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C. Neuhofer · SciRah

Researcher profile · Semantic Scholar

C. Neuhofer

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C. Neuhofer — researcher profile on SciRah

h-index: 11
Works: 23
Citations: 548

Most-cited papers

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.
K. Reetz, I. Dogan, R. Hilgers, P. Giunti +36 more
2016Lancet Neurology135 citations Open access
Semantic Scholar
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
T. Klopstock, F. Tricta, L. Neumayr, I. Karin +23 more
2019Lancet Neurology110 citations Open access
Semantic Scholar
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
I. Giordano, F. Harmuth, H. Jacobi, B. Paap +24 more
2017Neurology56 citations Open access
Semantic Scholar
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients – An Atlas-Based Volumetric MRI Study
Sonja Schönecker, C. Neuhofer, M. Otto, A. Ludolph +26 more
2018Frontiers in Aging Neuroscience51 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics42 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics26 citations Open access
Semantic Scholar
Sema3a plays a role in the pathogenesis of CHARGE syndrome
Roser Ufartes, Janina Schwenty-Lara, L. Freese, C. Neuhofer +9 more
2018Human Molecular Genetics25 citations Open access
Semantic Scholar
Immunohistochemical expression of stem cell markers in pheochromocytomas/paragangliomas is associated with SDHx mutations.
Lindsey Oudijk, C. Neuhofer, U. Lichtenauer, T. Papathomas +12 more
2015European Journal of Endocrinology22 citations
Semantic Scholar
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
E. Poggio, L. Barazzuol, Andrea Salmaso, Celeste Milani +25 more
2023Genetics in Medicine18 citations Open access
Semantic Scholar
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
Giulia Ascari, F. Peelman, P. Farinelli, Toon Rosseel +27 more
2020Human Mutation17 citations Open access
Semantic Scholar
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Beryll Blickhäuser, S. L. Stenton, C. Neuhofer, Elisa Floride +20 more
2024Brain : a journal of neurology14 citations Open access
Semantic Scholar
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
Julia Schmidt, S. Dreha-Kulaczewski, M. Zafeiriou, Marie-Kristin Schreiber +12 more
2022Frontiers in Cell and Developmental Biology11 citations Open access
Semantic Scholar
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia
C. Neuhofer, Rudolf Funke, B. Wilken, A. Knaus +6 more
2020Molecular Syndromology11 citations Open access
Semantic Scholar
Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders
C. G. Bergner, C. Neuhofer, C. Funke, S. Biskup +4 more
2020Frontiers in Neuroscience5 citations Open access
Semantic Scholar
Development of lipid based depot formulations using interferon-beta-1b as a model protein
C. Neuhofer
20153 citations
Semantic Scholar
LINS1-associated neurodevelopmental disorder
C. Neuhofer, C. Catarino, H. Schmidt, K. Seelos +3 more
2020Neurology: Genetics2 citations Open access
Semantic Scholar
Multimodal and Longitudinal Bioimaging Methods for Characterizing the Progressive Course of Dementia
Sonja Schönecker, C. Neuhofer, M. Otto, A. Ludolph +24 more
2019Frontiers Research Topics2 citations
Semantic Scholar
Treat iron-related childhood-onset neurodegeneration (TIRCON) work package 1: International patient registry for Neurodegeneration with Brain Iron Accumulation (NBIA)
I. Karin, B. Büchner, C. Neuhofer, Clemens Küpper +19 more
20170 citations
Semantic Scholar
A new phenotype of ethylmalonic encephalopathy
C. Neuhofer, Clemens Küpper, I. Dimeo, V. Tiranti +1 more
20170 citations
Semantic Scholar
Atlas-based volumetric MRI analysis of c9orf72 mutation carriers
Sonja Schönecker, C. Neuhofer, J. Diehl-Schmid, M. Otto +6 more
20160 citations
Semantic Scholar
Characterization of Stem Cell Markers in Pheochromocytomas and Paragangliomas
Lindsey Oudijk, C. Neuhofer, U. Lichtenauer, T. Papathomas +12 more
20140 citations
Semantic Scholar
A fashion trend affecting laparoscopy: How to deal with piercings perioperatively
V. Jacobs, C. Neuhofer, M. Kiechle, J. Morrison
20030 citations
Semantic Scholar
Clinical evaluation of a new type of microhysteroscope
V. Jacobs, C. Neuhofer, A. Humbert, H. Schaaf
20020 citations
Semantic Scholar

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