Research ExplorerScientific StaffJonas Denecke Publications

PD Dr. med. ID: 44725

Jonas Denecke

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Publications

  1. 2024

  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. 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

  4. 2023

  5. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

    Mah-Som, A. Y., Daw, J., Huynh, D., Wu, M., Creekmore, B. C., Burns, W., Skinner, S. A., Holla, Ø. L., Smeland, M. F., Planes, M., Uguen, K., Redon, S., Bierhals, T., Scholz, T., Denecke, J., Mensah, M. A., Sczakiel, H. L., Tichy, H., Verheyen, S., Blatterer, J., Schreiner, E., Thies, J., Lam, C., Spaeth, C. G., Pena, L., Ramsey, K., Narayanan, V., Seaver, L. H., Rodriguez, D., Afenjar, A., Burglen, L., Lee, E. B., Chou, T-F., Weihl, C. C. & Shinawi, M. S., 02.11.2023, In: AM J HUM GENET. 110, 11, p. 1959-1975 17 p.

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

  6. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

    Thalwitzer, K. M., Driedger, J. H., Xian, J., Saffari, A., Zacher, P., Bölsterli, B. K., McKeown Ruggiero, S., Sullivan, K. R., Datta, A. N., Kellinghaus, C., Althaus, J., Wiemer-Kruel, A., van Baalen, A., Pampel, A., Alber, M., Braakman, H. M. H., Debus, O. M., Denecke, J., Hobbiebrunken, E., Breitweg, I., Diehl, D., Eitel, H., Gburek-Augustat, J., Preisel, M., Schlump, J-U., Laufs, M., Mammadova, D., Wurst, C., Prager, C., Löhr-Nilles, C., Martin, P., Garbade, S. F., Platzer, K., Benkel-Herrenbrueck, I., Egler, K., Fazeli, W., Lemke, J. R., Runkel, E., Klein, B., Linden, T., Schröter, J., Steffeck, H., Thies, B., von Deimling, F., Illsinger, S., Borggraefe, I., Classen, G., Wieczorek, D., Ramantani, G., Koelker, S., Hoffmann, G. F., Ries, M., Helbig, I. & Syrbe, S., 29.08.2023, In: NEUROLOGY. 101, 9, p. e879-e891

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

  7. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

    Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.

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

  8. Akute MOG-Antikörper positive Encephalomyelitis bei einer 17 Jahre alten Patientin

    Gärtner, J. M., Johannsen, J. & Denecke, J., 01.06.2023, In: Neuropäd Klin Prax. 22, 3, p. 112-115

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

  9. Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

    Nikolaus, M., Rausch, P., Rostásy, K., Bertolini, A., Wickström, R., Johannsen, J., Denecke, J., Breu, M., Schimmel, M., Diepold, K., Haeusler, M., Quade, A., Berger, A., Rosewich, H., Steen, C., von Au, K., Dreesmann, M., Finke, C., Bartels, F., Kaindl, A. M., Schuelke, M. & Knierim, E., 05.2023, In: NEUROL-NEUROIMMUNOL. 10, 3, e200102.

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

  10. 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

  11. INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

    Hecher, L., Harms, F. L., Lisfeld, J., Alawi, M., Denecke, J. & Kutsche, K., 04.2023, In: NEUROGENETICS. 24, 2, p. 79-93 15 p.

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

  12. Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

    Inhestern, L., Brandt, M., Driemeyer, J., Denecke, J., Johannsen, J. & Bergelt, C., 31.03.2023, In: INT J ENV RES PUB HE. 20, 7, p. 5360

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

  13. Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

    Khazaei, S., Chen, C. C. L., Andrade, A. F., Kabir, N., Azarafshar, P., Morcos, S. M., França, J. A., Lopes, M., Lund, P. J., Danieau, G., Worme, S., Adnani, L., Nzirorera, N., Chen, X., Yogarajah, G., Russo, C., Zeinieh, M., Wong, C. J., Bryant, L., Hébert, S., Tong, B., Sihota, T. S., Faury, D., Puligandla, E., Jawhar, W., Sandy, V., Cowan, M., Nakada, E. M., Jerome-Majewska, L. A., Ellezam, B., Gomes, C. C., Denecke, J., Lessel, D., McDonald, M. T., Pizoli, C. E., Taylor, K., Cocanougher, B. T., Bhoj, E. J., Gingras, A-C., Garcia, B. A., Lu, C., Campos, E. I., Kleinman, C. L., Garzia, L. & Jabado, N., 16.03.2023, In: CELL. 186, 6, p. 1162-1178.e20

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

  14. 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

  15. 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

  16. 2022

  17. Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings

    Wiegand-Grefe, S., Liedtke, A., Morgenstern, L., Hoff, A., Csengoe-Norris, A., Johannsen, J., Denecke, J., Barkmann, C., Grolle, B., Daubmann, A., Wegscheider, K. & Boettcher, J., 14.10.2022, In: BMC PEDIATR. 22, 1, p. 596 596.

