| Title : Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1\/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly - Proepper_2026_Orphanet.J.Rare.Dis_21_ |
| Author(s) : Proepper CR , Schwarz LM , Schuetz SM , von Au K , Bast T , Beaud N , Borggraefe I , Bosch F , Busse M , Chung J , Debus O , Diepold K , Fries T , von Gersdorff G , Haeussler M , Hahn A , Hartlieb T , Heiming R , Herkenrath P , Kluger G , Kreth JH , Kurlemann G , Moeller P , Morris-Rosendahl DJ , Panzer A , Philippi H , Ruegner S , Toepfer C , Vieker S , Wiemer-Kruel A , Winter A , Schuierer G , Hehr U , Geis T |
| Ref : Orphanet J Rare Dis , 21 : , 2026 |
| Abstract : |
| PubMedSearch : Proepper_2026_Orphanet.J.Rare.Dis_21_ |
| PubMedID: 42177523 |
| 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 |