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

Year Number of Results
1955 1
1963 1
1964 2
1965 1
1971 1
1972 1
1976 1
1980 1
1983 1
1991 1
1992 2
1993 6
1994 3
1995 2
1996 3
1997 2
1998 3
1999 1
2000 2
2001 1
2002 5
2003 4
2004 2
2005 1
2007 2
2008 2
2009 8
2010 3
2011 4
2012 2
2013 6
2014 8
2015 4
2016 7
2017 9
2018 8
2019 8
2020 5
2021 2
2022 10
2023 7
2024 1

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133 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.
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: bevilacqua j. 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 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.
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.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: bevilacqua j. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
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.
[Preface. Anemia].
Lugon JR, Bevilacqua JL, Canziani ME. Lugon JR, et al. Among authors: bevilacqua jl. J Bras Nefrol. 2014 Mar;36(1 Suppl 1):6. J Bras Nefrol. 2014. PMID: 24770594 Free article. Portuguese. No abstract available.
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
133 results