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Year Number of Results
1986 1
1987 2
1989 1
1998 1
2001 1
2003 7
2004 6
2005 4
2006 1
2007 1
2008 5
2009 2
2010 3
2011 5
2012 7
2013 8
2014 6
2015 3
2016 5
2017 8
2018 6
2019 9
2020 5
2021 4
2022 6
2023 3
2024 2

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96 results

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Page 1
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: longman c. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
Congenital muscular dystrophy.
Mercuri E, Longman C. Mercuri E, et al. Among authors: longman c. Pediatr Ann. 2005 Jul;34(7):560-2, 564-8. doi: 10.3928/0090-4481-20050701-13. Pediatr Ann. 2005. PMID: 16092630 Review. No abstract available.
A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. Meerschaut I, et al. Among authors: longman c. Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18. Genet Med. 2020. PMID: 31316167 Free article.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G. Mroczek M, et al. Among authors: longman c. J Med Genet. 2022 Nov;59(11):1069-1074. doi: 10.1136/jmedgenet-2021-108341. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393337 Free PMC article.
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.
Hamilton MJ, Atalaia A, McLean J, Cumming SA, Evans JJ, Ballantyne B, Jampana R, The Scottish Myotonic Dystrophy Consortium, Longman C, Livingston E, van der Plas E, Koscik T, Nopoulos P, Farrugia ME, Monckton DG. Hamilton MJ, et al. Among authors: longman c. Neuromuscul Disord. 2022 May;32(5):377-389. doi: 10.1016/j.nmd.2022.02.003. Epub 2022 Feb 14. Neuromuscul Disord. 2022. PMID: 35361525 Free article.
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: longman c. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
Oliwa A, Hocking C, Hamilton MJ, McLean J, Cumming S, Ballantyne B, Jampana R, Longman C, Monckton DG, Farrugia ME; Scottish Myotonic Dystrophy Consortium. Oliwa A, et al. Among authors: longman c. Neuromuscul Disord. 2022 Dec;32(11-12):893-902. doi: 10.1016/j.nmd.2022.09.005. Epub 2022 Sep 24. Neuromuscul Disord. 2022. PMID: 36207221 Free article.
The prevalence of faecal incontinence in myotonic dystrophy type 1.
Petty RKH, Eugenicos MP, Hamilton MJ, Farrugia ME, Robb Y, Ballantyne R, Gregory H, McWilliam C, Longman C. Petty RKH, et al. Among authors: longman c. Neuromuscul Disord. 2019 Jul;29(7):562-566. doi: 10.1016/j.nmd.2019.05.009. Epub 2019 Jun 7. Neuromuscul Disord. 2019. PMID: 31266721
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.
Pilo CA, Baffi TR, Kornev AP, Kunkel MT, Malfavon M, Chen DH, Rossitto LA, Chen DX, Huang LC, Longman C, Kannan N, Raskind WH, Gonzalez DJ, Taylor SS, Gorrie G, Newton AC. Pilo CA, et al. Among authors: longman c. Sci Signal. 2022 Sep 27;15(753):eabk1147. doi: 10.1126/scisignal.abk1147. Epub 2022 Sep 27. Sci Signal. 2022. PMID: 36166510 Free PMC article.
The phenotypic and genotypic features of a Scottish cohort with McArdle disease.
Gandhi SE, Longman C, Petty RKH, Brennan KM, Stewart W, Kinch K, Töpf A, Straub V, Quinlivan R, Farrugia ME. Gandhi SE, et al. Among authors: longman c. Neuromuscul Disord. 2021 Aug;31(8):695-700. doi: 10.1016/j.nmd.2021.05.009. Epub 2021 May 30. Neuromuscul Disord. 2021. PMID: 34215481
96 results