Kurlemann G

Title : Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507

Author(s) : Dohrn MF , Glockle N , Mulahasanovic L , Heller C , Mohr J , Bauer C , Riesch E , Becker A , Battke F , Hortnagel K , Hornemann T , Suriyanarayanan S , Blankenburg M , Schulz JB , Claeys KG , Gess B , Katona I , Ferbert A , Vittore D , Grimm A , Wolking S , Schols L , Lerche H , Korenke GC , Fischer D , Schrank B , Kotzaeridou U , Kurlemann G , Drager B , Schirmacher A , Young P , Schlotter-Weigel B , Biskup S

Ref : Journal of Neurochemistry , 143 :507 , 2017

Abstract :

PubMedSearch : Dohrn_2017_J.Neurochem_143_507

PubMedID: 28902413

Gene_locus related to this paper: human-NDRG1

Title : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747

Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H

Ref : Brain , 131 :747 , 2008

Abstract :

PubMedSearch : Mihaylova_2008_Brain_131_747

PubMedID: 18180250

Kurlemann G

References (2)

1. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507

2. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747