1. Thomsen myotonia—A 4‐generation family with a new mutation and a mild phenotype. Issue 4 (29th December 2015) Authors: Derevenciuc, Adina‐Ioana; Abicht, Angela; Hamza, Suad; Roth, Christian; Ferbert, Andreas Journal: Muscle & nerve Issue: Volume 53:Issue 4(2016) Page Start: 653 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mitochondrial dysfunction in liver failure requiring transplantation. Issue 3 (6th April 2016) Authors: Lane, Maria; Boczonadi, Veronika; Bachtari, Sahar; Gomez‐Duran, Aurora; Langer, Thorsten; Griffiths, Alexandra; Kleinle, Stephanie; Dineiger, Christine; Abicht, Angela; Holinski‐Feder, Elke; Schara, Ulrike; Gerner, Patrick; Horvath, Rita Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 3(2016) Page Start: 427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center. (January 2020) Authors: Hoelz, Hannes; Herdl, Christian; Gerstl, Lucia; Tacke, Moritz; Vill, Katharina; von Stuelpnagel, Celina; Rost, Imma; Hoertnagel, Konstanze; Abicht, Angela; Hollizeck, Sebastian; Larsen, Line H. G.; Borggraefe, Ingo Journal: Clinical EEG and neuroscience Issue: Volume 51:Number 1(2020) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). Issue 2 (August 2016) Authors: Claeys, Kristl G.; Abicht, Angela; Häusler, Martin; Kleinle, Stephanie; Wiesmann, Martin; Schulz, Jörg B.; Horvath, Rita; Weis, Joachim Journal: Muscle & nerve Issue: Volume 54:Issue 2(2016) Page Start: 328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. 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) ↗
9. 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) ↗
10. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021) Authors: Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