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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;

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

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

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

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

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;

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study   [2010]

Biegstraaten, Marieke; Mengel, Eugen; Maródi, Laszlo; Petakov, Milan ; Niederau, Claus; Giraldo, Pilar; Hughes, Derralyn; Mrsic, Mirando; Mehta, Atul; Hollak, Carla E. M.;
van, Schaik Ivo N.;

FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?   [2025]

Lass, Joshua; ...; Milovanovic, Andona ; ...; Dragasevic-Miskovic, Natasa; ...; (broj, koautora 18)

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

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

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

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

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

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2   [2006]

Verhoeven, Kristien; Milić-Rašić, Vedrana

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