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Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rötig A, Funalot B, Desguerre I. Mansour-Hendili L, et al. Among authors: heron b. Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024. Front Genet. 2024. PMID: 38348452 Free PMC article.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. Tessarech M, et al. Among authors: heron b. Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288683 Free article.
Corrigendum: 'Implementation of routine genomic surveillance provided insights into a locally acquired outbreak caused by a rare clade of Salmonella enterica serovar Enteritidis in Queensland, Australia'.
Rathnayake IU, Graham RMA, Bayliss J, Staples M, Micalizzi G, Ariotti L, Cover L, Heron B, Graham T, Stafford R, Rubenach S, D'Addona A, Jennison AV. Rathnayake IU, et al. Among authors: heron b. Microb Genom. 2023 Aug;9(8):mgen001096. doi: 10.1099/mgen.0.001096. Microb Genom. 2023. PMID: 37589550 Free PMC article. No abstract available.
Catatonia and genetic variant in GABA receptor: A case report involving GABRB2.
Legrand A, Moyal M, Deschamps C, Louveau C, Iftimovici A, Krebs MO, Héron B, Keren B, Afenjar A, Chaumette B. Legrand A, et al. Among authors: heron b. Schizophr Res. 2024 Jan;263:191-193. doi: 10.1016/j.schres.2023.07.017. Epub 2023 Jul 28. Schizophr Res. 2024. PMID: 37517920 No abstract available.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Freihuber C, et al. Among authors: heron b. Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. Orphanet J Rare Dis. 2023. PMID: 37480097 Free PMC article.
Implementation of routine genomic surveillance provided insights into a locally acquired outbreak caused by a rare clade of Salmonella enterica serovar Enteritidis in Queensland, Australia.
Rathnayake IU, Graham RMA, Bayliss J, Staples M, Micalizzi G, Ariotti L, Cover L, Heron B, Graham T, Stafford R, Rubenach S, D'Addona A, Jennison AV. Rathnayake IU, et al. Among authors: heron b. Microb Genom. 2023 Jul;9(7):mgen001059. doi: 10.1099/mgen.0.001059. Microb Genom. 2023. PMID: 37459172 Free PMC article.
136 results