Christian Rauscher

Research output

Research output per year 2001 2010 2022 2024 2024

• 15 Original Article
• 9 Abstract (Journal)
• 3 Case report
• 1 Correction
• 2 More
  • 1 Editorial
  • 1 Review article

Research output per year

Research output per year

Search results

• 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 Access

  • Observational Study 100%
  • Spinal Muscular Atrophy 100%
  • Nusinersen 100%
  • Upper Limb 33%
  • Adverse Event 16%
  22 Citations (Web of Science)

• Neurofibromatose Typ 1: Vorsorgebogen für Kinder und Jugendliche in Österreich: Konsensuspapier des österreichischen NF-Netzwerks

  Translated title of the contribution: Neurofibromatosis type 1: screening form for children and adolescents in Austria: Consensus paper of the Austrian NF networkAzizi, A. A., Baumgartner, A.-C., Seidel, M., Zobel, J., Ebetsberger-Dachs, G., Zellner, H., Rauscher, C. (Co-author), Birnbacher, R., Pichler, U., Haberlandt, E., Hedrich, C., Berghoff, A. S., Gruber, R. W., Welponer, T. (Co-author), Hutterer, M., Krottendorfer, K., Pletschko, T., Röhl, C., AG für Pädiatrische Hämato-Onkologie (AGPHO) & AG für Neuropädiatrie der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde (ÖGKJ), 16 Apr 2024, In: Monatsschrift Kinderheilkunde. 8 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  2 Citations (Web of Science)

• Neurofibromatosis type 1: Precautionary questionnaire for children and adolescents in Austria (Apr, 10.1007/s00112-024-01955-3, 2024)

  Azizi, A. A., Baumgartner, A.-C., Seidel, M., Zobel, J., Ebetsberger-Dachs, G., Zellner, H., Rauscher, C. (Co-author), Birnbacher, R., Pichler, U., Haberlandt, E., Hedrich, C., Berghoff, A. S., Gruber, R. W. (Co-author), Welponer, T. (Co-author), Hutterer, M., Krottendorfer, K., Pletschko, T. & Roehl, C., 7 May 2024, In: Monatsschrift Kinderheilkunde. 2 p.

  Research output: Contribution to journal › Correction › peer-review

• Novel Austrian Care and Prevention Guide for Children and Adolescents with Nf1

  Azizi, A. A., Baumgartner, A.-C., Hedrich, C., Seidl, M., Zobel, J., Ebetsberger-Dachs, G., Zellner, H., Rauscher, C., Birnbacher, R., Pichler, U., Haberlandt, E., Bergmeister-Berghoff, A. S., Gruber, R., Welponer, T., Hutterer, M., Pletschko, T., Krottendorfer, K. & Roehl, C., 18 Jun 2024, In: NEURO-ONCOLOGY. 26, 2 p., NOAE064574.

  Research output: Contribution to journal › Abstract (Journal) › peer-review
• 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. 279

  Research 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, Plecko, B., Horber, V., Bernert, G., Husain, R. A., Rauscher, C. (Co-author), Trollmann, R., Garbade, S. F., Hahn, A., von der Hagen, M. & Kaindl, A. M., 2022, In: LANCET CHILD & ADOLESCENT HEALTH. 6, 1, p. 17-27

  Research output: Contribution to journal › Original Article › peer-review
  80 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. 106917

  Research output: Contribution to journal › Original Article › peer-review
  6 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. 25-29

  Research 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
• 2020

  Delineating the phenotypic spectrum of STX1B associated epilepsy

  Schlogl, M., Krenn, M., Pataraia, E., Schroder, S., Mayr, J. A., Rauscher, C., Kotzot, D., Zimprich, F., Meitinger, T. & Wagner, M., 2020, In: EUROPEAN JOURNAL OF HUMAN GENETICS . 28, SUPPL 1, p. 390-390

  Research output: Contribution to journal › Abstract (Journal) › peer-review
• 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. 278-283

  Research 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, Haack, T. B., 2017, In: BRAIN . 140, Pt 2, p. 279-286

  Research output: Contribution to journal › Original Article › peer-review

• Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschatter-Tonz syndrome caused by a ROGDI-gene deletion

  Morscher, R. J. (First author), Rauscher, C. (Co-author), Sperl, W. (Co-author) & Rittinger, O., 2017, In: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. 50, p. 118-120

  Research output: Contribution to journal › Case report › peer-review
  6 Citations (Web of Science)
• 2016

  Youth Medicine Pediatrics Headache in Adolescents Conversation with Dr. Christian Rauscher, University Clinic for Child and Youth Therapy, Paracelsus Private Medical University of Salzburg

  Rauscher, C. (First author), 2016, In: PÄDIATRIE UND PÄDOLOGIE. 51, 5, p. 196-197

  Research output: Contribution to journal › Editorial › peer-review
• 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. 40

