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Zeitschriftenartikel
Schaub, Annalisa 
ORCID: https://orcid.org/0000-0002-0408-5297; Erdmann, Hannes ORCID: https://orcid.org/0000-0002-2620-1850; Scholz, Veronika; Timmer, Manuela; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Günther, Rene ORCID: https://orcid.org/0000-0003-0329-5644; Reilich, Peter ORCID: https://orcid.org/0000-0002-2464-0681; Abicht, Angela und Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133
(25. Juni 2024):
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
In: Journal of Neurology, Bd. 271: S. 5804-5812
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-0408-5297; Erdmann, Hannes ORCID: https://orcid.org/0000-0002-2620-1850; Scholz, Veronika; Timmer, Manuela; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Günther, Rene ORCID: https://orcid.org/0000-0003-0329-5644; Reilich, Peter ORCID: https://orcid.org/0000-0002-2464-0681; Abicht, Angela und Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133
(25. Juni 2024):
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
In: Journal of Neurology, Bd. 271: S. 5804-5812
[PDF, 1MB]
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
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
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, Bd. 31, Nr. 2: S. 123-133
Mera-Adasme, Raúl; Erdmann, Hannes; Bereźniak, Tomasz und Ochsenfeld, Christian
(2016):
Destabilization of the metal site as a hub for the pathogenic mechanism of five ALS-linked mutants of copper, zinc superoxide dismutase.
In: Metallomics, Bd. 8, Nr. 10: S. 1141-1150