Publicaciones científicas

Lopriore P, Ünlütürk Z, Klopstock T, Karaa A, Rouzier C, Domínguez-González C, Lamperti C, Mancuso M; Twinkle-Related Disorders International Consortium for Trial Readiness (TReDIC); Cecchi G, Montano V, Siciliano G, Nicoletta V, Maioli M, Primiano G, Servidei S, La Morgia C, Carelli V, Valentino...

Año publicación:

2026

Número de revista:

Neurology vol. 106 n. 3

https://www.neurology.org/doi/full/10.1212/WNL.0000000000214401

Artículo

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Autor/es:

Bermejo-Guerrero L, Restrepo-Vera JL, Martin-Jimenez P, Navarro-Riquelme M, Garrido-Moraga R, Ochoa LE, González-Quintana A, Hernandez-Lain A, Castillo-Villalba J, Morís G, Muelas N, García-Arumí E, González V, Martínez-Sáez E, Vesperinas A, Llansó L, Juntas-Morales R, Paradas C, Kapetanovic S,...

Año publicación:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 2

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200365

Artículo

Clinical Implications of Aberrant Retinoblastoma Signaling in Patients With Grade 4 IDH-Mutant Astrocytoma: A Retrospective Cohort Study.

Autor/es:

Maqbool MA, Jenkins RB, Ida CM, Burns TC, Drucker KL, Kollmeyer TM, Lachance DH, Raghunathan A, Vaubel RA, Giannini C, Decker PA, Eckel-Passow JE, Kizilbash SH.

Año publicación:

2026

Número de revista:

Neurology vol. 106 n. 2

https://www.neurology.org/doi/full/10.1212/WNL.0000000000214478

Artículo

Clinical Insights Into CASPR1 and CASPR1/Contactin-1 Complex Autoimmune Nodopathies.

Autor/es:

Paramasivan NK, Basal E, LaFrance-Corey RG, Arlt FA, Klein CJ, Swart G, Mozammel A, Mauermann ML, Dyck PJB, Berini SE, Engelstad J, Bucelli R, Magda P, Pniak E, Nagar CP, Crockett CD, McKeon A, Mills JR, Dubey D.

Año publicación:

2026

Número de revista:

Neurology vol. 106 n. 5

https://www.neurology.org/doi/full/10.1212/WNL.0000000000214403

Una iniciativa de:

Buscador

Characterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey.

Characterizing Extreme Phenotypes for Pain Catastrophizing in Persons With Chronic Pain Following Mild to Severe Traumatic Brain Injury Requiring Inpatient Rehabilitation: A NIDILRR and VA TBI Model Systems Collaborative Project.

Chasing the New Dragon: Toxic Spongiform Leukoencephalopathy With Chronic Fentanyl Inhalation.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

Cien años de trabajo social en Chile y Latinoamérica: historia, heridas y horizontes.

Circulating Biomarkers of Neurodegeneration and All-Cause and Dementia-Specific Mortality.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Clinical Implications of Aberrant Retinoblastoma Signaling in Patients With Grade 4 IDH-Mutant Astrocytoma: A Retrospective Cohort Study.

Clinical Insights Into CASPR1 and CASPR1/Contactin-1 Complex Autoimmune Nodopathies.

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