Lehrstuhl für Neurogenetik (2015 — 2023)

Publikationen

Publikationen pro Jahr 1997 2011 2013 2021 2022 2023 2024

• 116 Artikel
• 19 Brief
• 10 Kommentar/Debatte
• 5 Übersichtsartikel
• 3 Mehr
  • 2 Kapitel
  • 1 Leitartikel

Publikationen pro Jahr

Publikationen pro Jahr

Suchergebnisse

• 2023

  A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy

  Necpál, J., Winkelmann, J., Zech, M. & Jech, R., Juni 2023, in: Parkinsonism and Related Disorders. 111, 105437.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

• Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia

  Indelicato, E., Boesch, S., Baumgartner, M., Plecko, B., Winkelmann, J. & Zech, M., Feb. 2023, in: Movement Disorders. 38, 2, S. 355-357 3 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

  Open Access
  7 Zitate (Scopus)
• 2022

  A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”

  Harrer, P., Leppmeier, V., Berger, A., Demund, S., Winkelmann, J., Berweck, S. & Zech, M., Nov. 2022, in: European Journal of Medical Genetics. 65, 11, 104635.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  3 Zitate (Scopus)

• Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype

  Svorenova, T., Romito, L. M., Colangelo, I., Han, V., Jech, R., Prokisch, H., Winkelmann, J., Skorvanek, M., Garavaglia, B. & Zech, M., Sept. 2022, in: Parkinsonism and Related Disorders. 102, S. 89-91 3 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  1 Zitat (Scopus)
• 2021

  A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants

  Zech, M., Bardakjian, T. M., Stoklosa, M., Ploski, R., Jech, R., Gonzalez-Alegre, P. & Winkelmann, J., Feb. 2021, in: Movement Disorders. 36, 2, S. 520-521 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  6 Zitate (Scopus)

• A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia

  Musacchio, T., Zech, M., Reich, M. M., Winkelmann, J. & Volkmann, J., Juni 2021, in: Annals of Neurology. 89, 6, S. 1257-1258 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  9 Zitate (Scopus)

• A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia

  Ostrozovicova, M., Jech, R., Steel, D., Pavelekova, P., Han, V., Gdovinova, Z., Lichtner, P., Kurian, M. A., Wiethoff, S., Houlden, H., Havránková, P., Winkelmann, J., Zech, M. & Skorvanek, M., Aug. 2021, in: Movement Disorders. 36, 8, S. 1984-1985 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  7 Zitate (Scopus)

• Atypical presentations of DYT1 dystonia with acute craniocervical onset

  Pavelekova, P., Jech, R., Zech, M., Krepelova, A., Han, V., Mosejova, A., Liba, Z., Urgosik, D., Gdovinova, Z., Havrankova, P., Fecikova, A., Winkelmann, J. & Skorvanek, M., Feb. 2021, in: Parkinsonism and Related Disorders. 83, S. 54-55 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

  • Early-onset Dystonia 100%
  • Atypical Presentation 100%
  • DYT1 Gene 100%
  • Limb-onset 100%
  • Unusual Presentation 100%
  1 Zitat (Scopus)

• MATR3 haploinsufficiency and early-onset neurodegeneration

  Zech, M., Seibt, A., Zumbaum, B., Klee, D., Meitinger, T., Winkelmann, J., Mayatepek, E., Wagner, M. & Distelmaier, F., 1 Sept. 2021, in: Brain. 144, 9, e72.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

  Open Access
  5 Zitate (Scopus)

• NR4A2 and Dystonia with Dopa Responsiveness

  Winter, B., Krämer, J., Meinhardt, T., Berner, D., Alt, K., Wenzel, M., Winkelmann, J. & Zech, M., Sept. 2021, in: Movement Disorders. 36, 9, S. 2203-2204 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  8 Zitate (Scopus)

• Reply to “Truncating VPS16 Mutations are Rare in Early-Onset Dystonia”

  Zech, M., Steel, D., Kurian, M. A. & Winkelmann, J., März 2021, in: Annals of Neurology. 89, 3, S. 626 1 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  1 Zitat (Scopus)

• Trisomy X syndrome with dystonia and a pathogenic SATB1 variant

  Necpál, J., Zech, M., Winkelmann, J. & Jech, R., Sept. 2021, in: Neurological Sciences. 42, 9, S. 3883-3884 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  2 Zitate (Scopus)
• 2020

  Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier

  Necpál, J., Zech, M., Valachová, A., Sedláček, Z., Bendová, Š., Hančárová, M., Okáľová, K., Winkelmann, J. & Jech, R., Aug. 2020, in: Parkinsonism and Related Disorders. 77, S. 87-88 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  10 Zitate (Scopus)
• 2019

