Deike Weiss
Publications
- 2024
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
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
- 2023
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. 107675Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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. 68-71Research output: SCORING: Contribution to journal › Case report › Transfer › peer-review
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
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
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. 1259293Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2022
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
- 2021
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
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
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
- 2020
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
- 2018
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