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

  18. Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

    Alves, C. A. P. F., Sherbini, O., D'Arco, F., Steel, D., Kurian, M. A., Radio, F. C., Ferrero, G. B., Carli, D., Tartaglia, M., Balci, T. B., Powell-Hamilton, N. N., Schrier Vergano, S. A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E. R., Littlejohn, R. O., Lessel, D., Lüttgen, S., Kentros, C., Anyane-Yeboa, K., Catarino, C. B., Mercimek-Andrews, S., Denecke, J., Lyons, M. J., Klopstock, T., Bhoj, E. J., Bryant, L. & Vanderver, A., 07.2022, In: AM J NEURORADIOL. 43, 7, p. 1048-1053 6 p.

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

  19. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

    Schorling, D. C., Kölbel, H., Hentschel, A., Pechmann, A., Meyer, N., Wirth, B., Rombo, R., Sickmann, A., Kirschner, J., Schara-Schmidt, U., Lochmüller, H., Roos, A. & SMArtCARE consortium, 07.2022, In: EUR J NEUROL. 29, 7, p. 2084-2096 13 p.

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

  20. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

    Kreienkamp, H-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M. & Lessel, D., 02.2022, In: HUM GENET. 141, 2, p. 257-272 16 p.

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

  21. Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET

    Wiegand-Grefe, S., Denecke, J. & CARE-FAM-NET Studiengruppe, 04.01.2022, In: MONATSSCHR KINDERH. 170, p. 44 - 51 8 p.

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

  22. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

    Weiß, C., Ziegler, A., Becker, L-L., Johannsen, J., Brennenstuhl, H., Schreiber, G., Flotats-Bastardas, M., Stoltenburg, C., Hartmann, H., Illsinger, S., Denecke, J., Pechmann, A., Müller-Felber, W., Vill, K., Blaschek, A., Smitka, M., van der Stam, L., Weiss, K., Winter, B., Goldhahn, K., Plecko, B., Horber, V., Bernert, G., Husain, R. A., Rauscher, C., Trollmann, R., Garbade, S. F., Hahn, A., von der Hagen, M. & Kaindl, A. M., 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 17-27 11 p.

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

  23. 2021

  24. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

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

  25. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

    Schob, C., Hempel, M., Brozkova, D. S., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Meszarosova, A. U., Chae, J-H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S. & Denecke, J., 11.2021, In: ANN NEUROL. 90, 5, p. 738-750 13 p.

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

  26. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

    Kloth, K., Lozic, B., Tagoe, J., Hoffer, M. J. V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P. Y. B., Denecke, J., Bijlsma, E. K. & Lessel, D., 10.2021, In: NEUROGENETICS. 22, 4, p. 263-269 7 p.

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

  27. Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!

    Fröschle, G. M. C., Ebenebe, C. U., Herrmann, J., Denecke, J., Singer, D. & Dabek, M., 10.2021, In: Z GEBURTSH NEONATOL. 225, 5, p. 445-446 2 p.

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

  28. 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

  29. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    El Ghaleb, Y., Schneeberger, P. E., Fernández-Quintero, M. L., Geisler, S. M., Pelizzari, S., Polstra, A. M., van Hagen, J. M., Denecke, J., Campiglio, M., Liedl, K. R., Stevens, C. A., Person, R. E., Rentas, S., Marsh, E. D., Conlin, L. K., Tuluc, P., Kutsche, K. & Flucher, B. E., 17.08.2021, In: BRAIN. 144, 7, p. 2092-2106 15 p.

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

  30. Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients

    Schwering, C., Kammler, G., Wibbeler, E., Christner, M., Knobloch, J. K-M., Nickel, M., Denecke, J., Baehr, M. & Schulz, A., 07.2021, In: J CHILD NEUROL. 36, 8, p. 635-641 7 p.

