|
Eine Ebene nach oben |
Gruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 34
Zeitschriftenartikel
Rabenstein, Monika; Abicht, Angela; Brunn, Anna; Lehmann, Helmar und Wunderlich, Gilbert
(2022):
Persistent hypokalaemia and intermittent muscle weakness.
In: Practical Neurology, Bd. 22, Nr. 6: S. 518-520
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, Bd. 146, Nr. 5: S. 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, Bd. 146, Nr. 4: S. 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, Bd. 32, Nr. 1: S. 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, Bd. 43, Nr. 4: S. 477-486
Abicht, Angela; Schön, Ulrike; Laner, Andreas; Holinski-Feder, Elke und Diebold, Isabel
(2021):
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.
In: Cardiovascular Diagnosis and Therapy, Bd. 11, Nr. 2:
637-
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]
Hiebeler, Miriam; Abicht, Angela; Reilich, Peter und Walter, Maggie C.
(2021):
Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3.
In: Journal of Neuromuscular Diseases, Bd. 8, Nr. 4: S. 537-542
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, Bd. 31, Nr. 2: S. 123-133
Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kolbel, Heike; Lochmueller, Hanns; Roos, Andreas und Schara, Ulrike
(Dezember 2020):
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.
In: Frontiers in Human Neuroscience, Bd. 14, 560860: S. 1-13
[PDF, 857kB]
Montagnese, Federica; Grabmaier, Ulrich; Abicht, Angela und Schoser, Benedikt
(2020):
Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?
In: Clinical Neurology and Neurosurgery, Bd. 197, 106122
Eggermann, Katja; Glaeser, Dieter; Abicht, Angela und Wirth, Brunhilde
(2020):
Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy.
In: Medizinische Genetik, Bd. 32, Nr. 3: S. 263-272
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, Bd. 6, Nr. 1, e393
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, Bd. 52, Nr. 02: S. 92-97
Hofmeister, Benedikt; Stülpnagel, Celina von; Berweck, Steffen; Abicht, Angela; Kluger, Gerhard und Weber, Peter
(2020):
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome ( SMARCA2 Mutation)-Due to a POLG1 -Related Effect?
In: Neuropediatrics, Bd. 51, Nr. 1: S. 49-52
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, Bd. 72: S. 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, Bd. 749, 144709
Diebold, Isabel; Schoen, Ulrike; Scharf, Florentine; Benet-Pages, Anna; Laner, Andreas; Holinski-Feder, Elke und Abicht, Angela
(2020):
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.
In: Human Mutation, Bd. 41, Nr. 5: S. 1025-1032
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, Bd. 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, Bd. 23, Nr. 2: S. 254-261
Diebold, Isabel; Schön, Ulrike; Horvath, Rita; Schwartz, Oliver; Holinski-Feder, Elke; Koelbel, Heike und Abicht, Angela
(2019):
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
In: Molecular and Cellular Probes, Bd. 44: S. 14-20
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, Bd. 266, Nr. 5: S. 1107-1112
Ikenberg, Elena; Reilich, Peter; Abicht, Angela; Heller, Corina; Schoser, Benedikt und Walter, Maggie C.
(2019):
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
In: Neuromuscular Disorders, Bd. 29, Nr. 5: S. 392-397
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, Bd. 51, Nr. 1: S. 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, Bd. 26: S. 56-58
Abicht, Angela; Scharf, Florentine; Kleinle, Stephanie; Schön, Ulrike; Holinski-Feder, Elke; Horvath, Rita; Benet-Pages, Anna und Diebold, Isabel
(2018):
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
In: Molecular Genetics & Genomic Medicine
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, Bd. 28, Nr. 6: S. 532-537
McMacken, Grace; Whittaker, Roger G.; Evangelista, Teresinha; Abicht, Angela; Dusl, Marina und Lochmüller, Hanns
(2018):
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
In: Journal of Neurology, Bd. 265, Nr. 1: S. 194-203
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, Bd. 27, Nr. 9: S. 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, Bd. 27, Nr. 5: S. 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, Bd. 139: S. 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, Bd. 18, Nr. 1: S. 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, Bd. 29, Nr. 3: S. 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, Bd. 77, Nr. 1: S. 74-76
[PDF, 78kB]