# Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/exome-wide-rare-variant-analysis-identifies-tuba4a-mutations-associated-with/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Bradley Smith,Nicola Ticozzi,Claudia Fallini,Soragia Athina Gkazi,Simon Topp,Kevin P. Kenna,Emma L. Scotter,Jason Kost,Pamela Keagle,Jack W. Miller,Daniela Calini,Caroline Vance,Eric Danielson,Claire Troakes,Cinzia Tiloca,Safa Al‐Sarraj,Elizabeth Lewis,Andrew King,Claudia Colombrita,Viviana Pensato,Barbara Castellotti,Jacqueline de Belleroche,Frank Baas,Anneloor L.M.A. ten Asbroek,Peter C. Sapp,Diane McKenna‐Yasek,Russell L. McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban‐Pérez,José Luís Muñoz-Blanco,Michael A. Simpson,Wouter van Rheenen,Frank P. Diekstra,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarú,Karen Morrison,Kelly L. Williams,Garth A. Nicholson,Ian P. Blair,Patrick A. Dion,Claire S. Leblond,Guy A. Rouleau,Orla Hardiman,Jan H. Veldink,Leonard H. van den Berg,Ammar Al‐Chalabi,Hardev Pall,Pamela J. Shaw,Martin R. Turner,Kevin Talbot,Franco Taroni,Alberto García‐Redondo,Zheyang Wu,Jonathan D. Glass,Cinzia Gellera,Antonia Ratti,Robert H. Brown,Vincenzo Silani,Christopher E. Shaw,John E. Landers,Sandra D’Alfonso,Letizia Mazzini,Giacomo P. Comi,Roberto Del Bo,Mauro Ceroni,Stella Gagliardi,Giorgia Querin,Cinzia Bertolin |
| Citations | 370 |
| DOI | 10.1016/j.neuron.2014.09.027 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0896627314008472/pdf |
| OpenAlex ID | https://openalex.org/W1973912326 |
| PMID | 25374358 |
| Type | article |
| Year | 2014 |

## Paper authors

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

## Paper journal

- [Neuron](https://scholariq.org/journals/neuron/)

## 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/)
- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)

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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.