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

  31. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

    Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., de Munnik, S., Bongers, E. M. H. F., Murray, J., Pachter, N., Denecke, J., Kutsche, K. & Bicknell, L. S., 07.2021, In: EUR J HUM GENET. 29, 7, p. 1110-1120 11 p.

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

  32. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Cappuccio, G., Brunetti-Pierri, N., Kortüm, F., Hempel, M., Denecke, J., Lehman, A., CAUSES Study, Kleefstra, T., Stuurman, K. E., Wilke, M., Thompson, M. L., Bebin, E. M., Bijlsma, E. K., Hoffer, M. J. V., Peeters-Scholte, C., Slavotinek, A., Weiss, W. A., Yip, T., Hodoglugil, U., Whittle, A., diMonda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernández-Jaen, A., Pelayo, J. P., Klöckner, C., Kamphausen, S. B., Abou Jamra, R., Arelin, M., Innes, A. M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., de Burca, A., Kini, U., Delatycki, M. B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B. J., Robertson, S. P., Lyonnet, S., Amiel, J. & Gordon, C. T., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1138-1150 13 p.

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

  33. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Goodman, S. J., Siu, M. T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., de Vries, B. B. A., Deden, A. C., Leenders, E., Kwint, M., Stumpel, C. T. R. M., Stevens, S. J. C., Vermeulen, J. R., van Harssel, J. V. T., Bosch, D. G. M., van Gassen, K. L. I., van Binsbergen, E., de Geus, C. M., Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I. M., Yang, H., Zou, F., Millan, F., Person, R., Xie, Y., Liu, S., Ousager, L. B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Schmidt, B., Wilson, W. G., Õunap, K., Reinson, K., Pajusalu, S., van Haeringen, A., Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Míguez, M., Ritter, A., Bhoj, E., Tønne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M. J. M., Cohn, R. D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S. W., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Koolen, D. A. & Weksberg, R., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1053-1068 16 p.

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

  34. 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

  35. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J., Escobar, L. F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H-J. & Lessel, D., 21.05.2021, In: GENOME MED. 13, 1, p. 90

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

  36. The natural history of Canavan disease: 23 new cases and comparison with patients from literature

    Bley, A., Denecke, J., Kohlschütter, A., Schön, G., Hischke, S., Guder, P., Bierhals, T., Lau, H., Hempel, M. & Eichler, F. S., 19.05.2021, In: ORPHANET J RARE DIS. 16, 1, p. 227

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

  37. Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

    Ammer, L. S., Pohl, S., Breyer, S. R., Aries, C., Denecke, J., Perez, A., Petzoldt, M., Schrum, J., Müller, I. & Muschol, N. M., 03.2021, In: MOL GENET METAB REP. 26, 100704.

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

  38. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

    Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.

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

  39. 2020

  40. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration

    Polovitskaya, M. M., Barbini, C., Martinelli, D., Harms, F. L., Cole, F. S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D. J., Kutsche, K., Tartaglia, M. & Jentsch, T. J., 03.12.2020, In: AM J HUM GENET. 107, 6, p. 1062-1077 16 p.

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

  41. Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation

    Boettcher, J., Denecke, J., Barkmann, C. & Wiegand-Grefe, S., 02.12.2020, In: INT J ENV RES PUB HE. 17, 23, 8975.

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

  42. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

    Bryant, L., Cox, S. G., Marchione, D., Joiner, E. F., Wilson, K., Janssen, K., Lee, P., March, M. E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K. J., Wadley, A., Mancini, G. M. S., Powell-Hamilton, N., van de Kamp, J., Grebe, T., Dean, J., Ross, A., Crawford, H. P., Powis, Z., Cho, M. T., Willing, M. C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C. B., Retterer, K., Schuette, J. L., Innis, J. W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T. M., Monaghan, K. G., Yuan, Z-F., Dubbs, H., Bend, R., Lee, J. A., Lyons, M. J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K. L., Odent, S., Cogne, B., Mercier, S., Bezieau, S., Besnard, T., Kury, S., Redon, R., Reinson, K., Wojcik, M. H., Õunap, K., Ilves, P., Innes, A. M., Kernohan, K. D., Costain, G., Meyn, M. S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., Martin, M. G., Martinez-Agosto, J. A., Nelson, S. F., Palmer, C. G. S., Papp, J. C., Parker, N. H., Sinsheimer, J. S., Vilain, E., Wan, J., Yoon, A. J., Zheng, A., Brimble, E., Ferrero, G. B., Radio, F. C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J. M., Umana, L., Weiss, M. M., Gotway, G., Stuurman, K. E., Thompson, M. L., McWalter, K., Stumpel, C. T. R. M., Stevens, S. J. C., Stegmann, A. P. A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L. W., Larsen, M. J., Byler, M., Lebel, R. R., Hurst, A. C., Dean, J., Schrier Vergano, S. A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M. I., Longo, N., Sellars, E., Louie, R. J., Cathey, S. S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J. G., Chung, W., Garcia, B., Hakonarson, H. H., Bhoj, E. J. & DDD Study, 12.2020, In: SCI ADV. 6, 49

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

  43. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

    Hecher, L., Johannsen, J., Bierhals, T., Buhk, J-H., Hempel, M. & Denecke, J., 12.2020, In: NEUROPEDIATRICS. 51, 6, p. 435-439 5 p.

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

  44. Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

    Boettcher, J., Filter, B., Denecke, J., Hot, A., Daubmann, A., Zapf, A., Wegscheider, K., Zeidler, J., von der Schulenburg, J-M. G., Bullinger, M., Rassenhofer, M., Schulte-Markwort, M. & Wiegand-Grefe, S., 20.11.2020, In: BMC FAM PRACT. 21, 1, 239.

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

  45. Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16.11.2020, In: NAT COMMUN. 11, 1, p. 5797

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

  46. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 10.2020, In: EUR J HUM GENET. 28, 10, p. 1422-1431 10 p.

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

  47. The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

    Johannsen, J., Fuhrmann, L., Grolle, B., Morgenstern, L., Wiegand-Grefe, S. & Denecke, J., 09.07.2020, In: HEALTH QUAL LIFE OUT. 18, 1, p. 219

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

  48. Nine newly identified individuals refine the phenotype associated with MYT1L mutations

    Windheuser, I. C., Becker, J., Cremer, K., Hundertmark, H., Yates, L. M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K. U., Zink, A. M., Lessel, D., Bierhals, T., Herget, T., Johannsen, J., Denecke, J., Wohlleber, E., Strom, T. M., Wieczorek, D., Bertoli, M., Colombo, R., Hempel, M. & Engels, H., 05.2020, In: AM J MED GENET A. 182, 5, p. 1021-1031 11 p.

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

  49. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F-G., De Giorgis, V., Denecke, J., Doummar, D., Drake Af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M-C., Oppermann, I., Pérez-Dueñas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S. & Crow, Y. J., 04.2020, In: HUM MUTAT. 41, 4, p. 837-849 13 p.

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

  50. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    Mak, C. C. Y., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., Dimartino, C., Weisfeld-Adams, J. D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y. A., Ehmke, N., Horn, D., Troyer, C., Kant, S. G., Lee, Y., Ishak, G. E., Leung, G., Barone Pritchard, A., Yang, S., Bend, E. G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M. G., Martin, P-M., Apple, B., Millan, F., Puk, O., Hoffer, M. J. V., Henderson, L. B., McGowan, R., Wentzensen, I. M., Pei, S., Zahir, F. R., Yu, M., Gibson, W. T., Seman, A., Steeves, M., Murrell, J. R., Luettgen, S., Francisco, E., Strom, T. M., Amlie-Wolf, L., Kaindl, A. M., Wilson, W. G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L. E. L. M., Radtke, K., Chelly, J., Zackai, E., Friedman, J. M., Bamshad, M. J., Nickerson, D. A., University of Washington Center for Mendelian Genomics, Reid, R. R., Devriendt, K., Chae, J-H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T. Y., Orenstein, N., Dobyns, W. B., Shieh, J. T., Choi, M., Waggoner, D., Gripp, K. W., Parker, M. J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T. L., Amiel, J., Chung, B. H. Y. & Gordon, C. T., 01.01.2020, In: BRAIN. 143, 1, p. 55-68 14 p.

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

  51. 2019

  52. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

    Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., Merkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., 12.2019, In: NEUROL-GENET. 5, 6, p. e373

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

  53. Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

    Johannsen, J., Bierhals, T., Deindl, P., Hecher, L., Hermann, K., Hempel, M., Kloth, K. & Denecke, J., 12.2019, In: J PEDIATR GENET. 8, 4, p. 222-225 4 p.

