Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Annemarie Schwan"'
Autor:
Tobias Bartolomaeus, Alejandro Leal, Katharina Schoner, Ilona Krey, Rami Abou Jamra, Luis Bermúdez-Guzmán, Steffen Syrbe, Helga Rehder, Susanna Schubert, Christian Roth, Sonja Neuser, Annemarie Schwan, Margit Plassmann, Maximilian Radtke, Diana Le Duc, Stefan Rohde, Bernt Popp, Jan Henje Döring
Publikováno v:
European Journal of Human Genetics
Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot–Marie–Tooth disease. To date, only postnatal descriptions exist. We present the first prenatal diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::186f10532342877c5874b9df609f229b
https://doi.org/10.1038/s41431-021-00982-y
https://doi.org/10.1038/s41431-021-00982-y
Autor:
Heinrich Binder, Dagmar Brummer, Burkhard Alber, Ingo Uttner, Albert C. Ludolph, Joerg T. Epplen, Thomas Meyer, Gabriele Rothmund, JS Dullinger, Magdalena Pernauer, Annemarie Schwan, Karl T. Hoffmann, Anne D. Sperfeld
Publikováno v:
Journal of the neurological sciences. 236(1-2)
Thin corpus callosum has been recently observed in two patients with an autosomal dominant trait of hereditary spastic paraplegia (HSP) linked to a novel mutation in the spastin gene (SPG4). In the same two patients cerebellar atrophy has been found.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c13d1f792989e9c34d32523d8566a0b
https://pubmed.ncbi.nlm.nih.gov/16009377
https://pubmed.ncbi.nlm.nih.gov/16009377