Fearns, N.* ; Wagner, M. ; Borggräfe, I.* ; Kunz, M.* ; Rémi, J.* ; Vollmar, C.*
Good outcome of resective epilepsy surgery in a one-year-old child with drug-resistant focal epilepsy with a novel pathogenic COL4A1 mutation.
Neuropediatrics, DOI: 10.1055/a-2236-7066 (2024)
Gebert, J.* ; Brunet, T.* ; Wagner, M. ; Rath, J.* ; Aull-Watschinger, S.* ; Pataraia, E.* ; Krenn, M.*
A Homozygous PTRHD1 missense variant (p.Arg122Gln) in an individual with intellectual disability, generalized epilepsy, and juvenile parkinsonism.
Neuropediatrics 55, 209-212 (2024)
Jacob, M.* ; Brugger, M.* ; Andres, S.* ; Wagner, M. ; Graf, E.* ; Berutti, R. ; Tilch, E. ; Pavlov, M. ; Mayerhanser, K.* ; Hoefele, J.* ; Meitinger, T.* ; Winkelmann, J. ; Brunet, T.*
Genome sequencing for cases unsolved by exome sequencing: Identifying a single-exon deletion in TBCK in a case from 30 years ago.
Neuropediatrics, DOI: 10.1055/s-0044-1782680 (2024)
Borggraefe, I.* ; Wagner, M.
Precision therapy in KCNQ2-related epilepsy.
Neuropediatrics 54, 295-296 (2023)
Thiels, C.* ; Lücke, T.* ; Rothoeft, T.* ; Lukas, C.* ; Nguyen, H.P.* ; von Kleist-Retzow, J.C.* ; Prokisch, H. ; Grimmel, M.* ; Haack, T.* ; Hoffjan, S.*
ACOX1 gain-of-function variant in two German pediatric patients, in one case mimicking autoimmune inflammatory disease.
Neuropediatrics, DOI: 10.1055/s-0043-1776013 (2023)
Švantnerová, J.* ; Minár, M.* ; Radová, S.* ; Kolníková, M.* ; Vlkovič, P.* ; Zech, M.
ASXL3 de novo variant-related neurodevelopmental disorder presenting as dystonic cerebral palsy.
Neuropediatrics 53, 361-365 (2022)
Trieschmann, G.* ; Wach, K.* ; Abel, M.* ; Tilgner, E.* ; Berweck, S.* ; Zech, M.
A novel homozygous PDE 10A variant leading to infantile onset hyperkinesia.
Neuropediatrics 53, 386-387 (2022)
Bölsterli, B.K.* ; Boltshauser, E.* ; Distelmaier, F.* ; Geis, T.* ; Klabunde-Cherwon, A.* ; Kottke, R.* ; Makowski, C.* ; Mayr, J.A.* ; O’Gorman Tuura, R.L.* ; Prokisch, H. ; Steinbruecker, K.* ; Steinfeld, R.* ; Syrbe, S.* ; Wagner, M. ; Ziegler, A.* ; Wortmann, S.*
Mitochondrial transporter defects: Successful treatment with ketogenic diet therapy
Vortrag: (2021)
Schmid, S.J.* ; Wagner, M. ; Goetz, C.* ; Makowski, C.* ; Freisinger, P.* ; Berweck, S.* ; Mall, V.* ; Burdach, S.* ; Juenger, H.*
A de novo dominant negative mutation in DNM1L causes sudden onset status epilepticus with subsequent epileptic encephalopathy.
Neuropediatrics 50, 197-201 (2019)
Stendel, C.* ; Wagner, M. ; Rudolph, G.* ; Klopstock, T.*
Gillespie's syndrome with minor cerebellar involvement and no intellectual disability associated with a novel ITPR1 mutation: Report of a case and literature review.
Neuropediatrics 50, 382-386 (2019)
Alhaddad, B.* ; Schossig, A.* ; Haack, T.B. ; Kovács-Nagy, R.* ; Braunisch, M.C.* ; Makowski, C.* ; Senderek, J.* ; Vill, K.* ; Müller-Felber, W.* ; Strom, T.M. ; Krabichler, B.* ; Freisinger, P.* ; Deshpande, C.* ; Polster, T.* ; Wolf, N.I.* ; Desguerre, I.* ; Wörmann, F.* ; Rötig, A.* ; Ahting, U.* ; Kopajtich, R. ; Prokisch, H. ; Meitinger, T. ; Feichtinger, R.G.* ; Mayr, J.A.* ; Jungbluth, H.* ; Hubmann, M.* ; Zschocke, J.* ; Distelmaier, F.* ; Koch, J.*
PRUNE1 deficiency: Expanding the clinical and genetic spectrum.
Neuropediatrics 49, 330-338 (2018)
Kovács-Nagy, R.* ; Morin, G.* ; Al Nouri, M.* ; Brandau, O.* ; Saadi, N.W.* ; Nouri, M.A.* ; van den Broek, F.* ; Prokisch, H. ; Mayr, J.A.* ; Wortmann, S.B.
HTRA2 defect: A recognizable inborn error of metabolism with 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy-report of 11 patients.
Neuropediatrics 49, 373-378 (2018)
Wagner, M. ; Gusic, M. ; Günthner, R.* ; Alhaddad, B.* ; Kovács-Nagy, R.* ; Makowski, C.* ; Baumeister, F.A.M.* ; Strom, T.M. ; Meitinger, T. ; Prokisch, H. ; Wortmann, S.B.
Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy.
Neuropediatrics 49, 59-62 (2018)
Westphal, D.S. ; Riedhammer, K.M.* ; Kovács-Nagy, R. ; Meitinger, T. ; Hoefele, J.* ; Wagner, M.
A de novo missense variant in POU3F2 identified in a child with global developmental delay.
Neuropediatrics 49, 401-404 (2018)
Sequeira, S.* ; Rodrigues, M.* ; Jacinto, S.* ; