Research output per year
Research output per year
- 15 results
Search results
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2024
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
SMArtCARE Study Group, Apr 2024, In: The Lancet regional health. Europe. 39, p. 100862 12 p., 100862.Research output: Contribution to journal › Original Article › peer-review
Open Access18 Citations (Web of Science) -
2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader, I. (First author), Freilinger, M., Landauer, F. (Co-author), Waldmüller, S., Mueller-Felber, W., Rauscher, C. (Co-author), Sperl, W. (Co-author), Bittner, R. E., Schmidt, W. M. & Mayr, J. A. (Last author), 2022, In: ORPHANET JOURNAL OF RARE DISEASES. 17, 1, p. 279Research output: Contribution to journal › Original Article › peer-review
1 Citation (Web of Science) -
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. & 10 others, , 2022, In: LANCET CHILD & ADOLESCENT HEALTH. 6, 1, p. 17-27Research output: Contribution to journal › Original Article › peer-review
76 Citations (Web of Science) -
Prevalence of comorbidities, and affective disorders in epilepsy: A latent class analysis approach.
Rainer, L. (First author), Granbichler, C. A., Kobulashvili, T. (Co-author), Kuchukhidze, G. (Co-author), Rauscher, C. (Co-author), Renz, N. (Co-author), Langthaler, P. B. (Co-author), Braun, M., Linehan, C., Christensen, J., Siebert, U. & Trinka, E. (Last author), 2022, In: EPILEPSY RESEARCH . 182, p. 106917Research output: Contribution to journal › Original Article › peer-review
5 Citations (Web of Science) -
2021
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Krenn, M., Schloegl, M., Pataraia, E., Gelpi, E., Schröder, S., Rauscher, C. (Co-author), Mayr, J. A. (Co-author), Kotzot, D. (Co-author), Zimprich, F., Meitinger, T. & Wagner, M., 2021, In: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. 87, p. 25-29Research output: Contribution to journal › Original Article › peer-review
5 Citations (Web of Science) -
Multidisciplinary diagnostics of developmental disorders: basis for personalized precision medicine The "groundhog" consultation
Wortmann, S. (First author), Preisel, M., Feichtinger, R. (Co-author), Floride, E. (Co-author), Koch, J. (Co-author), Kleber, N., Kranewitter, K., Rauscher, C. (Co-author), Spenger, J. (Co-author), Steinbrucker, K., Sperl, W. (Co-author), Weghuber, D. (Co-author) & Mayr, J. A. (Last author), 2021, In: Monatsschrift Kinderheilkunde.Research output: Contribution to journal › Original Article › peer-review
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2018
Next-Generation Sequencing: Next-Generation Quality in Pediatrics
Wortmann, S. (First author), Spenger, J., Preisel, M., Koch, J. (Co-author), Rauscher, C. (Co-author), Bader, I. (Co-author), Mayr, J. A. (Co-author) & Sperl, W. (Last author), 2018, In: PÄDIATRIE UND PÄDOLOGIE. 53, 6, p. 278-283Research output: Contribution to journal › Original Article › peer-review
2 Citations (Web of Science) -
2017
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch, J. (First author), Mayr, J. A. (First author), Alhaddad, B., Rauscher, C. (Co-author), Bierau, J., Kovacs-Nagy, R., Coene, K. L. M., Bader, I. (Co-author), Holzhacker, M., Prokisch, H., Venselaar, H., Wevers, R. A., Distelmaier, F., Polster, T., Leiz, S., Betzler, C. (Co-author), Strom, T. M., Sperl, W. (Co-author), Meitinger, T. & Wortmann, S. (Last author) & 1 others, , 2017, In: BRAIN . 140, Pt 2, p. 279-286Research output: Contribution to journal › Original Article › peer-review
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2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch, J. (First author), Freisinger, P., Feichtinger, R. (Co-author), Zimmermann, F. (Co-author), Rauscher, C. (Co-author), Wagentristl, H. P., Konstantopoulou, V., Seidl, R., Haack, T. B., Prokisch, H., Ahting, U., Sperl, W. (Co-author), Mayr, J. A. (Co-author) & Maier, E. (Last author), 2015, In: ORPHANET JOURNAL OF RARE DISEASES. 10, p. 40Research output: Contribution to journal › Original Article › peer-review
22 Citations (Web of Science) -
2012
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
Mayr, J. A. (First author), Koch, J. (First author), Fauth, C., Zimmermann, F., Rauscher, C. (Co-author), Zschocke, J. & Sperl, W. (Last author), 2012, In: NEUROPEDIATRICS . 43, 3, p. 130-134Research output: Contribution to journal › Original Article › peer-review
3 Citations (Web of Science) -
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer, C., Trajanoski, S., Papić, L., Windpassinger, C., Bernert, G., Freilinger, M., Schabhüttl, M., Arslan-Kirchner, M., Javaher-Haghighi, P., Plecko, B., Senderek, J., Rauscher, C. (Co-author), Löscher, W. N., Pieber, T. R., Janecke, A. R. & Auer-Grumbach, M., 2012, In: JOURNAL OF NEUROLOGY . 259, 3, p. 515-523Research output: Contribution to journal › Original Article › peer-review
18 Citations (Web of Science) -
2011
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mayr, J. A. (First author), Bodamer, O. A. (Co-author), Haack, T. B., Zimmermann, F., Madignier, F., Prokisch, H., Rauscher, C. (Co-author), Koch, J. (Co-author) & Sperl, W. (Last author), 2011, In: MOLECULAR GENETICS AND METABOLISM . 103, 4, p. 358-361Research output: Contribution to journal › Original Article › peer-review
18 Citations (Web of Science) -
2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Leen, W., Klepper, J., Verbeek, M., Leferink, M., Hofste, T., van Engelen, B., Wevers, R., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., van Bogaert, P., Carrilho, I., Chabrol, B., Champion, M., Coldwell, J., Clayton, P., Donner, E., Evangeliou, A. & Ebinger, F. & 33 others, , 2010, In: BRAIN . 133, p. 655-670Research output: Contribution to journal › Original Article › peer-review
281 Citations (Web of Science) -
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
Herzer, M., Koch, J. (First author), Prokisch, H., Rodenburg, R., Rauscher, C. (Co-author), Radauer, W., Forstner, R. (Co-author), Pilz, P., Rolinski, B., Freisinger, P., Mayr, J. A. (Co-author) & Sperl, W. (Last author), 2010, In: NEUROPEDIATRICS . 41, 1, p. 30-34Research output: Contribution to journal › Original Article › peer-review
30 Citations (Web of Science) -
Outcome of severe unilateral cerebellar hypoplasia
Poretti, A., Limperopoulos, C., Roulet-Perez, E., Wolf, N., Rauscher, C. (Co-author), Prayer, D., Muller, A., Weissert, M., Kotzaeridou, U., Du Plessis, A., Huisman, T. & Boltshauser, E., 2010, In: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 52, 8, p. 718-724Research output: Contribution to journal › Original Article › peer-review
50 Citations (Web of Science)