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Nuclear Factors Involved In Mitochondrial Translation Cause A Subgroup Of Combined Respiratory Chain Deficiency
Kemp, John P.; Smith, Paul M.; Pyle, Angela; Neeve, Vivienne C. M.; Tuppen, Helen A. L.; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Lochmüller, Hanns; McFarland, Robert; Chinnery, Patrick F.; Chrzanowska-Lightowlers, Zofia M.A.; Lightowlers, Robert N.; Taylor, Robert W.; Horvath, Rita (2011)
Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial ...
Sil1 Mutations and Clinical Spectrum in Patients with Marinesco-Sjogren Syndrome
Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G.; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S.; Goebel, Hans H.; Haeussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, Francois; Rudnik-Schoeneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Goekhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan (Oxford Univ Press, 2013)
Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More ...
Unraveling The Genetic Landscape Of Autosomal Recessive Charcot-Marie-Tooth Neuropathies Using A Homozygosity Mapping Approach
Zimon, Magdalena; Battaloglu, Esra; Parman, Yesim; Erdem, Sevim; Baets, Jonathan; De Vriendt, Els; Atkinson, Derek; Almeida-Souza, Leonardo; Deconinck, Tine; Ozes, Burcak; Goossens, Dirk; Cirak, Sebahattin; Van Damme, Philip; Shboul, Mohammad; Voit, Thomas; Van Maldergem, Lionel; Dan, Bernard; El-Khateeb, Mohammed S.; Guergueltcheva, Velina; Lopez-Laso, Eduardo; Goemans, Nathalie; Masri, Amira; Zuechner, Stephan; Timmerman, Vincent; Topaloglu, Haluk; De Jonghe, Peter; Jordanova, Albena (Springer, 2015)
Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical ...
Homozygosity Mapping And Targeted Genomic Sequencing Reveal The Gene Responsible For Cerebellar Hypoplasia And Quadrupedal Locomotion In A Consanguineous Kindred
Gulsuner, Suleyman; Tekinay, Ayse Begum; Doerschner, Katja; Boyaci, Huseyin; Bilguvar, Kaya; Unal, Hilal; Ors, Aslihan; Onat, O. Emre; Atalar, Ergin; Basak, A. Nazli; Topaloglu, Haluk; Kansu, Tulay; Tan, Meliha; Tan, Uner; Gunel, Murat; Ozcelik, Tayfun (Cold Spring Harbor Lab Press, Publications Dept, 2011)
The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely ...
Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Three
Papa, Riccardo; Consolaro, Alessandro; Minoia, Francesca; Caorsi, Roberta; Magnano, Gianmichele; Gattorno, Marco; Ravelli, Angelo; Picco, Paolo; Pillon, Roberto; Marafon, Denise Pires; Meli, Lidia; Bracaglia, Claudia; Taddio, Andrea; De Benedetti, Fabrizio; Turan, Enes; Kilic, Sara Sebnem; Itoh, Yasuhiko; Shigemori, Tomoko; Yamanishi, Shingo; Nagasaki, Hidehiko; Tarakci, Ela; Arman, Nilay; Tarakci, Devrim; Akgul, Yusuf S.; Kasapcopur, Ozgur; Wilson, Emily; Lythgoe, Hanna; Smith, Eve; Preston, Jenny; Beresford, Michael