Christiane Neuhofer - Concepedia

Author

Christiane Neuhofer

Ludwig-Maximilians-Universität München ORCID

Also Known As

C M Neuhofer, C Neuhofer, Christiane M Neuhofer, Christiane M. Neuhofer, Christiane Michaela Neuhofer, Christiane Neuhofer, Dagmar Timmann

Publications

728

Citations

H-Index

Concepts

All Affiliations

Ludwig-Maximilians-Universität München German Center for Neurodegenerative Diseases Universitätsmedizin Göttingen Munich Cluster for Systems Neurology University of Göttingen

About

Christiane Neuhofer is an author at Ludwig-Maximilians-Universität München specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	357
2	Natural Sciences	1	1	28
3	Public Health	1	1	22
4	Social Sciences	1	1	19
5	Biology	1	1	22

Christiane Neuhofer

Publications

621

Citations

H-Index

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	Year	Citations
Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study Kathrin Reetz, Imis Dogan, R.-D Hilgers, The Lancet Neurology Neurodegenerative DiseasesNeurobiology Of DiseaseProgression CharacteristicsNeurological DisorderNeuroepidemiology	2016	150
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study Thomas Klopstock, Fernando Tricta, Lynne Neumayr, The Lancet Neurology Neurodegenerative DiseasesPantothenate Kinase-associated NeurodegenerationOpen-label Extension StudyMedicineNeuropharmacology	2019	138
Delineating <i>MT-ATP6</i> -associated disease Claudia Stendel, Christiane Neuhofer, Elisa Floride, Neurology Genetics	2020	104
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia Ilaria Giordano, Florian Harmuth, Heike Jacobi, Neurology	2017	58
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients – An Atlas-Based Volumetric MRI Study Sonja Schönecker, Christiane Neuhofer, Markus Otto, Frontiers in Aging Neuroscience	2018	54
Sema3a plays a role in the pathogenesis of CHARGE syndrome Roser Ufartes, Janina Schwenty‐Lara, Luisa Freese, Human Molecular Genetics Charge Syndrome SuggestingEpigenetic ChangeGeneticsEpigeneticsCharge Syndrome	2018	28
Immunohistochemical expression of stem cell markers in pheochromocytomas/paragangliomas is associated with SDHx mutations Lindsey Oudijk, Christiane Neuhofer, U Lichtenauer, European Journal of Endocrinology	2015	24
Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility Giulia Ascari, Frank Peelman, Pietro Farinelli, Human Mutation GeneticsFounder AllelePathologyMolecular GeneticsDisease Gene Identification	2020	22
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Genetics in Medicine Neurodevelopmental DisordersVariable Neurodevelopmental DisordersBehavioral SymptomsMendelian DisorderGenetic Disorder	2023	19
A Novel Mutation in <b><i>PIGA</i></b> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia Christiane Neuhofer, Rudolf Funke, Bernd Wilken, Molecular Syndromology	2020	12

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