Items where authors include "Polak, M."

Article

Groeneweg, S., van Geest, F.S. orcid.org/0000-0002-6960-5775, Martín, M. et al. (119 more authors) (2025) Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nature Communications, 16 (1). 2479. ISSN 2041-1723

Ross, J., Fridman, M., Kelepouris, N. orcid.org/0000-0003-2445-2338 et al. (7 more authors) (2023) Factors associated with response to growth hormone in pediatric growth disorders: results of a 5-year registry analysis. Journal of the Endocrine Society, 7 (5). bvad026. ISSN 2472-1972

Dewan, R. orcid.org/0000-0002-7611-7032, Chia, R. orcid.org/0000-0002-4709-7423, Ding, J. et al. (469 more authors) (2021) Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Neuron, 109 (3). 448-460.e4. ISSN 0896-6273

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

Smith, B.N., Ticozzi, N., Fallini, C. et al. (63 more authors) (2014) Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron, 84 (2). pp. 324-331. ISSN 0896-6273