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DateNumber of items: 34.
Journal article
Erdmann, Hannes; Schoeberl, Florian; Giurgiu, Madalina; Silva, Rafaela Magalhaes Leal; Scholz, Veronika; Scharf, Florentine; Wendlandt, Martin; Kleinle, Stephanie; Deschauer, Marcus; Nuebling, Georg; Heide, Wolfgang; Babacan, Sait Seymen; Schneider, Christine; Neuhann, Teresa; Hahn, Katrin; Schoser, Benedikt; Holinski-Feder, Elke; Wolf, Dieter A. und Abicht, Angela
(2022):
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
In: Brain, Vol. 146, No. 5: pp. 1831-1843
Erdmann, Hannes; Scharf, Florentine; Gehling, Stefanie; Benet-Pages, Anna; Jakubiczka, Sibylle; Becker, Kerstin; Seipelt, Maria; Kleefeld, Felix; Knop, Karl Christian; Prott, Eva Christina; Hiebeler, Miriam; Montagnese, Federica; Glaeser, Dieter; Vorgerd, Matthias; Hagenacker, Tim; Walter, Maggie C.; Reilich, Peter; Neuhann, Teresa; Zenker, Martin; Holinski-Feder, Elke; Schoser, Benedikt und Abicht, Angela
(2022):
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
In: Brain, Vol. 146, No. 4: pp. 1388-1402
Hiebeler, Miriam; Reinholz, Markus; Flaig, Michael; Schmidt, Christian; Schoser, Benedikt; Herzinger, Thomas; Abicht, Angela und Reilich, Peter
(2022):
Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophy.
In: Neuromuscular Disorders, Vol. 32, No. 1: pp. 65-70
Gangfuss, Andrea; Hentschel, Andreas; Rademacher, Nina; Sickmann, Albert; Stueve, Burkhard; Horvath, Rita; Gross, Claudia; Kohlschmidt, Nicolai; Foerster, Fabian; Abicht, Angela; Schaenzer, Anne; Schara-Schmidt, Ulrike; Roos, Andreas und Della Marina, Adela
(2022):
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
In: Human Mutation, Vol. 43, No. 4: pp. 477-486
Schöberl, Florian; Abicht, Angela; Kuepper, Clemens; Voelk, Stefanie; Sonnenfeld, Stefan; Tonon, Matthias; Schaub, Annalisa; Scholz, Veronika; Kleinle, Stephanie; Erdmann, Hannes; Wolf, Dieter A. und Reilich, Peter
(2021):
Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?
In: Journal of neurology
[PDF, 488kB]
Reilich, Peter; Schlotter, Beate; Montagnese, Federica; Jordan, Berit; Stock, Friedrich; Schaeff-Vogelsang, Mario; Hotter, Benjamin; Eger, Katherina; Diebold, Isabel; Erdmann, Hannes; Becker, Kerstin; Schoen, Ulrike und Abicht, Angela
(2021):
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
In: Neuromuscular Disorders, Vol. 31, No. 2: pp. 123-133
Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kolbel, Heike; Lochmueller, Hanns; Roos, Andreas und Schara, Ulrike
(December 2020):
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.
In: Frontiers in Human Neuroscience, Vol. 14, 560860: pp. 1-13
[PDF, 857kB]
Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas
(2020):
Delineating MT-ATP6-associated disease.
In: Neurology-Genetics, Vol. 6, No. 1, e393
[PDF, 543kB]
Willimsky, Eva-Katharina; Munzig, Anna; Mayer, Karin; Biskup, Saskia; Abicht, Angela; Hoertnagel, Konstanze; Voss, Hubertus von; Klein, Hanns-Georg; Rost, Imma; Larsen, Line H. G.; Dahl, Hanns Atli; Hoelz, Hannes; Stülpnagel, Celina von und Borggraefe, Ingo
(2020):
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
In: Neuropediatrics, Vol. 52, No. 02: pp. 92-97
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; Borggraefe, Ingo; Suphapeetiporn, Kanya und Stulpnagel, Celina von
(2020):
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
In: Journal of Clinical Neuroscience, Vol. 72: pp. 31-38
Boonsimma, Ponghatai; Gasser, Marius Michael; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthong, Chalurmpon; Ittiwut, Chupong; Wagner, Matias; Krenn, Martin; Zimprich, Fritz; Abicht, Angela; Biskup, Saskia; Roser, Timo; Borggraefe, Ingo; Suphapeetiporn, Kanya und Shotelersuk, Vorasuk
(2020):
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
In: Gene, Vol. 749, 144709
Huang, Jianying; Estacion, Mark; Zhao, Peng; Dib-Hajj, Fadia B.; Schulman, Betsy; Abicht, Angela; Kurth, Ingo; Brockmann, Knut; Waxman, Stephen G. und Dib-Hajj, Sulayman D.
