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Page 1
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse J, Nolan M, Thorburn DR, Van Hove JLK, Friederich MW, Love DR, Taylor J, Powell CA, Minczuk M, Snell RG, Lehnert K, Glamuzina E, Jacobsen JC. Poquérusse J, et al. Among authors: nolan m. JIMD Rep. 2023 Jan 22;64(3):223-232. doi: 10.1002/jmd2.12360. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151360 Free PMC article.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: nolan ma. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: nolan ma. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Park JH, Nordström U, Tsiakas K, Keskin I, Elpers C, Mannil M, Heller R, Nolan M, Alburaiky S, Zetterström P, Hempel M, Schara-Schmidt U, Biskup S, Steinacker P, Otto M, Weishaupt J, Hahn A, Santer R, Marquardt T, Marklund SL, Andersen PM. Park JH, et al. Among authors: nolan m. Brain Commun. 2023 Jan 27;5(1):fcad017. doi: 10.1093/braincomms/fcad017. eCollection 2023. Brain Commun. 2023. PMID: 36793789 Free PMC article.
Factors that Facilitate Informal Advance Care Planning Conversations With Family: A Cross-Sectional Survey of Black Adults With Kidney Failure.
Fisher MC, Perrin N, Crews DC, Eneanya ND, Gallo JJ, Hardy BE, Nelson KE, Owusu L, Petchler CM, Saylor MA, Nolan MT. Fisher MC, et al. Among authors: nolan mt. Am J Hosp Palliat Care. 2024 Nov 22:10499091241298280. doi: 10.1177/10499091241298280. Online ahead of print. Am J Hosp Palliat Care. 2024. PMID: 39576270
Performance Assessment of ELISA Using the Trypanosoma cruzi-Specific Antigen Tc323 for the Diagnosis of Chronic Chagas Disease.
Ossowski MS, Gallardo JP, Chadi R, Hernández Y, Fernández M, Marco JD, Triana-Chavez O, Nolan MS, Pech May A, Ramsey JM, Villar JC, Agüero F, Potenza M, Gómez KA. Ossowski MS, et al. Among authors: nolan ms. ACS Infect Dis. 2024 Nov 16. doi: 10.1021/acsinfecdis.4c00784. Online ahead of print. ACS Infect Dis. 2024. PMID: 39548973
Author Correction: The geology and evolution of the Near-Earth binary asteroid system (65803) Didymos.
Barnouin O, Ballouz RL, Marchi S, Vincent JB, Agrusa H, Zhang Y, Ernst CM, Pajola M, Tusberti F, Lucchetti A, Daly RT, Palmer E, Walsh KJ, Michel P, Sunshine JM, Rizos JL, Farnham TL, Richardson DC, Parro LM, Murdoch N, Robin CQ, Hirabayashi M, Kahout T, Asphaug E, Raducan SD, Jutzi M, Ferrari F, Hasselmann PHA, CampoBagatin A, Chabot NL, Li JY, Cheng AF, Nolan MC, Stickle AM, Karatekin O, Dotto E, Della Corte V, Mazzotta Epifani E, Rossi A, Gai I, Deshapriya JDP, Bertini I, Zinzi A, Trigo-Rodriguez JM, Beccarelli J, Ivanovski SL, Brucato JR, Poggiali G, Zanotti G, Amoroso M, Capannolo A, Cremonese G, Dall'Ora M, Ieva S, Impresario G, Lavagn M, Modenini D, Palumbo P, Perna D, Pirrotta S, Tortora P, Zannoni M, Rivkin AS. Barnouin O, et al. Among authors: nolan mc. Nat Commun. 2024 Nov 15;15(1):9927. doi: 10.1038/s41467-024-54189-y. Nat Commun. 2024. PMID: 39548067 Free PMC article. No abstract available.
1,549 results