1. ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment. (13th October 2015) Authors: Braczynski, Anne K.; Vlaho, Stefan; Müller, Klaus; Wittig, Ilka; Blank, Anna-Eva; Tews, Dominique S.; Drott, Ulrich; Kleinle, Stephanie; Abicht, Angela; Horvath, Rita; Plate, Karl H.; Stenzel, Werner; Goebel, Hans H.; Schulze, Andreas; Harter, Patrick N.; Kieslich, Matthias; Mittelbronn, Michel Other Names: Mancuso Michelangelo Academic Editor. Journal: BioMed research international Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. (February 2020) Authors: Gasser, Marius; Boonsimma, Ponghatai; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthomg, Chalurmpon; Ittiwut, Chupong; Krenn, Martin; Zimprich, Fritz; Milenkovic, Ivan; Abicht, Angela; Biskup, Saskia; Roser, Timo; Shotelersuk, Vorasuk; Tacke, Moritz; Kuersten, Marianne; Wagner, Matias; Borggr... Journal: Journal of clinical neuroscience Issue: Volume 72(2020) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characteristic clinical and ultrastructural findings in nesprinopathies. (March 2019) Authors: Kölbel, Heike; Abicht, Angela; Schwartz, Oliver; Katona, Istvan; Paulus, Werner; Neuen-Jacob, Eva; Weis, Joachim; Schara, Ulrike Journal: European journal of paediatric neurology Issue: Volume 23:Number 2(2019:Mar.) Page Start: 254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants: Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis. (March 2014) Authors: Dilena, Robertino; Abicht, Angela; Sergi, Paola; Comi, Giacomo P.; Fonzo, Alessio Di; Chidini, Giovanna; Natacci, Federica; Barbieri, Sergio; Lochmüller, Hanns Journal: Journal of child neurology Issue: Volume 29:Number 3(2014:Mar.) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes. Issue 5 (18th February 2020) Authors: Diebold, Isabel; Schön, Ulrike; Scharf, Florentine; Benet‐Pagès, Anna; Laner, Andreas; Holinski‐Feder, Elke; Abicht, Angela Journal: Human mutation Issue: Volume 41:Issue 5(2020) Page Start: 1025 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Differential diagnosis of vacuolar myopathies in the NGS era. (15th June 2020) Authors: Mair, Dorothea; Biskup, Saskia; Kress, Wolfram; Abicht, Angela; Brück, Wolfgang; Zechel, Sabrina; Knop, Karl Christian; Koenig, Fatima Barbara; Tey, Shelisa; Nikolin, Stefan; Eggermann, Katja; Kurth, Ingo; Ferbert, Andreas; Weis, Joachim Journal: Brain pathology Issue: Volume 30:Number 5(2020) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. Issue 5 (October 2015) Authors: Köhler, Cornelia; Heyer, Christoph; Hoffjan, Sabine; Stemmler, Susanne; Lücke, Thomas; Thiels, Charlotte; Kohlschütter, Alfried; Löbel, Ulrike; Horvath, Rita; Kleinle, Stephanie; Benet-Pages, Anna; Abicht, Angela Journal: Molecular and cellular probes Issue: Volume 29:Issue 5(2015) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation. (6th December 2012) Authors: Czell, David; Abicht, Angela; Hench, Jürgen; Weber, Markus Journal: BMJ case reports Issue: Volume 2012 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genotype‐phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome. Issue 2 (24th February 2020) Authors: Thimm, Andreas; Rahal, Ahmad; Schoen, Ulrike; Abicht, Angela; Klebe, Stephan; Kleinschnitz, Christoph; Hagenacker, Tim; Stettner, Mark Journal: Journal of the peripheral nervous system Issue: Volume 25:Issue 2(2020) Page Start: 112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing. (April 2019) Authors: Diebold, Isabel; Schön, Ulrike; Horvath, Rita; Schwartz, Oliver; Holinski-Feder, Elke; Kölbel, Heike; Abicht, Angela Journal: Molecular and cellular probes Issue: Volume 44(2019) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