- Title
- Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
- Creators
- Matthis Synofzik - Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, GermanyRebecca Schüle - Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, GermanyMartin Schulze - Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyJanina Gburek-Augustat - Department of Neuropediatrics, University of Tübingen, Tübingen, GermanyRoland Schweizer - Department of General Pedatrics, Pediatric Endocrinology and Diabetology, University of Tübingen, Tübingen, GermanyAnja Schirmacher - Department of Sleep Medicine and Neuromuscular Disorders, Neurology, University Hospital Münster, Münster, GermanyIngeborg Krägeloh-Mann - Department of Neuropediatrics, University of Tübingen, Tübingen, GermanyMichael Gonzalez - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USAPeter Young - Department of Sleep Medicine and Neuromuscular Disorders, Neurology, University Hospital Münster, Münster, GermanyStephan Züchner - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USALudger Schöls - Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, GermanyPeter Bauer - Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
- Publication Details
- Orphanet journal of rare diseases, Vol.9(1), pp.57-57
- Publisher
- BioMed Central
- Academic Unit
- Leadership Department; Miller School of Medicine; John P. Hussman Institute for Human Genomics
- Language
- English
- Resource Type
- Journal article
- PMID
- 24742043
- PMCID
- PMC4021831
- Record Identifier
- 991031559110102976
Journal article
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
Orphanet journal of rare diseases, Vol.9(1), pp.57-57
2014-04-17
PMCID: PMC4021831
PMID: 24742043
Metrics
32 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.52 Neurodegenerative Diseases
- 1.52.951 Huntington's Disease
- Web Of Science research areas
- Genetics & Heredity
- Medicine, Research & Experimental
- ESI research areas
- Clinical Medicine
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites