Items where authors include "Mora, J.S."

Article

Van Damme, P. orcid.org/0000-0002-4010-2357, Al‐Chalabi, A. orcid.org/0000-0002-4924-7712, Andersen, P.M. et al. (17 more authors) (2024) European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD). European Journal of Neurology, 31 (6). e16264. ISSN 1351-5101

Al Khleifat, A., Iacoangeli, A., Jones, A.R. et al. (42 more authors) (2022) Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Frontiers in Cellular Neuroscience, 16. 1050596. ISSN 1662-5102

Opie-Martin, S., Iacoangeli, A., Topp, S.D. et al. (46 more authors) (2022) The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nature Communications, 13 (1). 6901. ISSN 2041-1723

Al Khleifat, A., Iacoangeli, A., van Vugt, J.J.F.A. et al. (44 more authors) (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. npj Genomic Medicine, 7 (1). 8.

Reichenstein, I., Eitan, C., Diaz-Garcia, S. et al. (42 more authors) (2019) Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Science Translational Medicine, 11 (523). eaav5264. ISSN 1946-6234

Cooper-Knock, J., Moll, T., Ramesh, T. et al. (26 more authors) (2019) Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26 (9). 2298-2306.e5. ISSN 2211-1247

Van Der Spek, R.A., Van Rheenen, W., Pulit, S.L. et al. (34 more authors) (2018) Reconsidering the causality of TIA1 mutations in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 19 (1-2). pp. 1-3. ISSN 2167-8421

Project, M.A.S.C., van Rheenen, W., Pulit, S.L. et al. (36 more authors) (2018) Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. European Journal of Human Genetics, 26 (10). pp. 1537-1546. ISSN 1018-4813

Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J. et al. (32 more authors) (2018) CHCHD10 variants in amyotrophic lateral sclerosis: where Is the evidence? Annals of Neurology , 84 (1). pp. 110-116. ISSN 0364-5134

McLaughlin, R.L., Schijven, D., van Rheenen, W. et al. (433 more authors) (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications, 8. 14774.

Kenna, K.P., van Doormaal, P.T.C., Dekker, A.M. et al. (92 more authors) (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics, 48 (9). pp. 1037-1042. ISSN 1061-4036

Oeckl, P., Jardel, C., Salachas, F. et al. (32 more authors) (2016) Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. pp. 1-10. ISSN 2167-8421