Pretraga

Rezultati

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies - a genotype-phenotype correlation study [2008]

Dierick, Ines; Baets, Jonathan; Irobi, Joy; Milić-Rašić, Vedrana M.

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)

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

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

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

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)

Dopaminergic modulation of high-level cognition in Parkinson's disease: the role of the prefrontal cortex revealed by PET [2002]

Cools, R; Stefanova, Elka D ; Barker, RA; Robbins, TW; Owen, AM

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

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