Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

82 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: paradas c. 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.
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: paradas 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.
Lessons learned from a sporadic FUSopathy in a young man: a case report.
García-Roldán E, Rivas-Infante E, Medina-Rodríguez M, Arriola-Infante JE, Rodrigo-Herrero S, Paradas C, Rábano-Gutiérrez A, Franco-Macías E. García-Roldán E, et al. Among authors: paradas c. BMC Neurol. 2023 Feb 2;23(1):55. doi: 10.1186/s12883-023-03082-0. BMC Neurol. 2023. PMID: 36732691 Free PMC article.
Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells.
Bobadilla Muñoz M, Orbe J, Abizanda G, Machado FJD, Vilas A, Ullate-Agote A, Extramiana L, Baraibar Churio A, Aranguren XL, Cantero G, Sáinz Amillo N, Rodríguez JA, Ramos García L, Romero Riojas JP, Vallejo-Illarramendi A, Paradas C, López de Munain A, Páramo JA, Prósper F, Pérez-Ruiz A. Bobadilla Muñoz M, et al. Among authors: paradas c. Front Cell Dev Biol. 2023 May 9;11:1128534. doi: 10.3389/fcell.2023.1128534. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37228645 Free PMC article.
Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.
Ortiz-Vitali JL, Wu J, Xu N, Shieh AW, Niknejad N, Takeuchi M, Paradas C, Lin C, Jafar-Nejad H, Haltiwanger RS, Wang SH, Darabi R. Ortiz-Vitali JL, et al. Among authors: paradas c. Mol Ther Nucleic Acids. 2023 Aug 2;33:683-697. doi: 10.1016/j.omtn.2023.07.037. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37650119 Free PMC article.
The Iberian Roma Population Variant Server (IRPVS).
Mavillard F, Perez-Florido J, Ortuño FM, Valladares A, Álvarez-Villegas ML, Roldán G, Carmona R, Soriano M, Susarte S, Fuentes P, López-López D, Nuñez-Negrillo AM, Carvajal A, Morgado Y, Arteaga D, Ufano R, Mir P, Gamella JF, Dopazo J, Paradas C, Cabrera-Serrano M. Mavillard F, et al. Among authors: paradas c. J Genet Genomics. 2024 Mar 26:S1673-8527(24)00059-6. doi: 10.1016/j.jgg.2024.03.006. Online ahead of print. J Genet Genomics. 2024. PMID: 38548101 No abstract available.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F, Serrano-Lorenzo P, Bermejo-Guerrero L, Blázquez A, Quesada-Espinosa JF, Amigo J, Minguez P, Ayuso C, García-Arumí E, Muelas N, Jaijo T, Nascimento A, Galán-Rodriguez B, Paradas C, Arenas J, Carracedo A, Martí R, Martín MA, Domínguez-González C; for TK2d Spanish-Group. Ceballos F, et al. Among authors: paradas c. Neurol Genet. 2024 Mar 25;10(2):e200138. doi: 10.1212/NXG.0000000000200138. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38544965 Free PMC article.
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, 't Hoen PAC, Athanasiou D, Baker SA, Sakellariou P, Paliouras G, D'Angelo C, Horvath R, Mancuso M, van der Beek N, Kornblum C, Kirschner J, Pareyson D, Bassez G, Blacas L, Jacoupy M, Eng C, Lamy F, Plançon JP, Haberlova J, Brusse E, Hoeijmakers JGJ, de Visser M, Claeys KG, Paradas C, Toscano A, Silani V, Gyenge M, Reviers E, Hamroun D, Vroom E, Wilkinson MD, Lochmuller H, Evangelista T. Atalaia A, et al. Among authors: paradas c. Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3. Orphanet J Rare Dis. 2024. PMID: 38355534 Free PMC article. Review.
Correction to: 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: paradas c. J Neurol. 2024 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
82 results