W.; Spiegel, Lynn R.; Stinson, Jennifer; Connelly, Mark; Huber, Adam; Luca, Nadia; Tsimicalis, Argerie; Luca, Stephanie; Tajuddin, Naweed; Berard, Roberta; Barsalou, Julie; Campillo, Sarah; Feldman, Brian; Tse, Shirley; Dancey, Paul; Duffy, Ciaran; Johnson, Nicole; McGrath, Patrick; Shiff, Natalie; Tucker, Lori; Victor, Charles; Spiegel, Lynn R.; Lalloo, Chitra; Harris, Lauren; Cafazzo, Joseph; Tucker, Lori; Houghton, Kristin; Feldman, Brian; Luca, Nadia; Laxer, Ronald; Stinson, Jennifer; Arman, Nilay; Tarakci, Ela; Kasapcopur, Ozgur; Rooney, Madeleine; Campbell, Roisin; Wright, Catherine; Armbrust, Wineke; Lelieveld, Otto; Tuinstra, Jolanda; Wulffraat, Nico; Bos, Joyce; Cappon, Jeanette; van Rossum, Marion; Hagedoorn, Mariët; Vermé, Anna; Lampela, Ylva; Ozdogan, Ayse Huri; Ugurlu, S.; Barut, K.; Androvic, A.; Kasapçopu, O.; Wilson, Emily; Etheridge, Jody; Smith, Eve; Dobson, Katie; Kemp, Sue; Beresford, Michael W.; Horne, AnnaCarin; Palmblad, Karin; Höglund, Malin; Stepanenko, Natalia; Salugina, Svetlana; Fedorov, Evgeny; Nikishina, Irina; Kaleda, Maria; Arman, Nilay; Tarakci, Ela; Barut, Kenan; Adrovic, Amra; Sahin, Sezgin; Kasapcopur, Ozgur; Arman, Nilay; Tarakci, Ela; Kasapcopur, Ozgur; Toumoulin, Laurence; Frossard, Johnny; Archimbaut, Stephanie; Paitier, Anne; Guastalli, Rolande; Czitrom, Severine Guillaume; Charuvanij, Sirirat; Chaiyadech, Chollada; Miyamae, Takako; Yamanaka, Hisashi; Picard, Cecile; Thouvenin, Guillaume; Kannengiesser, Caroline; Dubus, Jean-Christophe; Jeremiah, Nadia; Rieux-Laucat, Frédéric; Crestani, Bruno; Secq, Véronique; Ménard, Christelle; Reynaud-Gaubert, Martine; Thivolet-Bejui, Françoise; Reix, Philippe; Belot, Alexandre; Batu, Ezgi Deniz; Sonmez, Hafize Emine; Erden, Abdulsamet; Taskiran, Ekim Z.; Karadag, Omer; Kalyoncu, Umut; Oncel, İbrahim; Kaplan, Berkan; Arici, Zehra Serap; Temucin, Cagri Mesut; Topaloglu, Haluk; Bilginer, Yelda; Alikasifoglu, Mehmet; Ozen, Seza; Van Eyck, Lien; De Langhe, Ellen; Jéru, Isabelle; Van Nieuwenhove, Erika; Lagou, Vasiliki; Baker, Paul J.; Garcia-Perez, Jocelyn; Dooley, James; De Somer, Lien; Sciot, Raf; Jeandel, Pierre-Yves; Ruuth-Praz, Julia; Copin, Bruno; Medley-Hashim, Myrna; Megarbane, Andre; Savic, Sinisa; Goris, An; Amselem, Serge; Liston, Adrian; Masters, Seth; Wouters, Carine; Okamoto, Nami; Sugita, Yuko; Shabana, Kousuke; Murata, Takuji; Tamai, Hiroshi; Ferenczová, Juliana; Banóova, Erika; Mrážik, Pavol; Vargova, Veronika; Bajramovic, Dubravko; Novacki, Ksenija Stekic; Potocki, Kristina; Frkovic, Marijan; Jelusic, Marija; Nikishina, Irina; Kostareva, Olga; Arsenyeva, Svetlana; Kaleda, Maria; Shapovalenko, Anna; Jans, Lennart; Herregods, Nele; Jaremko, Jacob; Joos, Rik; Dehoorne, Joke; Herregods, Nele; Jaremko, Jacob; Baraliakos, Xenofon; Dehoorne, Joke; Joos, Rik; Jans, Lennart; Ramiro, Sofia; Casasola-Vargas, Julio