Pontozerebelläre Hypoplasie (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pontozerebelläre Hypoplasie" in German language version.

refsWebsite
Global rank German rank
3,537th place
429th place
4th place
7th place
low place
low place

nih.gov

ncbi.nlm.nih.gov

  • R. M. Norman: Cerebellar hypoplasia in Werdnig-Hoffmann disease. In: Arch Dis Child. 36, 1961, S. 96–101. PMID 13729575
  • P. G. Barth u. a.: The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. In: Neurology. 45, 1995, S. 311–317. PMID 7854532
  • B. S. Budde, Y. Namavar, P. G. Barth, B. T. Poll-The, G. Nürnberg, C. Becker, F. van Ruissen, M. A. Weterman, K. Fluiter, E. T. te Beek, E. Aronica, M. S. van der Knaap, W. Höhne, M. R. Toliat, Y. J. Crow, M. Steinlin, T. Voit, F. Roelens, W. Brussel, K. Brockmann, M. Kyllerman, E. Boltshauser, G. Hammersen, M. Willemsen, L. Basel-Vanagaite, I. Krägeloh-Mann, L. S. de Vries, L. Sztriha, F. Muntoni, C. D. Ferrie, R. Battini, R. C. Hennekam, E. Grillo, F. A. Beemer, L. M. Stoets, B. Wollnik, P. Nürnberg, F. Baas: tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. In: Nat Genet. 17. Aug 2008. PMID 18711368
  • J. G. Leroy u. a.: Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype. In: Acta Neuropathol. 114, 2007, S. 387–399. PMID 17628812
  • A. Rajab u. a.: A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. In: Neurology. 60, 2003, S. 1664–1667. PMID 12771259
  • R. F. Hevner: Progress on pontocerebellar hypoplasia. In: Acta Neuropathol. 114, 2007, S. 401–402. PMID 17710422 (Übersichtsarbeit)

orpha.net

pch-familie.de