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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
1994 2
1995 1
1997 1
1999 1
2002 2
2003 1
2004 1
2005 1
2007 1
2008 1
2009 5
2010 1
2011 2
2013 2
2014 3
2015 1
2016 4
2017 4
2018 2
2019 4
2020 5
2021 1
2022 4
2023 1
2024 0

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49 results

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Page 1
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: bevilacqua ja. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
Dynamin-2 in nervous system disorders.
González-Jamett AM, Haro-Acuña V, Momboisse F, Caviedes P, Bevilacqua JA, Cárdenas AM. González-Jamett AM, et al. Among authors: bevilacqua ja. J Neurochem. 2014 Jan;128(2):210-23. doi: 10.1111/jnc.12455. Epub 2013 Oct 23. J Neurochem. 2014. PMID: 24102355 Free article. Review.
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. Among authors: bevilacqua ja. 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.
Congenital Nemaline Myopathy with Dense Protein Masses.
Bevilacqua JA, Malfatti E, Labasse C, Brochier G, Madelaine A, Lacène E, Doray B, Laforêt P, Eymard B, Rendu J, Romero NB. Bevilacqua JA, et al. J Neuropathol Exp Neurol. 2022 Mar 29;81(4):304-307. doi: 10.1093/jnen/nlab139. J Neuropathol Exp Neurol. 2022. PMID: 35139532 No abstract available.
Dynamin-2 function and dysfunction along the secretory pathway.
González-Jamett AM, Momboisse F, Haro-Acuña V, Bevilacqua JA, Caviedes P, Cárdenas AM. González-Jamett AM, et al. Among authors: bevilacqua ja. Front Endocrinol (Lausanne). 2013 Sep 18;4:126. doi: 10.3389/fendo.2013.00126. Front Endocrinol (Lausanne). 2013. PMID: 24065954 Free PMC article. Review.
A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
Arriagada-Diaz J, Flores-Muñoz C, Gómez-Soto B, Labraña-Allende M, Mattar-Araos M, Prado-Vega L, Hinostroza F, Gajardo I, Guerra-Fernández MJ, Bevilacqua JA, Cárdenas AM, Bitoun M, Ardiles AO, Gonzalez-Jamett AM. Arriagada-Diaz J, et al. Among authors: bevilacqua ja. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12918. doi: 10.1111/nan.12918. Neuropathol Appl Neurobiol. 2023. PMID: 37317811
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, Acosta I, Urtizberea JA, Lévy N, Bartoli M, Krahn M, Jara L, Caviedes P, Gorokhova S, Bevilacqua JA. Cerino M, et al. Among authors: bevilacqua ja. Genes (Basel). 2022 Jun 16;13(6):1076. doi: 10.3390/genes13061076. Genes (Basel). 2022. PMID: 35741838 Free PMC article.
Toward an objective measure of functional disability in dysferlinopathy.
Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA. Woudt L, et al. Among authors: bevilacqua ja. Muscle Nerve. 2016 Jan;53(1):49-57. doi: 10.1002/mus.24685. Epub 2015 May 23. Muscle Nerve. 2016. PMID: 25900324
49 results