C.; van der Heijde, Désirée; Landewé, Robert; Burgos-Vargas, Ruben; Burgos-Vargas, Ruben; Tse, Shirley M.; Horneff, Gerd; Unnebrink, Kristina; Anderson, Jaclyn K.; Kisaarslan, Aysenur Paç; Sözeri, Betül; Gündüz, Zübeyde; Zararsız, Gökmen; Poyrazoğlu, Hakan; Düşünsel, Ruhan; Ouchi, Kazutaka; Akioka, Shinji; Kubo, Hiroshi; Nakagawa, Norio; Hosoi, Hajime; Lamot, Lovro; Borovecki, Fran; Kapitanovic, Sanja; Gotovac, Kristina; Vidovic, Mandica; Lamot, Mirta; Bosak, Edi Paleka; Harjacek, Miroslav; Russo, Ricardo A.; Katsicas, María M.; Vargas, Ruben Burgos; Ortiz-Peyegahud, Ana L.; Pingping, Zhang; Yikun, Mou; Jun, Qi; Yutong, Jiang; Jieruo, Gu; Kostik, Mikhail M.; Ekaterina, Shilova; Avrusin, Ilia; Korin, Yuriy; Kopchak, Olga; Isupova, Eugenia; Chikova, Irina; Tatyana, Panova; Dubko, Margarita; Masalova, Vera; Snegireva, Ludmila; Kornishina, Tatyana; Kalashnikova, Olga; Chasnyk, Vyacheslav; Kostik, Mikhail M.; Chikova, Irina; Isupova, Eugenia; Dubko, Margarita; Masalova, Vera; Snegireva, Ludmila; Kornishina, Tatyana; Likhacheva, Tatyana; Kalashnikova, Olga; Chasnyk, Vyacheslav; Ruperto, N.; Brunner, H. I.; Quartier, P.; Constantin, T.; Alexeeva, E.; Schneider, R.; Kone-Paut, I.; Schikler, K.; Marzan, K.; Wulffraat, N.; Padeh, S.; Chasnyk, V.; Wouters, C.; Kuemmerle-Deschner, J. B.; Kallinich, T.; Lauwerys, B.; Haddad, E.; Nasonov, E.; Trachana, M.; Vougiouka, O.; Leon, K.; Speziale, A.; Lheritier, K.; Vritzali, E.; Martini, A.; Lovell, D.; Ter Haar, Nienke; Scholman, Rianne; de Jager, Wilco; Tak, Tamar; Leliefeld, Pieter; Vastert, Bas; de Roock, Sytze; Ter Haar, Nienke; Scholman, Rianne; de Jager, Wilco; de Ganck, Ariane; Ryter, Nadia; Lavric, Miha; Foell, Dirk; de Roock, Sytze; Vastert, Bas; Modica, Renee F.; Lomax, Kathleen G.; Batzel, Pamela; Cassanas, Armelle; Elder, Melissa E.; Denisova, Rina; Alexeeva, Ekaterina; Valieva, Saniya; Bzarova, Tatyana; Isayeva, Kseniya; Sleptsova, Tatyana; Lomakina, Olga; Chomahidze, Alexandra; Soloshenko, Margarita; Shingarova, Meyry; Kachshenko, Elena; De Jager, Wilco; Vastert, Sebastiaan J.; Mijnheer, Gerdien; Prakken, Berent J.; Wulffraat, Nico M.; Sönmez, Hafize E.; Karhan, Asuman N.; Batu, Ezgi D.; Bilginer, Yelda; Arıcı, Zehra S.; Gümüş, Ersin; Demir, Hülya; Yüce, Aysel; Özen, Seza; Ahluwalia, Jasmina; Bharti, Bhavneet; Rajpal, Sweta; Uppal, Varun; Walia, Alaknanda; Samlok, Surjit S.; Kumar, Narender; Valões, Clarissa C.; Molinari, Beatriz C.; Pitta, Ana Claudia G.; Gormezano, Natali W.; Farhat, Sylvia C.; Kozu, Kátia; Sallum, Adriana M.; Appenzeller, Simone; Sakamoto, Ana Paula; Terreri, Maria T.; Pereira, Rosa M.; Magalhães, Claudia S.; Barbosa, Cássia Maria; Gomes, Francisco Hugo; Bonfá, Eloisa; Silva, Clovis A.; Ozturk, Kubra; Ekinci, Zelal; Helal, Maie; Cabrera, Natalia; Belot, Alexandre; Lega, Jean