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

  54. Correction to Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease

    Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 10.2019, In: ACTA NEUROPATHOL. 138, 4, p. 673-674 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research

  55. Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease

    Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 07.2019, In: ACTA NEUROPATHOL. 138, 1, p. 147-161 15 p.

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

  56. Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus

    Himmelreich, N., Dimitrov, B., Geiger, V., Zielonka, M., Hutter, A-M., Beedgen, L., Hüllen, A., Breuer, M., Peters, V., Thiemann, K-C., Hoffmann, G. F., Sinning, I., Dupré, T., Vuillaumier-Barrot, S., Barrey, C., Denecke, J., Kölfen, W., Düker, G., Ganschow, R., Lentze, M. J., Moore, S., Seta, N., Ziegler, A. & Thiel, C., 07.2019, In: HUM MUTAT. 40, 7, p. 938-951 14 p.

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

  57. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

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

  58. A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

    Tunc, S., Denecke, J., Olschewski, L., Bäumer, T., Münchau, A., Lessel, D. & Lohmann, K., 15.01.2019, In: J NEUROL SCI. 396, p. 199-201 3 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  59. 2018

  60. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Harms, F. L., Kloth, K., Bley, A., Denecke, J., Santer, R., Lessel, D., Hempel, M. & Kutsche, K., 04.10.2018, In: AM J HUM GENET. 103, 4, p. 579-591 13 p.

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

  61. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    Lessel, D., Gehbauer, C., Bramswig, N. C., Schluth-Bolard, C., Venkataramanappa, S., van Gassen, K. L. I., Hempel, M., Haack, T. B., Baresic, A., Genetti, C. A., Funari, M. F. A., Lessel, I., Kuhlmann, L., Simon, R., Liu, P., Denecke, J., Kuechler, A., de Kruijff, I., Shoukier, M., Lek, M., Mullen, T., Lüdecke, H-J., Lerario, A. M., Kobbe, R., Krieger, T., Demeer, B., Lebrun, M., Keren, B., Nava, C., Buratti, J., Afenjar, A., Shinawi, M., Guillen Sacoto, M. J., Gauthier, J., Hamdan, F. F., Laberge, A-M., Campeau, P. M., Louie, R. J., Cathey, S. S., Prinz, I., Jorge, A. A. L., Terhal, P. A., Lenhard, B., Wieczorek, D., Strom, T. M., Agrawal, P. B., Britsch, S., Tolosa, E. & Kubisch, C., 01.08.2018, In: BRAIN. 141, 8, p. 2299-2311 13 p.

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

  62. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

    Johannsen, J., Kortüm, F., Rosenberger, G., Bokelmann, K., Schirmer, M. A., Denecke, J. & Santer, R., 08.2018, In: NEUROGENETICS. 19, 3, p. 151-156 6 p.

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

  63. Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

    Pechmann, A., Langer, T., Schorling, D., Stein, S., Vogt, S., Schara, U., Kölbel, H., Schwartz, O., Hahn, A., Giese, K., Johannsen, J., Denecke, J., Weiß, C., Theophil, M. & Kirschner, J., 2018, In: J NEUROMUSCULAR DIS. 5, 2, p. 135-143 9 p.

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

  64. 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

  65. 2017

  66. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    Lessel, D., Schob, C., Küry, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., DDD Study, Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R. & Kreienkamp, H-J., 02.11.2017, In: AM J HUM GENET. 101, 5, p. 716-724 9 p.

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

  67. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

    Said, E., Chong, J. X., Hempel, M., Denecke, J., Soler, P., Strom, T., Nickerson, D. A., Kubisch, C., Bamshad, M. J., Lessel, D. & University of Washington Center for Mendelian Genomics, 11.2017, In: AM J MED GENET A. 173, 11, p. 3098-3103

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

  68. Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

    Johannsen, J., Hempel, M., Diehl, T., Haack, T. B. & Denecke, J., 10.2017, In: PEDIATR NEONATOL. 58, 5, p. 458-459

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

  69. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

    Rolvien, T., Butscheidt, S., Jeschke, A., Neu, A., Denecke, J., Kubisch, C., Meisler, M. H., Püschel, K., Barvencik, F., Yorgan, T., Oheim, R., Schinke, T. & Amling, M., 10.2017, In: BONE. 103, p. 136-143

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

  70. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 01.09.2017, In: BRAIN. 140, 9, p. 2322-2336 15 p.

