltext

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency von Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.

Volltext

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients von Chaussenot, Annabelle, Le Ber, Isabelle, Ait-El-Mkadem, Samira, Camuzat, Agnès, de Septenville, Anne, Bannwarth, Sylvie, Genin, Emmanuelle C, Serre, Valérie, Augé, Gaëlle, Brice, Alexis, Pouget, Jean, Paquis-Flucklinger, Véronique

Volltext

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions von Rouzier, Cécile, Moore, David, Delorme, Cécile, Lacas-Gervais, Sandra, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Burté, Florence, Serre, Valérie, Bannwarth, Sylvie, Chaussenot, Annabelle, Catala, Martin, Yu-Wai-Man, Patrick, Paquis-Flucklinger, Véronique

Volltext

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion von Sarzi, Emmanuelle, Goffart, Steffi, Serre, Valérie, Chrétien, Dominique, Slama, Abdelhamid, Munnich, Arnold, Spelbrink, Johannes N., Rötig, Agnès

Volltext

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy von Galmiche, Louise, Serre, Valérie, Beinat, Marine, Assouline, Zahra, Lebre, Anne-Sophie, Chretien, Dominique, Nietschke, Patrick, Benes, Vladimir, Boddaert, Nathalie, Sidi, Daniel, Brunelle, Francis, Rio, Marlène, Munnich, Arnold, Rötig, Agnès

Volltext

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency von VEDRENNE, Vanessa, GOWHER, Ali, MUNNICH, Arnold, TARASSOV, Ivan, RÖTIG, Agnes, DE LONLAY, Pascale, NITSCHKE, Patrick, SERRE, Valérie, BODDAERT, Nathalie, ALTUZARRA, Cecilia, MAGER-HECKEL, Anne-Marie, CHRETIEN, Florence, ENTELIS, Nina

Volltext

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis von Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma

Volltext

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity von Thomas, Sophie, Cantagrel, Vincent, Mariani, Laura, Serre, Valérie, Lee, Ji-Eun, Elkhartoufi, Nadia, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Lyonnet, Stanislas, Vekemans, Michel, Lisgo, Steven N, Caspary, Tamara, Gleeson, Joseph, Attié-Bitach, Tania

Volltext

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement von BANNWARTH, Sylvie, AIT-EL-MKADEM, Samira, VERSCHUEREN, Annie, ROUZIER, Cecile, LE BER, Isabelle, AUGE, Gaëlle, COCHAUD, Charlotte, LESPINASSE, Françoise, N'GUYEN, Karine, DE SEPTENVILLE, Anne, BRICE, Alexis, YU-WAI-MAN, Patrick, CHAUSSENOT, Annabelle, SESAKI, Hiromi, POUGET, Jean, PAQUIS-FLUCKLINGER, Véronique, GENIN, Emmanuelle C, LACAS-GERVAIS, Sandra, FRAGAKI, Konstantina, BERG-ALONSO, Laetitia, KAGEYAMA, Yusuke, SERRE, Valérie, MOORE, David G

Volltext

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions von Rouzier, Cécile, Moore, David, Delorme, Cécile, Lacas-Gervais, Sandra, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Burté, Florence, Serre, Valérie, Bannwarth, Sylvie, Chaussenot, Annabelle, Catala, Martin, Yu-Wai-Man, Patrick, Paquis-Flucklinger, Véronique

Volltext

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs von Fragaki, Konstantina, Chaussenot, Annabelle, Serre, Valerie, Acquaviva, Cecile, Bannwarth, Sylvie, Rouzier, Cecile, Chabrol, Brigitte, Paquis-Flucklinger, Veronique

Volltext

NDUFS6 related Leigh syndrome: a case report and review of the literature von Rouzier, Cécile, Chaussenot, Annabelle, Fragaki, Konstantina, Serre, Valérie, Ait-El-Mkadem, Samira, Richelme, Christian, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie

Volltext

Mutation of RRM2B , encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion von de Lonlay, Pascale, Chrétien, Dominique, Serre, Valérie, Aubert, Sophie, Jais, Jean-Philippe, Arakawa, Hirofumi, Nakamura, Yusuke, Sarzi, Emmanuelle, Munnich, Arnold, Rötig, Agnès, Minai, Limor, Bourdon, Alice, Paquis-Flucklinger, Véronique

Volltext

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III von Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, Sznajer, Yves, Martinovic, Jelena, Smithson, Sarah, Huber, Céline, Baujat, Geneviève, Flori, Elisabeth, Tecco, Laura, Cavalcanti, Denise, Delezoide, Anne-Lise, Serre, Valérie, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

Volltext

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome von Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine, Simon, Marleen, Tolmie, John, Verloes, Alain, Casanova, Jean-Laurent, Munnich, Arnold, Cormier-Daire, Valérie

Volltext

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane von Hanein, Sylvain, Garcia, Mathilde, Fares-Taie, Lucas, Serre, Valérie, De Keyzer, Yves, Delaveau, Thierry, Perrault, Isabelle, Delphin, Nathalie, Gerber, Sylvie, Schmitt, Alain, Masse, Jean-Marc, Munnich, Arnold, Kaplan, Josseline, Devaux, Frédéric, Rozet, Jean-Michel

Volltext

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling von Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Céline, Kois, Chelsea, Baujat, Geneviève, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valérie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cécile, Nitschké, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valérie, Hofstra, R.M.W., Lyonnet, Stanislas, Tan, Tiong Yang, Attié-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, Thomas, Sophie

Volltext

A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia: e1004711 von Mamoune, Asmaa, Bahuau, Michel, Hamel, Yamina, Serre, Valérie, Pelosi, Michele, Habarou, Florence, Morel, Marie-Ange Nguyen, Boisson, Bertrand, Vergnaud, Sabrina, Viou, Mai Thao, Nonnenmacher, Luc, Piraud, Monique, Nusbaum, Patrick, Vamecq, Joseph, Romero, Norma, Ottolenghi, Chris, Casanova, Jean-Laurent, Lonlay, Pascale de

Volltext

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency von Monnot, Sophie, Serre, Valérie, Chadefaux-Vekemans, Bernadette, Aupetit, Joelle, Romano, Stéphane, De Lonlay, Pascale, Rival, Jean-Marie, Munnich, Arnold, Steffann, Julie, Bonnefont, Jean-Paul

Volltext