Christophe; Drai, Jocelyne; Ecochard, Rene; Shpitonkova, O. V.; Podchernyaeva, N. S.; Kostina, Y. O.; Dashkova, N. G.; Osminina, M. K.; Yucel, Gozde; Sahin, Sezgin; Adrovic, Amra; Barut, Kenan; Tarakci, Ela; Arvas, Ahmet; Moorthy, Nandini; Kasapcopur, Ozgur; Dimou, Paraskevi; Midgley, Angela; Peak, Matthew; Satchell, Simon C.; Wright, Rachael D.; Beresford, Michael W.; Corkhill, Rachel; Smith, Eve M.; Beresford, Michael W.; Bhattad, Sagar; Rawat, Amit; Singh, Surjit; Gupta, Anju; Suri, Deepti; de Boer, Martin; Kuijpers, Taco; Bhattad, Sagar; Rawat, Amit; Gupta, Anju; Suri, Deepti; Pandiarajan, Vignesh; Singh, Surjit; Sandal, Sapna; Rawat, Amit; Gupta, Anju; Singh, Surjit; Giraldo, Sebastian; Sanguino, Roy; Diaz, Adriana S.; Uzuner, Selcuk; Sahin, Sezgin; Durcan, Gizem; Adrovic, Amra; Barut, Kenan; Kilicoglu, Ali Guven; Bilgic, Ayhan; Bahali, Kayhan; Kasapcopur, Ozgur; Sahin, Sezgin; Adrovic, Amra; Barut, Kenan; Durmus, Sinem; Uzun, Hafize; Kasapcopur, Ozgur; Sahin, Sezgin; Adrovic, Amra; Barut, Kenan; Canpolat, Nur; Caliskan, Salim; Sever, Lale; Kasapcopur, Ozgur; Sato, Tomomi; Kimura, Fuminori; Suwairi, Wafaa; Abdwani, Reem; Al Rowais, Abdulaziz; Al qanatish, Jubran; Al Asiri, Abdulrahman; Ozturk, Kubra; Ekinci, Zelal; Gaidar, Ekaterina; Kostik, Mikhail; Dubko, Margarita; Masalova, Vera; Serogodskaya, Elena; Snegireva, Ludmila; Nikitina, Tatyana; Chasnyk, Vyacheslav; Kalashnikova, Olga; Isupova, Evgenia; Sardar, Elham; Dusser, Perrine; Rousseau, Antoine; Labetoulle, Marc; Barreau, Emanuel; Bodaghi, Bahram; Kone-Paut, Isabelle; Foeldvari, Ivan; Anton, Jordi; Bou, Rosa; Angeles-Han, Sheila; Bangsgaard, Regitze; Brumm, Gabriele; Constantin, Tamas; Edelsten, Clive; Klotsche, Jens; Minden, Kirsten; Miserocchi, Elisabetta; Nielsen, Susan; Simonini, Gabriele; Heiligenhaus, Arnd; Foeldvari, Ivan; Anton, Jordi; Bou, Rosa; Angeles-Han, Sheila; Bangsgaard, Regitze; Brumm, Gabriele; Constantin, Tamas; Edelsten, Clive; Klotsche, Jens; Minden, Kirsten; Miserocchi, Elisabetta; Nielsen, Susan; Simonini, Gabriele; Heiligenhaus, Arnd; Foeldvari, Ivan; Anton, Jordi; Bou, Rosa; Angeles-Han, Sheila; Bangsgaard, Regitze; Brumm, Gabriele; Constantin, Tamas; Edelsten, Clive; Klotsche, Jens; Minden, Kirsten; Miserocchi, Elisabetta; Nielsen, Susan; Simonini, Gabriele; Heiligenhaus, Arnd; Foeldvari, Ivan; Anton, Jordi; Bou, Rosa; Angeles-Han, Sheila; Bangsgaard, Regitze; Brumm, Gabriele; Constantin, Tamas; Edelsten, Clive; Klotsche, Jens; Minden, Kirsten; Miserocchi, Elisabetta; Nielsen, Susan; Simonini, Gabriele; Heiligenhaus, Arnd; Angarita, Juan Manuel Mosquera; Bou, Rosa; de Vicuña, Carmen Garcia; Hernandez, Maria Victoria; Adan, Alfredo; Llorens, Victor; Alcobendas, Rosa; Noval, Susana; Robledillo, Juan Carlos Lopez; Valls, Isabel; Pinedo, Mari Carmen; Fonollosa, Alejandro; de