# The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/the-c9orf72-expansion-mutation-is-a-common-cause-of-als-ftd-in-europe-and-has-a/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Bradley Smith,Stephen Newhouse,Aleksey Shatunov,Caroline Vance,Simon Topp,Lauren Johnson,Jack W. Miller,Youn‐Bok Lee,Claire Troakes,Kirsten M. Scott,Ashley Jones,Ian C. Gray,Jamie Wright,Tibor Hortobágyi,Safa Al‐Sarraj,Boris Rogelj,John Powell,Michelle K. Lupton,Simon Lovestone,Peter C. Sapp,Markus Weber,Peter J. Nestor,Helenius J. Schelhaas,Anneloor ALM ten Asbroek,Vincenzo Silani,Cinzia Gellera,Franco Taroni,Nicola Ticozzi,Leonard van den Berg,Jan H. Veldink,Philip Van Damme,Wim Robberecht,Pamela J. Shaw,Janine Kirby,Hardev Pall,Karen Morrison,Alex Morris,Jacqueline de Belleroche,J.M.B.V. de Jong,Frank Baas,Peter M. Andersen,John E. Landers,Robert H. Brown,Michael E. Weale,Ammar Al‐Chalabi,Christopher E. Shaw |
| Citations | 232 |
| DOI | 10.1038/ejhg.2012.98 |
| Fields | Medicine,Neuroscience |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/ejhg201298.pdf |
| OpenAlex ID | https://openalex.org/W1974504862 |
| PMID | 22692064 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Nicola Ticozzi](https://scholariq.org/researchers/nicola-ticozzi/)

## Paper journal

- [European Journal of Human Genetics](https://scholariq.org/journals/european-journal-of-human-genetics/)

## Paper primary topic

- [Amyotrophic Lateral Sclerosis Research](https://scholariq.org/topics/amyotrophic-lateral-sclerosis-research/)

## Paper topics

- [Amyotrophic Lateral Sclerosis Research](https://scholariq.org/topics/amyotrophic-lateral-sclerosis-research/)
- [Alzheimer's disease research and treatments](https://scholariq.org/topics/alzheimer-s-disease-research-and-treatments/)
- [Neurological diseases and metabolism](https://scholariq.org/topics/neurological-diseases-and-metabolism/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.