Yasmin Namavar

Research output

Research output per year 2008 2011 2021

• 7 Article
• 1 Comment/Letter to the editor
• 1 Review article
• 1 Phd-Thesis - Research and graduation internal

Research output per year

Research output per year

Search results

• 2021

  Psychiatric phenotypes associated with hyperprolinemia: A systematic review

  Namavar, Y., Duineveld, D. J., Both, G. I. A., Fiksinski, A. M., Vorstman, J. A. S., Verhoeven-Duif, N. M. & Zinkstok, J. R., Jul 2021, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 186, 5, p. 289-317 29 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  12 Citations (Scopus)
• 2012

  Reply: Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

  Namavar, Y., Barth, P. G., Baas, F. & Poll-The, B. T., 2012, In: Brain. 135, 1, p. e200

  Research output: Contribution to journal › Comment/Letter to the editor › Academic
• 2011

  Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

  Namavar, Y., Barth, P. G., Poll-The, B. T. & Baas, F., 2011, In: Orphanet Journal of Rare Diseases. 6, 1, p. 50 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  146 Citations (Scopus)

• Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

  AUTHOR GROUP, Graham Jr., J. M. & van der Knaap, M. S., 2011, In: Brain. 134, Part 1, p. 143-156

  Research output: Contribution to journal › Article › Academic › peer-review
  180 Citations (Scopus)

• Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

  Kasher, P. R., Namavar, Y., van Tijn, P., Fluiter, K., Sizarov, A., Kamermans, M., Grierson, A. J., Zivkovic, D. & Baas, F., 2011, In: Human Molecular Genetics. 20, 8, p. 1574-1584

  Research output: Contribution to journal › Article › Academic › peer-review
  47 Citations (Scopus)

• Pontocerebellar hypoplasia: from gene to disease

  Namavar, Y., 2011, 189 p.

  Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

  Open Access

• TSEN54 mutations cause pontocerebellar hypoplasia type 5

  Namavar, Y., Chitayat, D., Barth, P. G., van Ruissen, F., de Wissel, M. B., Poll-The, B. T., Silver, R. & Baas, F., 2011, In: European journal of human genetics. 19, 6, p. 724-726

  Research output: Contribution to journal › Article › Academic › peer-review
  37 Citations (Scopus)
• 2010

  Molecular and Neuroimaging Findings in Pontocerebellar Hypoplasia Type 2 (PCH2): Is Prenatal Diagnosis Possible?

  Graham, J. M., Spencer, A. H., Grinberg, I., Niesen, C. E., Platt, L. D., Maya, M., Namavar, Y., Baas, F. & Dobyns, W. B., 2010, In: American journal of medical genetics. Part A. 152A, 9, p. 2268-2276

  Research output: Contribution to journal › Article › Academic › peer-review
  26 Citations (Scopus)
• 2008

  Genetica van pontocerebellaire hypoplasie

  Namavar, Y. & Baas, F., 2008, In: Epilepsie. 6, 4, p. 5

  Research output: Contribution to journal › Article › Professional

• tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

  Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nürnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., Höhne, W., Toliat, M. R., Crow, Y. J., Steinlin, M., Voit, T., Roelens, F., Brussel, W., Brockmann, K., & 20 othersKyllerman, M., Boltshauser, E., Hammersen, G., Willemsen, M., Basel-Vanagaite, L., Krägeloh-Mann, I., de Vries, L. S., Sztriha, L., Muntoni, F., Ferrie, C. D., Battini, R., Hennekam, R. C. M., Grillo, E., Beemer, F. A., Stoets, L. M. E., Wollnik, B., Nürnberg, P., Baas, F., Hohne, W. & Krageloh-Mann, I., 2008, In: Nature Genetics. 40, 9, p. 1113-1118

  Research output: Contribution to journal › Article › Academic › peer-review
  201 Citations (Scopus)