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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

86 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
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. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Sivera Mascaró R, García Sobrino T, Horga Hernández A, Pelayo Negro AL, Alonso Jiménez A, Antelo Pose A, Calabria Gallego MD, Casasnovas C, Cemillán Fernández CA, Esteban Pérez J, Fenollar Cortés M, Frasquet Carrera M, Gallano Petit MP, Giménez Muñoz A, Gutiérrez Gutiérrez G, Gutiérrez Martínez A, Juntas Morales R, Ciano-Petersen NL, Martínez Ulloa PL, Mederer Hengstl S, Millet Sancho E, Navacerrada Barrero FJ, Navarrete Faubel FE, Pardo Fernández J, Pascual Pascual SI, Pérez Lucas J, Pino Mínguez J, Rabasa Pérez M, Sánchez González M, Sotoca J, Rodríguez Santiago B, Rojas García R, Turon-Sans J, Vicent Carsí V, Sevilla Mantecón T. Sivera Mascaró R, et al. Among authors: juntas morales r. Neurologia (Engl Ed). 2024 Mar 1:S2173-5808(24)00047-6. doi: 10.1016/j.nrleng.2024.02.008. Online ahead of print. Neurologia (Engl Ed). 2024. PMID: 38431252 Free article.
Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.
Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. Carbayo Á, et al. Among authors: juntas morales r. Brain. 2024 Jul 5;147(7):2357-2367. doi: 10.1093/brain/awae011. Brain. 2024. PMID: 38227807 Free PMC article.
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. J Hum Genet. 2023. PMID: 36959467
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Restrepo-Vera JL, Muñoz-Cabello P, Pérez-Rodon J, Rovira-Moreno E, Codina-Solà M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Neuromuscul Disord. 2023 Jun;33(6):463-467. doi: 10.1016/j.nmd.2023.02.010. Epub 2023 Feb 23. Neuromuscul Disord. 2023. PMID: 37119590
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
Llauradó A, Gratacòs-Viñola M, Rovira-Moreno E, Codina-Solà M, Salvadó M, Sanchez-Tejerina D, Sotoca J, Raguer N, Garcia-Arumi E, Juntas-Morales R. Llauradó A, et al. Muscle Nerve. 2023 Jun;67(6):E22-E24. doi: 10.1002/mus.27788. Epub 2023 Mar 27. Muscle Nerve. 2023. PMID: 36631979 No abstract available.
86 results