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

  71. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

    Kloth, K., Denecke, J., Hempel, M., Johannsen, J., Strom, T. M., Kubisch, C. & Lessel, D., 09.2017, In: EUR J MED GENET. 60, 9, p. 494-498

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

  72. Management Strategies for CLN2 Disease

    Williams, R. E., Adams, H. R., Blohm, M., Cohen-Pfeffer, J. L., de Los Reyes, E., Denecke, J., Drago, K., Fairhurst, C., Frazier, M., Guelbert, N., Kiss, S., Kofler, A., Lawson, J. A., Lehwald, L., Leung, M-A., Mikhaylova, S., Mink, J. W., Nickel, M., Shediac, R., Sims, K., Specchio, N., Topcu, M., von Löbbecke, I., West, A., Zernikow, B. & Schulz, A., 04.2017, In: PEDIATR NEUROL. 69, p. 102-112 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  73. Lessons learned from additional research analyses of unsolved clinical exome cases

    Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., Wiszniewski, W., Penney, S., Liu, P., Bi, W., Lalani, S. R., Schaaf, C. P., Wangler, M. F., Bacino, C. A., Lewis, R. A., Potocki, L., Graham, B. H., Belmont, J. W., Scaglia, F., Orange, J. S., Jhangiani, S. N., Chiang, T., Doddapaneni, H., Hu, J., Muzny, D. M., Xia, F., Beaudet, A. L., Boerwinkle, E., Eng, C. M., Plon, S. E., Sutton, V. R., Gibbs, R. A., Posey, J. E., Yang, Y. & Lupski, J. R., 21.03.2017, In: GENOME MED. 9, 1, p. 26

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

  74. Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern

    Morgenstern, L., Wagner, M., Denecke, J., Grolle, B., Johannsen, J., Wegscheider, K. & Wiegand-Grefe, S., 2017, In: PRAX KINDERPSYCHOL K. 66, 9, p. 687 -701

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

  75. The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature

    Bohnenpoll, J., Eichler, F. S., Schoen, G., Hischke, S., Denecke, J., Hempel, M., Kohlschütter, A. & Bley, A., 2017, In: NEUROPEDIATRICS. 48, S 01, p. 26 26 p.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  76. 2016

  77. Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

    Johannsen, J., Nickel, M., Schulz, A. & Denecke, J., 06.2016, In: NEUROPEDIATRICS. 47, 3, p. 194-6 3 p.

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

  78. 2015

  79. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    Hempel, M., Cremer, K., Ockeloen, C. W., Lichtenbelt, K. D., Herkert, J. C., Denecke, J., Haack, T. B., Zink, A. M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T. M., van Gassen, K. L. I., Kleefstra, T., Kubisch, C., Engels, H. & Lessel, D., 03.09.2015, In: AM J HUM GENET. 97, 3, p. 493-500 8 p.

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

  80. Phenotypic and molecular insights into CASK-related disorders in males

    Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12.04.2015, In: ORPHANET J RARE DIS. 10, 1, p. 44

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

  81. Brainstem disconnection: two additional patients and expansion of the phenotype

    Poretti, A., Denecke, J., Miller, D. C., Schiffmann, H., Buhk, J. H., Grange, D. K., Doherty, D. & Boltshauser, E., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 139-44 6 p.

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

  82. Chronische Krankheit in der Familie

    Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 9. Workshopkongress für Klinische Psychologie und Psychotherapie & 33. Symposium der Fachgruppe Klinische Psychologie und Psychotherapie der DGPs: Wieviel Psychologie steckt in der Psychotherapie? Positionen, Perspektiven, Lösungen .

    Research output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review

  83. Lebensqualität von chronisch erkrankten Kindern und ihren Familien

    Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 22. Kongress des Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke e.V. (DGM).

    Research output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review

  84. Lebensqualität von langzeitbeatmeten Kindern und ihren Familien

    Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 23. Jahreskongress der Deutschen Interdisziplinären Gesellschaft für Außerklinische Beatmung (DIGAB) e.V.. German Medical Science GMS Publishing House

    Research output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review

  85. 2014

  86. Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)

    Kohlschütter, A., Schulz, A. & Denecke, J., 2014, In: J Pediatr Epilepsy. 3, p. 199-206

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

  87. 2013

  88. Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique

    Denecke, J., 01.01.2013, Haemostasis: Methods and Protocols. 1 ed. Springer, Vol. 992. p. 383-386 4 p. (Methods in Molecular Biology ).

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review