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Year Number of Results
2008 1
2009 3
2010 6
2011 6
2012 5
2013 6
2014 6
2015 6
2016 3
2017 5
2018 2
2019 5
2020 4
2021 3
2022 3
2023 2
2024 1

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60 results

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Page 1
Seeding competent TDP-43 persists in human patient and mouse muscle.
Lynch EM, Pittman S, Daw J, Ikenaga C, Chen S, Dhavale DD, Jackrel ME, Ayala YM, Kotzbauer P, Ly CV, Pestronk A, Lloyd TE, Weihl CC. Lynch EM, et al. bioRxiv [Preprint]. 2024 Apr 4:2024.04.03.587918. doi: 10.1101/2024.04.03.587918. bioRxiv. 2024. PMID: 38617354 Free PMC article. Preprint.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS. Mah-Som AY, et al. Am J Hum Genet. 2023 Nov 2;110(11):1959-1975. doi: 10.1016/j.ajhg.2023.10.007. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883978 Free PMC article.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
VCP suppresses proteopathic seeding in neurons.
Zhu J, Pittman S, Dhavale D, French R, Patterson JN, Kaleelurrrahuman MS, Sun Y, Vaquer-Alicea J, Maggiore G, Clemen CS, Buscher WJ, Bieschke J, Kotzbauer P, Ayala Y, Diamond MI, Davis AA, Weihl C. Zhu J, et al. Mol Neurodegener. 2022 Apr 12;17(1):30. doi: 10.1186/s13024-022-00532-0. Mol Neurodegener. 2022. PMID: 35414105 Free PMC article.
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V; VCP Standards of Care Working Group. Korb M, et al. Orphanet J Rare Dis. 2022 Jan 29;17(1):23. doi: 10.1186/s13023-022-02172-5. Orphanet J Rare Dis. 2022. PMID: 35093159 Free PMC article. Review.
Neuronal VCP loss of function recapitulates FTLD-TDP pathology.
Wani A, Zhu J, Ulrich JD, Eteleeb A, Sauerbeck AD, Reitz SJ, Arhzaouy K, Ikenaga C, Yuede CM, Pittman SK, Wang F, Li S, Benitez BA, Cruchaga C, Kummer TT, Harari O, Chou TF, Schröder R, Clemen CS, Weihl CC. Wani A, et al. Cell Rep. 2021 Jul 20;36(3):109399. doi: 10.1016/j.celrep.2021.109399. Cell Rep. 2021. PMID: 34289347 Free PMC article.
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C, Findlay AR, Seiffert M, Peck A, Peck N, Johnson NE, Statland JM, Weihl CC. Ikenaga C, et al. Orphanet J Rare Dis. 2020 Sep 29;15(1):267. doi: 10.1186/s13023-020-01551-0. Orphanet J Rare Dis. 2020. PMID: 32993728 Free PMC article.
60 results