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Research outputs

Neurofilament light chain and oligoclonal bands are prognostic biomarkers in radiologically isolated syndrome   [2018]

Matute-Blanch, Clara; Villar, Luisa M.; Álvarez-Cermeño, José C.; Rejdak, Konrad; Evdoshenko, Evgeniy; Makshakov, Gleb; Nazarov, Vladimir; Lapin, Sergey; Midaglia, Luciana; Vidal-Jordana, Angela;
Drulović, Jelena ; García-Merino, Antonio; Sánchez-López, Antonio J.; Havrdova, Eva; Saiz, Albert; Llufriu, Sara; Alvarez-Lafuente, Roberto; Schroeder, Ina; Zettl, Uwe K.; Galimberti, Daniela; Ramió-Torrentà, Lluís; Robles, René; Quintana, Ester; Hegen, Harald; Deisenhammer, Florian; Río, Jordi; Tintoré, Mar; Sánchez, Alex; Montalban, Xavier; Comabella, Manuel;

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease   [2022]

Trinh, Joanne; ...; Kostic, Vladimir K; ...; (broj, koautora 27)

Patients with focal arm dystonia have increased sensitivity to slow-frequency repetitive TMS of the dorsal premotor cortex   [2003]

Siebner, HR; Filipovic, SR  ; Rowe, JB; Cordivari, C; Gerschlager, W; Rothwell, JC; Frackowiak, RSJ; Bhatia, KP

NLRP3 inflammasome is associated with the response to IFN-β in patients with multiple sclerosis   [2015]

Malhotra, Sunny; Río, Jordi; Urcelay, Elena; Nurtdinov, Ramil; Bustamante, Marta F.; Fernández, Oscar; Oliver, Begoña; Zettl, Uwe; Brassat, David; Killestein, Joep;
Lechner-Scott, Jeannette; Drulović, Jelena ; Chan, Andrew; Martinelli-Boneschi, Filippo; García-Merino, Antonio; Montalban, Xavier; Comabella, Manuel;

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes   [2008]

Mihaylova, Violeta; Milić Rašić, Vedrana; Müller, Juliane S.; Vichelz, Juan

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD   [2025]

Cortese, Andrea; ...; Perić, Stojan  ; ...; (broj koautora 81)

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights   [2019]

Johnstone, Devon L; ...; Tarailo-Graovac, Maja; ...; (broj, koautora 53)

CHD2 variants are a risk factor for photosensitivity in epilepsy   [2015]

Galizia, Elizabeth C; ...; Jocic-Jakubi, Bosanka G; ...; (broj, koautora 47)

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy   [2025]

Armirola-Ricaurte, Camila; ...; Tomic, Aleksandra; ...; Milic-Rasic, Vedrana; (broj, koautora 20)

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