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Page 1
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Among authors: phatnani h. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
ALS molecular subtypes are a combination of cellular, genetic, and pathological features learned by deep multiomics classifiers.
O'Neill K, Shaw R, Bolger I; NYGC ALS Consortium; Tam O, Phatnani H, Hammell MG. O'Neill K, et al. Among authors: phatnani h. bioRxiv [Preprint]. 2024 Jul 20:2024.07.19.603731. doi: 10.1101/2024.07.19.603731. bioRxiv. 2024. Update in: Cell Rep. 2025 Mar 25;44(3):115402. doi: 10.1016/j.celrep.2025.115402. PMID: 39651269 Free PMC article. Updated. Preprint.
Access for ALL in ALS: A large-scale, inclusive, collaborative consortium to unlock the molecular and genetic mechanisms of amyotrophic lateral sclerosis.
Berry JD, Paganoni S, Harms MB, Shneider N, Andrews J, Miller TM, Babu S, Sherman AV, Harris BT, Provenzano FA, Phatnani HP, Shefner J, Garret MA, Ladha SS, Tsou AY, Mohan P, Igne C; ALL ALS Consortium; Bowser R. Berry JD, et al. Muscle Nerve. 2024 Dec;70(6):1140-1150. doi: 10.1002/mus.28244. Epub 2024 Sep 18. Muscle Nerve. 2024. PMID: 39295118 Free PMC article. Review.
Single-cell transcriptomic landscape of the neuroimmune compartment in amyotrophic lateral sclerosis brain and spinal cord.
Tuddenham JF, Fujita M, Lee E, Nimmagadda N, Khairallah A, Harbison C, Flowers XE, Coronas-Samano G, Maniatis S, Daly A, Schneider JA, Teich AF, Vonsattel JPG, Sims PA, Elyaman W, Bradshaw EM, Ostrow LW, Phatnani H, Shneider NA, Bennett DA, De Jager PL, Przedborski S, Menon V, Olah M. Tuddenham JF, et al. Among authors: phatnani h. Acta Neuropathol. 2025 Jul 29;150(1):10. doi: 10.1007/s00401-025-02913-3. Acta Neuropathol. 2025. PMID: 40728732 Free PMC article.
Identifying FUS amyotrophic lateral sclerosis disease signatures in patient dermal fibroblasts.
Kumbier K, Roth M, Li Z, Lazzari-Dean J, Waters C, Hammerlindl S, Rinaldi C, Huang P, Korobeynikov VA; New York Genome Center ALS Consortium; Phatnani H, Shneider N, Jacobson MP, Wu LF, Altschuler SJ. Kumbier K, et al. Among authors: phatnani h. Dev Cell. 2024 Aug 19;59(16):2134-2142.e6. doi: 10.1016/j.devcel.2024.05.011. Epub 2024 Jun 14. Dev Cell. 2024. PMID: 38878774 Free article.
Single-cell transcriptomic landscape of the neuroimmune compartment in amyotrophic lateral sclerosis brain and spinal cord.
Tuddenham JF, Fujita M, Khairallah A, Harbison C, Flowers XE, Coronas-Samano G, Maniatis S, Daly A, Schneider JA, Teich AF, Vonsattel JPG, Sims PA, Elyaman W, Bradshaw EM, Phatnani H, Shneider N, Bennett DA, De Jager PL, Przedborski S, Menon V, Olah M. Tuddenham JF, et al. Among authors: phatnani h. bioRxiv [Preprint]. 2024 Nov 14:2024.11.12.623183. doi: 10.1101/2024.11.12.623183. bioRxiv. 2024. Update in: Acta Neuropathol. 2025 Jul 29;150(1):10. doi: 10.1007/s00401-025-02913-3. PMID: 39605399 Free PMC article. Updated. Preprint.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: phatnani h. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, Byrska-Bishop M, Evani US, Narzisi G, Fagegaltier D; NYGC ALS Consortium; Sleegers K, Phatnani H, Knowles DA, Fratta P, Raj T. Humphrey J, et al. Among authors: phatnani h. Nat Neurosci. 2023 Jan;26(1):150-162. doi: 10.1038/s41593-022-01205-3. Epub 2022 Dec 8. Nat Neurosci. 2023. PMID: 36482247
82 results