Neuromuscular disorders in Anatolia - A personal review

被引:2
作者
Topaloglu, Haluk [1 ]
机构
[1] Hacettepe Childrens Hosp Med Ctr, TR-06100 Ankara, Turkey
关键词
CONGENITAL MUSCULAR-DYSTROPHY; CHOLINE KINASE BETA; DISEASE GENE; MUTATIONS; FORM; MITOCHONDRIA; DEFICIENCY; HEMOLYSIS; MYOPATHY; SEQUENCE;
D O I
10.1016/j.nmd.2018.12.014
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:152 / 156
页数:5
相关论文
共 46 条
[11]   Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities [J].
Haak, Wolfgang ;
Balanovsky, Oleg ;
Sanchez, Juan J. ;
Koshel, Sergey ;
Zaporozhchenko, Valery ;
Adler, Christina J. ;
Sarkissian, Clio S. I. Der ;
Brandt, Guido ;
Schwarz, Carolin ;
Nicklisch, Nicole ;
Dresely, Veit ;
Fritsch, Barbara ;
Balanovska, Elena ;
Villems, Richard ;
Meller, Harald ;
Alt, Kurt W. ;
Cooper, Alan .
PLOS BIOLOGY, 2010, 8 (11)
[12]  
Haliloglu G, 2003, NEUROPEDIATRICS, V34, P1
[13]   Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients [J].
Haliloglu, Goknur ;
Talim, Beril ;
Sel, Cigdem Genc ;
Topaloglu, Haluk .
JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (06) :1099-1108
[14]   Early-onset chronic axonal neuropathy, strokes, and hemolysis Inherited CD59 deficiency [J].
Haliloglu, Goknur ;
Maluenda, Jerome ;
Sayinbatur, Bahattin ;
Aumont, Cedric ;
Temucin, Cagri ;
Tavil, Betul ;
Cetin, Mualla ;
Oguz, Kader K. ;
Gut, Ivo ;
Picard, Veronique ;
Melki, Judith ;
Topaloglu, Haluk .
NEUROLOGY, 2015, 84 (12) :1220-1224
[15]   BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy [J].
Hara, Yuji ;
Balci-Hayta, Burcu ;
Yoshida-Moriguchi, Takako ;
Kanagawa, Motoi ;
de Bernabe, Daniel Beltran-Valero ;
Gundesli, Hulya ;
Willer, Tobias ;
Satz, Jakob S. ;
Crawford, Robert W. ;
Burden, Steven J. ;
Kunz, Stefan ;
Oldstone, Michael B. A. ;
Accardi, Alessio ;
Talim, Beril ;
Muntoni, Francesco ;
Topaloglu, Haluk ;
Dincer, Pervin ;
Campbell, Kevin P. .
NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (10) :939-946
[16]   Membrane attack complex inhibitor CD59a protects against focal cerebral ischemia in mice [J].
Harhausen, Denise ;
Khojasteh, Uldus ;
Stahel, Philip F. ;
Morgan, B. Paul ;
Nietfeld, Wilfried ;
Dirnagl, Ulrich ;
Trendelenburg, George .
JOURNAL OF NEUROINFLAMMATION, 2010, 7
[17]   MUTATIONS IN THE LAMININ ALPHA-2-CHAIN GENE (LAMA2) CAUSE MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY [J].
HELBLINGLECLERC, A ;
ZHANG, X ;
TOPALOGLU, H ;
CRUAUD, C ;
TESSON, F ;
WEISSENBACH, J ;
TOME, FMS ;
SCHWARTZ, K ;
FARDEAU, M ;
TRYGGVASON, K ;
GUICHENEY, P .
NATURE GENETICS, 1995, 11 (02) :216-218
[18]   Targeted Therapy with Eculizumab for Inherited CD59 Deficiency [J].
Hoechsmann, Britta ;
Dohna-Schwake, Christian ;
Kyrieleis, Henriette A. ;
Pannicke, Ulrich ;
Schrezenmeier, Hubert .
NEW ENGLAND JOURNAL OF MEDICINE, 2014, 370 (01) :90-92
[19]   Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies [J].
Kayman-Kurekci, Gulsum ;
Talim, Beril ;
Korkusuz, Petek ;
Sayar, Nilufer ;
Sarioglu, Turkan ;
Oncel, Ibrahim ;
Sharafi, Parisa ;
Gundesli, Hulya ;
Balci-Hayta, Burcu ;
Purali, Nuhan ;
Serdaroglu-Oflazer, Piraye ;
Topaloglu, Haluk ;
Dincer, Pervin .
NEUROMUSCULAR DISORDERS, 2014, 24 (07) :624-633
[20]   The Demographic Development of the First Farmers in Anatolia [J].
Kilinc, Gulsah Merve ;
Omrak, Ayca ;
Ozer, Fusun ;
Gunther, Torsten ;
Buyukkarakaya, Ali Metin ;
Bicakci, Erhan ;
Baird, Douglas ;
Donertas, Handan Melike ;
Ghalichi, Ayshin ;
Yaka, Reyhan ;
Koptekin, Dilek ;
Acan, Sinan Can ;
Parvizi, Poorya ;
Krzewinska, Maja ;
Daskalaki, Evangelia A. ;
Yuncu, Eren ;
Dagtas, Nihan Dilsad ;
Fairbairn, Andrew ;
Pearson, Jessica ;
Mustafaoglu, Gokhan ;
Erdal, Yilmaz Selim ;
Cakan, Yasin Gokhan ;
Togan, Inci ;
Somel, Mehmet ;
Stora, Jan ;
Jakobsson, Mattias ;
Gotherstrom, Anders .
CURRENT BIOLOGY, 2016, 26 (19) :2659-2666