Auflistung nach Autor "Hengel, Holger"

A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia

Hengel, Holger; Schöls, Ludger (2019)

Apoptosis Induction Influences Reovirus Replication and Virulence in Newborn Mice

Hengel, Holger; Dermody, Terence S. (2013)

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Hengel, Holger; Hannan, Shabab B.; Riess, Angelika; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Haack, Tobias; Nägele, Thomas; Schöls, Ludger (2021)

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Hengel, Holger; Grimmel, Mona; Admard, Jakob; Gazou, Anastasia; Sturm, Marc; Schöls, Ludger; Rieß, Olaf; Haack, Tobias (2021)

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Hengel, Holger; Buchert, Rebecca; Bauer, Peter; Sturm, Marc; Jünger, Hendrik; Schöls, Ludger; Haack, Tobias (2019)

Cerebrospinal fluid findings in patients with psychotic symptoms-a retrospective analysis

Vittore-Welliong, Debora; Hengel, Holger; Stefanou, Maria-Ioanna; Hoffmann, Jonatan F.; Klaus, Johannes; Vonderschmitt, Julia; Bombach, Paula; Al Barazi, Hazar; Richter, Janina; Hesse, Klaus; Eckstein, Kathrin N.; Klingberg, Stefan; Wildgruber, Dirk; Rattay, Tim Wilfried; Martin, Pascal Christopher; Çebi, Idil; Tünnerhoff, Johannes; Ehe, Katrin von der; Herrmann, Matthias; Zeltner, Lena (2021)

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Kessler, Christoph; Serna Higuita, Lina María; Wilke, Carlo; Hengel, Holger; Reichbauer, Jennifer; Stransky, Elke; Mengel, David; Martus, Peter; Rattay, Tim Wilfried; Leyva-Gutiérrez, Alejandra; Synofzik, Matthis; Schöls, Ludger; Schüle-Freyer, Rebecca (2022)

Characterization of cognitive impairment in adult polyglucosan body disease

Hengel, Holger; Haack, Tobias (2022)

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity

Hengel, Holger; Martus, Peter; Hübener-Schmid, Jeannette; Synofzik, Matthis; Schöls, Ludger (2022)

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Hengel, Holger; Schöls, Ludger (2019)

Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

Harmuth, Florian; Schöls, Ludger; Hengel, Holger; Rieß, Olaf (2020)

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

Rautenberg, Maren; Hengel, Holger; Wiethoff, Sarah; Schleicher, Erwin; Peter, Andreas; Rattay, Tim Wilfried; Söhn, Anne; Traschütz, Andreas; Röben, Benjamin; Hayer, Stefanie Nicole; Schüle-Freyer, Rebecca; Zeltner, Lena; Haack, Tobias; Schöls, Ludger (2020)

Digital Gait Biomarkers Allow to Capture 1-Year Longitudinal Change in Spinocerebellar Ataxia Type 3

Ilg, Winfried; Hengel, Holger; Synofzik, Matthis; Müller, Björn; Schöls, Ludger (2022)

Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial

Hengel, Holger; Schöls, Ludger (2017)

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Hengel, Holger; Buchert, Rebecca; Sturm, Marc; Haack, Tobias; Schelling, Yvonne; Schöls, Ludger (2020)

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia

Hengel, Holger; Riess, Angelika; Bauer, Peter; Schöls, Ludger (2018)

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Park, Joohyun; Demidov, German; Velic, Ana; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Sturm, Marc; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Hengel, Holger; Hayer, Stefanie Nicole; Rieß, Olaf; Schöls, Ludger; Haack, Tobias (2022)

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Reichbauer, Jennifer; Hengel, Holger; Atasu, Burcu; Lindig, Tobias; Sturm, Marc; Bauer, Peter; Lohmann, Ebba; Söhn, Anne; Rattay, Tim Wilfried; Synofzik, Matthis; Schöls, Ludger; Schüle-Freyer, Rebecca (2017)

Individual Changes in Preclinical Spinocerebellar Ataxia Identified Via Increased Motor Complexity

Ilg, Winfried; Fleszar, Zofia Maria; Schatton, Cornelia; Hengel, Holger; Harmuth, Florian; Bauer, Peter; Giese, Martin Alexander; Schöls, Ludger; Synofzik, Matthis (2016)

Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type

Wilke, Carlo; Mengel, David; Schöls, Ludger; Hengel, Holger; Rakowicz, Maria; Schüle-Freyer, Rebecca; Synofzik, Matthis (2022)

Auflistung nach Autor "Hengel, Holger"

Auflistung nach Autor "Hengel, Holger"

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