Publikationen pro Jahr
Publikationen pro Jahr
- 14 Ergebnisse
Suchergebnisse
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2023
Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification
Härtl, J., Haack, T. B., Cordts, I. & Deschauer, M., Sept. 2023, in: Annals of Neurology. 94, 3, S. 608 1 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
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2022
A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient
Deppe, J., Deininger, N., Lingor, P., Haack, T. B., Haslinger, B. & Deschauer, M., Juni 2022, in: Movement Disorders. 37, 6, S. 1319-1321 3 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
Open Access4 Zitate (Scopus) -
Reply to: “Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected”
Cordts, I., Haack, T. B. & Deschauer, M., Nov. 2022, in: Movement Disorders. 37, 11, S. 2324-2325 2 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
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Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis
Cordts, I., Hecker, J. S., Gauck, D., Park, J., Hartl, J., Gunthner, R., Hammitzsch, A., Schoser, B., Abeck, D., Gotze, K. S., Haack, T. B., Deschauer, M., Moog, P. & Hemmer, B., 1 Mai 2022, in: Rheumatology. 61, 5, S. E117-E119Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
Open Access21 Zitate (Scopus) -
2021
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum
Kaiyrzhanov, R., Wortmann, S., Reid, T., Dehghani, M., Vahidi Mehrjardi, M. Y., Alhaddad, B., Wagner, M., Deschauer, M., Cordts, I., Fernandez-Murray, J. P., Treffer, V., Metanat, Z., Pittman, A., Houlden, H., Meitinger, T., Carroll, C., McMaster, C. R. & Maroofian, R., 1 März 2021, in: Brain. 144, 3, A774.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
Open Access14 Zitate (Scopus) -
2017
Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration
Bublitz, S. K., Alhaddad, B., Synofzik, M., Kuhl, V., Lindner, A., Freiberg, C., Schmidt, H., Strom, T. M., Haack, T. B. & Deschauer, M., Nov. 2017, in: Clinical Genetics. 92, 5, S. 561-562 2 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
12 Zitate (Scopus) -
2014
Enzyme replacement therapy and antibodies in late-onset Pompe disease
Schneider, I., Deschauer, M. & Hanisch, F., 2014, in: Molecular Genetics and Metabolism Reports. 1, 1, S. 232-234 3 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
Open Access1 Zitat (Scopus) -
2013
Expanding mutation spectrum in CPT II gene: Identification of four novel mutations
Joshi, P. R., Young, P., Deschauer, M. & Zierz, S., Mai 2013, in: Journal of Neurology. 260, 5, S. 1412-1414 3 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
7 Zitate (Scopus) -
2012
MELAS/SANDO overlap syndrome associated with POLG1 mutations
Hansen, N., Zwarg, T., Wanke, I., Zierz, S., Kastrup, O. & Deschauer, M., Feb. 2012, in: Neurological Sciences. 33, 1, S. 209-212 4 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
4 Zitate (Scopus) -
2010
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients
Hanisch, F., Grimm, D., Zierz, S. & Deschauer, M., Feb. 2010, in: Journal of Neurology. 257, 2, S. 300-301 2 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
7 Zitate (Scopus) -
The p.P56S mutation in the VAPB gene is not due to a single founder: The first European case
Funke, A. D., Esser, M., Krüttgen, A., Weis, J., Mitne-Neto, M., Lazar, M., Nishimura, A. L., Sperfeld, A. D., Trillenberg, P., Senderek, J., Krasnianski, M., Zatz, M., Zierz, S. & Deschauer, M., März 2010, in: Clinical Genetics. 77, 3, S. 302-303 2 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
Open Access50 Zitate (Scopus) -
2008
Reply from the authors
Deschauer, M., Turnbull, D. M. & Taylor, R. W., März 2008, in: Neurology. 70, 13 PART 1, S. 1054-1055 2 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
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Unique PABPN1 gene mutation in a large Bulgarian family with OPMD
Mihaylova, V., Müller, T., Petrova, I., Tournev, I., Cherninkova, S., Walter, M. C. & Deschauer, M., Apr. 2008, in: Journal of Neurology. 255, 4, S. 609-611 3 S.Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
4 Zitate (Scopus) -
2006
Reply to 'Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies - A comment' [2]
Krasnianski, A., Deschauer, M., Krasnianski, M. & Zierz, S., März 2006, in: Brain. 129, 3, S. e41.1-e41.2Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung