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Page 1
Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy: A Randomized Clinical Trial With Open-Label Extension.
Adams D, Wixner J, Polydefkis M, Berk JL, Conceição IM, Dispenzieri A, Peltier A, Ueda M, Bender S, Capocelli K, Jay PY, Yureneva E, Obici L; patisiran Global OLE study group. Adams D, et al. JAMA Neurol. 2025 Jan 13. doi: 10.1001/jamaneurol.2024.4631. Online ahead of print. JAMA Neurol. 2025. PMID: 39804640
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. Gérard L, et al. Among authors: delmont e. Eur J Hum Genet. 2024 Dec 26. doi: 10.1038/s41431-024-01781-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39725690
Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.
Berard N, Verschueren A, Fortanier E, Grapperon AM, Kouton L, Rebouh H, Gallard J, Salort-Campana E, Attarian S, Delmont E. Berard N, et al. Among authors: delmont e. Muscle Nerve. 2025 Feb;71(2):208-215. doi: 10.1002/mus.28318. Epub 2024 Dec 12. Muscle Nerve. 2025. PMID: 39668650 Free PMC article.
Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy.
Caballero-Ávila M, Martín-Aguilar L, Pascual-Goñi E, Michael MR, Koel-Simmelink MJA, Höftberger R, Wanschitz J, Alonso-Jiménez A, Armangué T, Baars AE, Carbayo Á, Castek B, Collet-Vidiella R, De Winter J, Del Real MÁ, Delmont E, Diamanti L, Doneddu PE, Hiew FL, Gallardo E, Gonzalez A, Grinzinger S, Horga A, Iglseder S, Jacobs BC, Jauregui A, Killestein J, Pozza EL, Martínez-Martínez L, Nobile-Orazio E, Ortiz N, Pérez-Pérez H, Poppert KN, Ripellino P, Roche JC, Rodriguez de Rivera FJ, Rostasy K, Sparasci D, Tejada-Illa C, Teunissen CCE, Vegezzi E, Xuclà-Ferrarons T, Zach F, Wieske L, Eftimov F, Lleixà C, Querol L. Caballero-Ávila M, et al. Among authors: delmont e. Ann Neurol. 2024 Nov 27. doi: 10.1002/ana.27142. Online ahead of print. Ann Neurol. 2024. PMID: 39601182
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Barbat du Closel L, Bonello-Palot N, Delmont E, Péréon Y, Echaniz-Laguna A, Camdessanché JP, Pakleza AN, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Louis SL, Tard C, Solé G, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Barbat du Closel L, et al. Among authors: delmont e. Eur J Neurol. 2025 Jan;32(1):e16523. doi: 10.1111/ene.16523. Epub 2024 Nov 21. Eur J Neurol. 2025. PMID: 39569692 Free PMC article.
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, Quadrio I, Vidoni L, Bonello-Palot N, Cheillan D. Rochat J, et al. Among authors: delmont e. Genes (Basel). 2024 May 26;15(6):692. doi: 10.3390/genes15060692. Genes (Basel). 2024. PMID: 38927628 Free PMC article.
136 results