Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Klaus Isenhardt"'
Autor:
Katrin Bürk, Katja Lohmann, Valerija Dobricic, Klaus Isenhardt, Christine Zühlke, Paul J. Lockhart, Vera Tadic, Melanie Bahlo, Maria Gisatulin, Alexander Münchau, Christoph Helmchen, Yorck Hellenbroich, Norbert Brüggemann
Publikováno v:
Neurology. 95:e2912-e2923
ObjectiveTo determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) in patients with late-onset cerebellar ataxia, neuropathy, and vestibular areflexia s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65d5e51af2ed44514bfcff46539c9271
https://doi.org/10.1212/wnl.0000000000010744
https://doi.org/10.1212/wnl.0000000000010744
Autor:
Maria, Gisatulin, Valerija, Dobricic, Christine, Zühlke, Yorck, Hellenbroich, Vera, Tadic, Alexander, Münchau, Klaus, Isenhardt, Katrin, Bürk, Melanie, Bahlo, Paul J, Lockhart, Katja, Lohmann, Christoph, Helmchen, Norbert, Brüggemann
Publikováno v:
Neurology. 95(21)
To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (In this case-control study, we included 457 individuals comprising 26 patients with complete or inco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::58eaece17d5bd9ce3ab39e983e06db90
https://pubmed.ncbi.nlm.nih.gov/32873692
https://pubmed.ncbi.nlm.nih.gov/32873692
Autor:
Mehar C. Sharma, Teodor Podskarbi, Arpad von Moers, C. Schultze, Gisela Stoltenburg-Didinger, Yoon S. Shin, Klaus Isenhardt, Dominique S. Tews, Hans H. Goebel
Publikováno v:
Acta neuropathologica. 110(2)
Three unrelated patients, one girl, one boy, and an adult female, aged 14, 11 and 41 years, respectively, at the time of biopsy, revealed lysosomal glycogen storage, autophagic vacuoles and peculiar globular inclusions of distinct ultrastructure, whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfcdead52746c69a6e4c4905557bb6b
https://pubmed.ncbi.nlm.nih.gov/15986226
https://pubmed.ncbi.nlm.nih.gov/15986226
Publikováno v:
Clinical Neurophysiology. 119:S54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8b0798b65b5ce41210a93d13d9ece45
https://doi.org/10.1016/s1388-2457(08)60202-3
https://doi.org/10.1016/s1388-2457(08)60202-3