  Research 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. 130-134

  Research 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. 515-523

  Research 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. 358-361

  Research output: Contribution to journal › Original Article › peer-review
  18 Citations (Web of Science)

• THE DIFFICULTY IN THE DIAGNOSIS OF PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY IN 6 HETEROZYGOUS FEMALES WITH NOVEL PDHA1 MUTATIONS

  Sperl, W., Freisinger, P., Trollmann, R., Koch, J., Rauscher, C., Zimmermann, F., Volkmar, B., Ahting, U., Rolinski, B. & Mayr, J. A., 2011, In: JOURNAL OF INHERITED METABOLIC DISEASE . 34, p. S167-S167

  Research output: Contribution to journal › Abstract (Journal) › peer-review
• 2010

  DIFFICULTY IN THE DIAGNOSIS OF A GIRL WITH PYRUVATE DEHYDROGENASE DEFICIENCY AND A LARGE X-CHROMOSOMAL DELETION

  Sperl, W., Koch, J., Rauscher, C., Zimmermann, F., Zschocke, J., Fauth, C. & Mayr, J. A., 2010, In: JOURNAL OF INHERITED METABOLIC DISEASE . 33, p. S89-S89

  Research output: Contribution to journal › Abstract (Journal) › peer-review

• Difficulty in the diagnosis of X-linked PDHC deficiency due to a large deletion affecting the PDHA1 gene

  Sperl, W., Koch, J., Rauscher, C., Zschocke, J., Fauth, C. & Mayr, J. A., 2010, In: MITOCHONDRION. 10, 2, p. 241-241

  Research output: Contribution to journal › Abstract (Journal) › peer-review

• 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, Farrell, K., Forsyth, R., de Goede, C., Gross, S., Grunewald, S., Holthausen, H., Jayawant, S., Lachlan, K., Laugel, V., Leppig, K., Lim, M., Mancini, G., Della Marina, A., Martorell, L., McMenamin, J., Meuwissen, M., Mundy, H., Nilsson, N., Panzer, A., Poll-The, B., Rauscher, C. (Co-author), Rouselle, C., Sandvig, I., Scheffner, T., Sheridan, E., Simpson, N., Sykora, P., Tomlinson, R., Trounce, J., Webb, D., Weschke, B., Scheffer, H. & Willemsen, M., 2010, In: BRAIN . 133, p. 655-670

  Research 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. 30-34

  Research 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. 718-724

  Research output: Contribution to journal › Original Article › peer-review
  50 Citations (Web of Science)
• 2009

  Pontine tegmental cap dysplasia: the severe end of the clinical spectrum.

  Rauscher, C. (First author), Poretti, A., Neuhann, T. M., Forstner, R. (Co-author), Hahn, G., Koch, J. (Co-author), Tinschert, S. & Boltshauser, E., 2009, In: NEUROPEDIATRICS . 40, 1, p. 43-46

  Research output: Contribution to journal › Case report › peer-review
  19 Citations (Web of Science)
• 2008

  Complex I deficiency due to a NDUFAF2 defect in a boy with acute fulminant course of Leigh disease and typical brainstem lesions

  Sped, W., Prokisch, H., Boltshauser, E., Koch, J., Rauscher, C., Radauer, W., Forstner, R., Freisinger, P., Rolinski, B., Rodenburg, R. & Mayr, J. A., 2008, In: JOURNAL OF INHERITED METABOLIC DISEASE . 31, p. 53-53

  Research output: Contribution to journal › Abstract (Journal) › peer-review

• Tissue-specific pyruvate dehydrogenase deficiency in a boy with novel mutations in the E1 beta subunit

  Mayr, J. A., Koch, J., Rauscher, C., Bernert, G. & Sperl, W., 2008, In: JOURNAL OF INHERITED METABOLIC DISEASE . 31, p. 54-54

  Research output: Contribution to journal › Abstract (Journal) › peer-review
• 2007

  MRI findings in three patients with PDHC (E1 alpha) deficiency and ketogenic diet

  Sperl, W., Koch, J., Rauscher, C. & Mayr, J. A., 2007, In: JOURNAL OF INHERITED METABOLIC DISEASE . 30, p. 76-76

  Research output: Contribution to journal › Abstract (Journal) › peer-review
• 2002

  Cochlear Implantation in MELAS-Syndrome: A case report.

  Sperl, W., Mayr, J. A., Moser, G., Supersberger, H., Albegger, K. & Rauscher, C., 2002, In: JOURNAL OF INHERITED METABOLIC DISEASE . 25, Suppl 1, p. 81-81

  Research output: Contribution to journal › Abstract (Journal) › peer-review
• 2001

  A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies.

  Trinka, E. (First author), Rauscher, C. (Co-author), Nagler, M., Moroder, T., Ladurner, G., Irnberger, E., Sperl, W. (Co-author) & Pilz, P., 2001, In: EPILEPSIA. 42, 7, p. 950-953

  Research output: Contribution to journal › Case report › peer-review
  21 Citations (Web of Science)