Research ExplorerScientific StaffDeike Weiss Publications

Deike Weiss

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  1. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

    Harms, F. L., Weiss, D., Lisfeld, J., Alawi, M. & Kutsche, K., 07.2023, In: NEUROGENETICS. 24, 3, p. 171-180 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  2. Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis

    Grinstein, L., Hecher, L., Weiss, D., Johannsen, J. & Denecke, J., 04.2024, In: NEUROPEDIATRICS. 55, 2, p. 117-123 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

    Weiss, D., Kortüm, F., Driemeyer, J. & Kloth, K., 2020, In: MONATSSCHR KINDERH.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing

    Zang, J., Witt, S., Johannsen, J., Weiss, D., Denecke, J., Dumitrascu, C., Nießen, A., Quitmann, J. H., Pflug, C. & Flügel, T., 2024, In: J NEUROMUSCULAR DIS. 11, 2, p. 473-483 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Schwersenz, I., Walter, M. C., Baumann, M., Baumgartner, M., Deschauer, M., Eisenkölbl, A., Flotats-Bastardas, M., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Stögmann, E., Trollmann, R., Vill, K., Weiß, C., Wiegand, G., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 13.02.2023, In: BRAIN. 146, 2, p. 668-677 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

    Johannsen, J., Weiss, D., Daubmann, A., Schmitz, L. & Denecke, J., 09.2021, In: J CELL MOL MED. 25, 17, p. 8419-8431 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

    Zang, J., Johannsen, J., Denecke, J., Weiss, D., Koseki, J-C., Nießen, A., Müller, F., Nienstedt, J. C., Flügel, T. & Pflug, C., 03.2023, In: EUR ARCH OTO-RHINO-L. 280, 3, p. 1329-1338 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

    Johannsen, J., Weiss, D., Driemeyer, J., Olfe, J., Stute, F., Müller, F., Schütt, M., Trollmann, R., Kölbel, H., Schara-Schmidt, U., Kirschner, J., Pechmann, A., Blaschek, A., Horber, V. & Denecke, J., 2023, In: FRONT PEDIATR. 11, p. 1259293

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Wenzel, F., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Walter, M. C., Bertsche, A., Vill, K., Baumann, M., Baumgartner, M., Cordts, I., Eisenkölbl, A., Flotats-Bastardas, M., Friese, J., Günther, R., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Jahnel, J., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schwerin-Nagel, A., Reihle, C., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Trollmann, R., Weiler, M., Weiß, C., Wiegand, G., Wilichowski, E., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 23.10.2022, In: ORPHANET J RARE DIS. 17, 1, 384.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Wenzel, F., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Walter, M. C., Steinbach, M., Blaschek, A., Baumann, M., Baumgartner, M., Becker, B., Flotats-Bastardas, M., Friese, J., Günther, R., Hahn, A., Küpper, H., Johannsen, J., Kamm, C., Koch, J. C., Köhler, C., Kölbel, H., Kolzter, K., von Moers, A., Naegel, S., Neuwirth, C., Petri, S., Rödiger, A., Schimmel, M., Schrank, B., Schreiber, G., Smitka, M., Stadler, C., Steiner, E., Stögmann, E., Trollmann, R., Türk, M., Weiler, M., Stoltenburg, C., Willichowsky, E., Zeller, D., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 2023, In: J NEUROMUSCULAR DIS. 10, 1, p. 29-40 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Interventionelle Behandlung eines Riesenaneurysma der extrakraniellen Arteria carotis interna bei einem 4-jährigen Kind: ein Fallbericht

    Weiss, D., Strohm, T., Johannsen, J., Buhk, J-H. & Denecke, J., 01.04.2023, In: Neuropäd Klin Prax. 22, 2, p. 68-71

    Research output: SCORING: Contribution to journal › Case report › Transfer › peer-review

  13. Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

    Johannsen, J., Weiss, D., Schlenker, F., Groth, M. & Denecke, J., 06.2021, In: NEUROPEDIATRICS. 52, 3, p. 179-185 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Cousin, M. A., Creighton, B. A., Breau, K. A., Spillmann, R. C., Torti, E., Dontu, S., Tripathi, S., Ajit, D., Edwards, R. J., Afriyie, S., Bay, J. C., Harper, K. M., Beltran, A. A., Munoz, L. J., Falcon Rodriguez, L., Stankewich, M. C., Person, R. E., Si, Y., Normand, E. A., Blevins, A., May, A. S., Bier, L., Aggarwal, V., Mancini, G. M. S., van Slegtenhorst, M. A., Cremer, K., Becker, J., Engels, H., Aretz, S., MacKenzie, J. J., Brilstra, E., van Gassen, K. L. I., van Jaarsveld, R. H., Oegema, R., Parsons, G. M., Mark, P., Helbig, I., McKeown, S. E., Stratton, R., Cogne, B., Isidor, B., Cacheiro, P., Smedley, D., Firth, H. V., Bierhals, T., Kloth, K., Weiss, D., Fairley, C., Shieh, J. T., Kritzer, A., Jayakar, P., Kurtz-Nelson, E., Bernier, R. A., Wang, T., Eichler, E. E., van de Laar, I. M. B. H., McConkie-Rosell, A., McDonald, M. T., Kemppainen, J., Lanpher, B. C., Schultz-Rogers, L. E., Gunderson, L. B., Pichurin, P. N., Yoon, G., Zech, M., Jech, R., Winkelmann, J., Beltran, A. S., Zimmermann, M. T., Temple, B., Moy, S. S., Klee, E. W., Tan, Q. K-G., Lorenzo, D. N. & Undiagnosed Diseases Network, 07.2021, In: NAT GENET. 53, 7, p. 1006-1021 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Sehstörung und Parästhesien mit seltener Ursache

    Guder, P., Johannsen, J., Weiss, D., Lischka, T. & Denecke, J., 2018, In: MONATSSCHR KINDERH.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review