Inocencio, Jaime; Tejada, Pilar; Bravo, Beatriz; Torribio, Manuel; de Yebenes, María Jesús García; Antón, Jordi; Argolini, Lorenza Maria; Pontikaki, Irene; Borghi, Maria Orietta; Cesana, Laura; Miserocchi, Elisabetta; Castiglioni, Barbara; Gattinara, Maurizio; Meroni, Pierluigi; Quartier, Pierre; Despert, Veronique; Poignant, Sylvaine; Baptiste, Amandine; Elie, Caroline; Kone-Paut, Isabelle; Belot, Alexandre; Kodjikian, Laurent; Monnet, Dominique; Weber, Michel; Bodaghi, Bahram; Moal, Laura; Rousseau, Antoine; Pham, LuuLy; Barreau, Emmanuel; Titah, Cherif; Dureau, Pascal; Labetoulle, Marc; Bodaghi, Bahram; Czitrom, Severine Guillaume; Cecchin, Vanessa; Zannin, Maria Elisabetta; Ferrari, Daniele; Comacchio, Francesco; Pontikaki, Irene; Bracaglia, Claudia; Cimaz, Rolando; Falcini, Fernanda; Petaccia, Antonella; Viola, Stefania; Breda, Luciana; La Torre, Francesco; Vittadello, Fabio; Martini, Giorgia; Zulian, Francesco; Galeotti, Caroline; Sarrabay, Guillaume; Fogel, Olivier; Touitou, Isabelle; Bodaghi, Bahram; Miceli-Richard, Corinne; Koné-Paut, Isabelle; Etayari, Hala; Soad, Hashad; El Kadry, Ihab; Eatamadi, Habibullah; AlAlgawi, Kais; Al Maini, Mustafa; Khawaja, Khulood; Van den Berghe, Sophie; de Schryver, Ilse; Raes, Ann; Joos, Rik; Dehoorne, Joke; Teixeira, Lídia L. C.; Duarte, Ana; Sousa, Sandra; Vinagre, Filipe; Santos, Maria J.; Shevchenko, Nataly S.; Bogmat, Ludmila F.; Demyanenko, Marina V.; Ramchurn, Navdha R.; Friswell, Mark; James, Rebecca A.; Wedderburn, Lucy R.; Edelsten, Clive; Pattani, Reshma; Pilkington, Clarissa A.; Compeyrot-Lacassagne, Sandrine; James, Rebecca A.; Compeyrot-Lacassagne, Sandrine; Edelsten, Clive; Pattani, Reshma; Pilkington, Clarissa A.; Wedderburn, Lucy R.; Villarreal, Ana V.; Acevedo, Nydia; Faugier, Enrique; Maldonado, Rocio; Yılmaz, Dilek; Uysal, Hilal Bektaş; Fedorov, Evgeny; Salugina, Svetlana; Kamenets, Elena; Zaharova, Ekaterina; Radenska-Lopovok, Stefka; Nascimento, Joao; Sofia, Helena; Zilhão, Carla; Almeida, Rui; Guedes, Margarida; Ozturk, Kubra; Deveci, Murat; Ekinci, Zelal; Rodionovskaya, Svetlana; Vinnikova, Vera; Salugina, Svetlana; Fedorov, Evgeny; Tsymbal, Irina; Olesińska, Edyta; Postępski, Jacek; Mroczkowska-Juchkiewicz, Agnieszka; Pawłowska-Kamieniak, Agnieszka; Chrapko, Beata; Ključevšek, Damjana; Emeršič, Nina; Toplak, Nataša; Avčin, Tadej; Rokhlina, Faina; Glazyrina, Galina; Kolyadina, Natalia; Kim, Kwangnam; Eom, Sinae; Kim, Daeyoung; Rhim, Jungwoo; Ricci, Francesca; Montesano, Paola; Bonafini, Barbara; Medeghini, Veronica; Parissenti, Ilaria; Meini, Antonella; Cattalini, Marco; Airò, Paolo; Panko, Nataliya; Shevchenko, Nataliya; Lebec, Iryna; Zajceva, Yevgeniya; Rostlund, Sara; André, Marie; Hara, Takuma; Kishi, Takayuki; Tani, Yumi; Hanaya, Aki; Miyamae, Takako; Nagata, Satoru; Yamanaka, Hisashi; Selmanovic, Velma; Omercahic-Dizdarevic, Aida; Cengic, Adisa; Cosickic, Almira; Dizdarević, Aida