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Page 1
Quality of life after paediatric ischaemic stroke.
Kornfeld S, Studer M, Winkelbeiner S, Regényi M, Boltshauser E, Steinlin M; Swiss Neuropediatric Stroke group. Kornfeld S, et al. Dev Med Child Neurol. 2017 Jan;59(1):45-51. doi: 10.1111/dmcn.13295. Epub 2016 Oct 21. Dev Med Child Neurol. 2017. PMID: 27767202 Free article.
Impact of stroke volume on motor outcome in neonatal arterial ischemic stroke.
Wiedemann A, Pastore-Wapp M, Slavova N, Steiner L, Weisstanner C, Regényi M, Steinlin M, Grunt S; Swiss Neuropediatric Stroke Registry Group. Wiedemann A, et al. Eur J Paediatr Neurol. 2020 Mar;25:97-105. doi: 10.1016/j.ejpn.2019.10.006. Epub 2019 Nov 1. Eur J Paediatr Neurol. 2020. PMID: 31740218
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: fluss j. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S. Varvagiannis K, et al. Among authors: fluss j. Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28. Neuropediatrics. 2018. PMID: 29284168
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A. Lambert N, et al. Among authors: fluss j. J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1. J Hum Genet. 2018. PMID: 29717186
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW, Anyane-Yeboa K. May HJ, et al. Among authors: fluss j. Genet Med. 2021 Oct;23(10):1912-1921. doi: 10.1038/s41436-021-01222-w. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113010 Free PMC article.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Marconi C, Lemmens L, Masclaux F, Mattioli F, Fluss J, Extermann P, Mendez P, Leuchter RH, Stathaki E, Laurent S, Hammar E, Vannier A, Varvagiannis K, Guipponi M, Sloan-Bena F, Blouin JL, Abramowicz M, Fokstuen S. Marconi C, et al. Among authors: fluss j. Clin Genet. 2021 Sep;100(3):329-333. doi: 10.1111/cge.14004. Epub 2021 Jun 14. Clin Genet. 2021. PMID: 34037256 Free PMC article.
112 results