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
[1]   Neonatal-Onset Recurrent Guillain-Barre Syndrome-Like Disease: Clues for Inherited CD59 Deficiency [J].
Ardicli, Didem ;
Taskiran, Ekim Z. ;
Kosukcu, Can ;
Temucin, Cagri ;
Oguz, Kader K. ;
Haliloglu, Goknur ;
Alikasifoglu, Mehmet ;
Topaloglu, Haluk .
NEUROPEDIATRICS, 2017, 48 (06) :477-481
[2]   An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene [J].
Balci, B ;
Uyanik, G ;
Dincer, P ;
Gross, C ;
Willer, T ;
Talim, B ;
Haliloglu, G ;
Kale, G ;
Hehr, U ;
Winkler, J ;
Topaloglu, H .
NEUROMUSCULAR DISORDERS, 2005, 15 (04) :271-275
[3]   So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager [J].
Beresford, MW ;
Pourfarzam, M ;
Turnbull, DM ;
Davidson, JE .
NEUROMUSCULAR DISORDERS, 2006, 16 (04) :269-273
[4]   The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy [J].
Bomont, P ;
Cavalier, L ;
Blondeau, F ;
Hamida, CB ;
Belal, S ;
Tazir, M ;
Demir, E ;
Topaloglu, H ;
Korinthenberg, R ;
Tüysüz, B ;
Landrieu, P ;
Hentati, F ;
Koenig, M .
NATURE GENETICS, 2000, 26 (03) :370-374
[5]   Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB [J].
Brady, L. ;
Giri, M. ;
Provias, J. ;
Hoffrnan, E. ;
Tarnopolsky, M. .
NEUROMUSCULAR DISORDERS, 2016, 26 (02) :160-164
[6]   Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion [J].
Castro-Gago, Manuel ;
Dacruz-Alvarez, David ;
Pintos-Martinez, Elena ;
Beiras-Iglesias, Andres ;
Delmiro, Aitor ;
Arenas, Joaquin ;
Martin, Miguel Angel ;
Martinez-Azorin, Francisco .
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2014, 18 (06) :796-800
[7]   CONGENITAL MUSCULAR-DYSTROPHY OF A NON-FUKUYAMA TYPE WITH CHARACTERISTIC CT IMAGES [J].
CASTROGAGO, M ;
PENAGUITIAN, J .
BRAIN & DEVELOPMENT, 1988, 10 (01) :60-60
[8]   Geographic variation in human mitochondrial DNA control region sequence: The population history of Turkey and its relationship to the European populations [J].
Comas, D ;
Calafell, F ;
Mateu, E ;
PerezLezaun, A ;
Bertranpetit, J .
MOLECULAR BIOLOGY AND EVOLUTION, 1996, 13 (08) :1067-1077
[9]   Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping [J].
Corman, B ;
Avela, K ;
Pihko, H ;
Santavuori, P ;
Talim, B ;
Topaloglu, H ;
de la Chapelle, A ;
Lehesjoki, AE .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) :126-135
[10]   The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene [J].
Gempel, Klaus ;
Topaloglu, Haluk ;
Talim, Beril ;
Schneiderat, Peter ;
Schoser, Benedikt G. H. ;
Hans, Volkmar H. ;
Palmafy, Beatrix ;
Kale, Gulsev ;
Tokatli, Aysegul ;
Quinzii, Catarina ;
Hirano, Michio ;
Naini, Ali ;
DiMauro, Salvatore ;
Prokisch, Holger ;
Lochmueller, Hanns ;
Horvath, Rita .
BRAIN, 2007, 130 :2037-2044