![[höher]](/style/images/multi_up.png)
Eine Ebene höherGruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3
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; 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]