  Biological and clinical insights from genetics of insomnia symptoms

  HUNT All In Sleep, 1 März 2019, in: Nature Genetics. 51, 3, S. 387-393 7 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

  Open Access

  • Clinical Insight 100%
  • Insomnia Symptoms 100%
  • Biological Insight 100%
  • Ubiquitin 100%
  • Proteolysis 100%
  225 Zitate (Scopus)

• Reply to: Safety of dopamine agonists for treating restless legs syndrome

  Salminen, A. V., Allen, R. P., Högl, B., Inoue, Y., Oertel, W., Winkelman, J. W., Trenkwalder, C., Sampaio, C. & Winkelmann, J., Jan. 2019, in: Movement Disorders. 34, 1, S. 150-151 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  1 Zitat (Scopus)

• Reply to: A note on rotigotine for restless legs syndrome after renal transplantation

  Salminen, A. V., Allen, R. P., Högl, B., Inoue, Y., Oertel, W., Winkelman, J. W., Trenkwalder, C., Sampaio, C. & Winkelmann, J., Jan. 2019, in: Movement Disorders. 34, 1, S. 152-153 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
• 2011

  Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

  Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C. C. A., Patsopoulos, N. A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S. E., Edkins, S., Gray, E., Booth, D. R., Potter, S. C., Goris, A., Band, G., Oturai, A. B., Strange, A., Saarela, J. & Bellenguez, C. &222 mehr, Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'Alfonso, S., Blackburn, H., Boneschi, F. M., Liddle, J., Harbo, H. F., Perez, M. L., Spurkland, A., Waller, M. J., Mycko, M. P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O. T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S. J., Barcellos, L. F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S. E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J. P., Brassat, D., Broadley, S. A., Buck, D., Butzkueven, H., Capra, R., Carroll, W. M., Cavalla, P., Celius, E. G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M. B., Cozen, W., Cree, B. A. C., Cross, A. H., Cusi, D., Daly, M. J., Davis, E., De Bakker, P. I. W., Debouverie, M., D'Hooghe, M. B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S. F. A., Guerini, F. R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H. P., Heard, R. N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A. G., Kilpatrick, T. J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J. S., Leone, M. A., Leppä, V., Liljedahl, U., Bomfim, I. L., Lincoln, R. R., Link, J., Liu, J., Lorentzen, A. R., Lupoli, S., MacCiardi, F., MacK, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J. L., Mentch, F., Mero, I. L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K. M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H. L., Ramsay, P. P., Reunanen, M., Reynolds, R., Rioux, J. D., Rodegher, M., Roesner, S., Rubio, J. P., Rückert, I. M., Salvetti, M., Salvi, E., Santaniello, A., Schaefer, C. A., Schreiber, S., Schulze, C., Scott, R. J., Sellebjerg, F., Selmaj, K. W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P. M. A., Smestad, C., Sørensen, P. S., Søndergaard, H. B., Stankovich, J., Strange, R. C., Sulonen, A. M., Sundqvist, E., Syvänen, A. C., Taddeo, F., Taylor, B., Blackwell, J. M., Tienari, P., Bramon, E., Tourbah, A., Brown, M. A., Tronczynska, E., Casas, J. P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H. S., Wang, K., Mathew, C. G., Wason, J., Palmer, C. N. A., Wichmann, E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R. C., Yaouanq, J., Viswanathan, A. C., Zhang, H., Wood, N. W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J. R., Pericak-Vance, M. A., Haines, J. L., Olsson, T., Hillert, J., Ivinson, A. J., De Jager, P. L., Peltonen, L., Stewart, G. J., Hafler, D. A., Hauser, S. L., McVean, G., Donnelly, P. & Compston, A., 11 Aug. 2011, in: Nature. 476, 7359, S. 214-219 6 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

  Open Access

  • Multiple Sclerosis 100%
  • Genetic Risk 100%
  • Cell-mediated 100%
  • Immune Defense 100%
  • Major Histocompatibility Complex 100%
  2211 Zitate (Scopus)

• Myoclonus-dystonia in 18p deletion syndrome

  Kowarik, M. C., Langer, S., Keri, C., Hemmer, B., Oexle, K. & Winkelmann, J., 15 Feb. 2011, in: Movement Disorders. 26, 3, S. 560-561 2 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  17 Zitate (Scopus)
• 1997

  Nonmotor fluctuations in patients with Parkinson's disease

  Friess, E., Winkelmann, J. & Trenkwalder, C., Nov. 1997, in: Neurology. 49, 5, S. 1472 1 S.

  Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung
  2 Zitate (Scopus)