Omerčahić; Lepri, Gemma; Picco, Paolo; Malattia, Clara; Bellucci, Eleonora; Matucci-Cerinic, Marco; Falcini, Fernanda; Dubko, Margarita; Solovyev, Anton; Fedotova, Elena; Maldonado, Rocio; Faugier, Enrique; Villarreal, Ana Victoria; Acevedo, Nydia; Diaz, Talia; Ramirez, Yuridiana; Giani, Teresa; Marino, Achille; Simonini, Gabriele; Cimaz, Rolando; Hunt, Daniel; Al Obaidi, Muthana; Veli, Veli; Papadopoulou, Charalampia; Kammermeier, Jochen; Olesińska, Edyta; Poluha, Anna; Postępski, Jacek; Bharmappanavara, Gangadhara C.; Kelly, Alison; Shaw, Lindsay; Giani, Teresa; Ferrara, Giovanna; Luzzati, Michele; Marino, Achille; Giovannini, Mattia; Simonini, Gabriele; Cimaz, Rolando; Jurado, Liliana; Giraldo, Sebastian; Chamorro, Juliana; Sarmiento, Lorena; Diaz, Adriana S.; Medeghini, Veronica; Ricci, Francesca; Montesano, Paola; Bonafini, Barbara; Parissenti, Ilaria; Meini, Antonella; Conversano, Ester; Cattalini, Marco; Gicchino, Maria Francesca; Macchini, Giulia; Granato, Carmela; Tirelli, Assunta; Olivieri, Alma N.; Perica, Marija; Bukovac, Lana Tambić; Bogmat, Ludmila F.; Shevchenko, Nataly S.; Demyanenko, Marina V.; Sinaei, Reza; Parvaneh, Vadood Javadi; Shiari, Reza; Rahmani, Khosro; Mehregan, Fatemeh F.; Yeganeh, Mehrnoush Hassas; Penadés, Inmaculada Calvo; Montesinos, Berta López; Fernández, Ma Isabel González; Vidal, Adriana Rodríguez; Rao, Anand Prahalad; Romana, Ayesha; Raghuram, Jyothi; Kumar, Ankur; Suri, Deepti; Gupta, Vishali; Rawat, Amit; Singh, Surjit; Comak, Elif; Aksoy, Gülşah Kaya; Yılmaz, Aygen; Atalay, Atike; Koyun, Mustafa; Artan, Reha; Akman, Sema; Gicchino, Maria Francesca; Macchini, Giulia; Granato, Carmela; Olivieri, Alma N.; Kaleda, Maria I.; Nikishina, Irina P.; Soloviev, Sergei K.; Malievsky, Victor A.; Nikolaeva, Ekaterina V.; Giani, Teresa; Marino, Achille; Simonini, Gabriele; Cimaz, Rolando; Gazda, Agnieszka; Kołodziejczyk, Beata; Rutkowska-Sak, Lidia; Mauro, Angela; Giani, Teresa; Simonini, Gabriele; Cimaz, Rolando; Gicchino, Maria Francesca; Marzuillo, Pierluigi; Guarino, Stefano; Olivieri, Alma N.; La Manna, Angela (2017)
Natural History Of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey
Akinci, Bans; Onay, Huseyin; Demir, Tevfik; Ozen, Samim; Kayserili, Hulya; Akinci, Gulcin; Nur, Banu; Tuysuz, Beyhan; Ozbek, Mehmet Nun; Gungor, Adem; Simsir, Ilgin Yildirim; Altay, Canan; Demir, Leyla; Simsek, Enver; Atmaca, Murat; Topaloglu, Haluk; Bilen, Habib; Atmaca, Hulusi; Atik, Tahir; Cavdar, Umit; Altunoglu, Umut; Aslanger, Ayca; Mihci, Ercan; Secil, Mustafa; Saygili, Fusun; Comlekci, Abdurrahman; Garg, Abhimanyu (Oxford Univ Press, 2016)
Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to study natural history and disease burden of various subtypes ...