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Year Number of Results
2006 2
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2011 2
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Page 1
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. Syeda SB, et al. Among authors: catapano f. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041679 Free PMC article.
T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy.
Anthony K, Ala P, Catapano F, Meng J, Domingos J, Perry M, Ricotti V, Maresh K, Phillips LC, Servais L, Seferian AM, De Lucia S, de Groot I, Krom YD, Verschuuren JGM, Niks EH, Straub V, Guglieri M, Voit T, Morgan J, Muntoni F. Anthony K, et al. Among authors: catapano f. Hum Gene Ther. 2023 May;34(9-10):439-448. doi: 10.1089/hum.2022.166. Epub 2023 Feb 24. Hum Gene Ther. 2023. PMID: 36453228 Free article.
Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect.
Zhou H, Hong Y, Scoto M, Thomson A, Pead E, MacGillivray T, Hernandez-Gerez E, Catapano F, Meng J, Zhang Q, Hunter G, Shorrock HK, Ng TK, Hamida A, Sanson M, Baranello G, Howell K, Gillingwater TH, Brogan P, Thompson DA, Parson SH, Muntoni F. Zhou H, et al. Among authors: catapano f. J Clin Invest. 2022 Nov 1;132(21):e153430. doi: 10.1172/JCI153430. J Clin Invest. 2022. PMID: 36099045 Free PMC article.
56 results