(3. September 2019):
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.
In: Frontiers in Neuroscience, Vol. 13, 918
[PDF, 6MB]
Koelbel, Heike; Abicht, Angela; Schwartz, Oliver; Katona, Istvan; Paulus, Werner; Neuen-Jacob, Eva; Weis, Joachim und Schara, Ulrike
(2019):
Characteristic clinical and ultrastructural findings in nesprinopathies.
In: European Journal of Paediatric Neurology, Vol. 23, No. 2: pp. 254-261
Dusl, Marina; Moreno, Teresa; Muneii, Francina; Macaya, Alfons; Gratacos, Margarida; Abicht, Angela; Strom, Tim M.; Lochmuller, Hanns und Senderek, Jan
(2019):
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
In: Journal of Neurology, Vol. 266, No. 5: pp. 1107-1112
Hölz, Hannes; Herdl, Christian; Gerstl, Lucia; Tacke, Moritz; Vill, Katharina; Stuelpnagel, Celina von; Rost, Imma; Hoertnagel, Konstanze; Abicht, Angela; Hollizeck, Sebastian; Larsen, Line H. G. und Borggraefe, Ingo
(2019):
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
In: Clinical Eeg and Neuroscience, Vol. 51, No. 1: pp. 61-69
Radke, Josefine; Dreesmann, Mona; Radke, Michael; Moers, Arpad von; Abicht, Angela; Stenzel, Werner und Göbel, Hans H.
(2018):
The Curse of Apneic Spells.
In: Seminars in Pediatric Neurology, Vol. 26: pp. 56-58
Brusa, Roberta; Magri, Francesca; Papadimitriou, Dimitra; Govoni, Alessandra; Bo, Roberto del; Ciscato, Patrizia; Savarese, Marco; Cinnante, Claudia; Walter, Maggie C.; Abicht, Angela; Bulst, Stefanie; Corti, Stefania; Moggio, Maurizio; Bresolin, Nereo; Nigro, Vincenzo und Comi, Giacomo Pietro
(2018):
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.
In: Neuromuscular Disorders, Vol. 28, No. 6: pp. 532-537
Ikenberg, Elena; Karin, Ivan; Ertl-Wagner, Birgit; Abicht, Angela; Bulst, Stefanie; Sabine, Krause; Schoser, Benedikt; Reilich, Peter und Walter, Maggie C.
(2017):
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
In: Neuromuscular Disorders, Vol. 27, No. 9: pp. 856-860
Schrank, Bertold; Schoser, Benedikt; Klopstock, Thomas; Schneiderat, Peter; Horvath, Rita; Abicht, Angela; Holinski-Feder, Elke und Augustis, Sarunas
(2017):
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
In: Neuromuscular Disorders, Vol. 27, No. 5: pp. 473-476
O'Connor, Emily; Töpf, Ana; Müller, Juliane S.; Cox, Daniel; Evangelista, Teresinha; Colomer, Jaume; Abicht, Angela; Senderek, Jan; Hasselmann, Oswald; Yaramis, Ahmet; Laval, Steven H. und Lochmüller, Hanns
(2016):
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
In: Brain, Vol. 139: pp. 2143-2153
Suriyanarayanan, Saranya; Auranen, Mari; Toppila, Jussi; Paetau, Anders; Shcherbii, Maria; Palin, Eino; Wei, Yu; Lohioja, Tarja; Schlotter-Weigel, Beate; Schön, Ulrike; Abicht, Angela; Rautenstrauss, Bernd; Tyynismaa, Henna; Walter, Maggie C.; Hornemann, Thorsten und Ylikallio, Emil
(2016):
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
In: Neuromolecular Medicine, Vol. 18, No. 1: pp. 81-90
Dilena, Robertino; Abicht, Angela; Sergi, Paola; Comi, Giacomo P.; Di Fonzo, Alessio; Chidini, Giovanna; Natacci, Federica; Barbieri, Sergio und Lochmüller, Hanns
(2014):
Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants. Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis.
In: Journal of Child Neurology, Vol. 29, No. 3: pp. 389-393
[PDF, 161kB]
Horváth, R.; Klopstock, Thomas; Jaksch, M.; Holinski-Feder, E.; Abicht, Angela; Lochmüller, Hans; Laner, A.; Gempel, K. und Prokisch, H.
(2006):
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).
In: Journal of Neurology, Neurosurgery & Psychiatry, Vol. 77, No. 1: pp. 74-76
[PDF, 78kB]
This list was generated on Sun Oct 13 02:11:48 2024 CEST.