# Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/association-of-variants-in-the-i-sptlc1-i-gene-with-juvenile-amyotrophic-lateral/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Janel O. Johnson,Ruth Chia,Danny E. Miller,Rachel Li,Ravindran Kumaran,Yevgeniya Abramzon,Nada F. Alahmady,Alan E. Renton,Simon Topp,J. Raphael Gibbs,Mark Cookson,Marya S. Sabir,Clifton L. Dalgard,Claire Troakes,Ashley R. Jones,Aleksey Shatunov,Alfredo Iacoangeli,Ahmad Al Khleifat,Nicola Ticozzi,Vincenzo Silani,Cinzia Gellera,Ian P. Blair,Carol Dobson‐Stone,John B. Kwok,Emily Bonkowski,Robin Palvadeau,Pentti J. Tienari,Karen Morrison,Pamela J. Shaw,Ammar Al‐Chalabi,Robert H. Brown,Andrea Calvo,Gabriele Mora,Hind Al-Saif,Marc Gotkine,Fawn Leigh,Irene J. Chang,Seth J. Perlman,Ian A. Glass,Anna I. Scott,Christopher E. Shaw,A. Nazlı Başak,John E. Landers,Adriano Chiò,Thomas O. Crawford,Bradley Smith,Bryan J. Traynor,Bradley Smith,Nicola Ticozzi,Claudia Fallini,Athina Soragia Gkazi,Simon Topp,Emma L. Scotter,Kevin P. Kenna,Pamela Keagle,Cinzia Tiloca,Caroline Vance,Claire Troakes,Claudia Colombrita,Andrew King,Viviana Pensato,Barbara Castellotti,Frank Baas,Anneloor L.M.A. ten Asbroek,Diane McKenna‐Yasek,Russell L. McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban‐Pérez,Zorica Stević,Sandra D’Alfonso,Letizia Mazzini,Giacomo P. Comi,Roberto Del Bo,Mauro Ceroni,Stella Gagliardi,Giorgia Querin,Cinzia Bertolin,Wouter van Rheenen,Rosa Rademakers,Marka van Blitterswijk,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarú,Kelly L. Williams,Garth A. Nicholson,Ian P. Blair,Claire Leblond-Manry,Guy A. Rouleau,Orla Hardiman,Karen Morrison,Jan H. Veldink,Leonard H. van den Berg,Ammar Al‐Chalabi,Hardev Pall,Pamela J. Shaw,Martin R. Turner |
| Citations | 85 |
| DOI | 10.1001/jamaneurol.2021.2598 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine,Neuroscience |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://jamanetwork.com/journals/jamaneurology/articlepdf/2783665/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdf |
| OpenAlex ID | https://openalex.org/W3196317695 |
| PMID | 34459874 |
| Type | article |
| Year | 2021 |

## Paper authors

- [Nicola Fini](https://scholariq.org/researchers/nicola-fini/)

## Paper journal

- [JAMA Neurology](https://scholariq.org/journals/jama-neurology/)

## 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/)
- [Sphingolipid Metabolism and Signaling](https://scholariq.org/topics/sphingolipid-metabolism-and-signaling/)
- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)

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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.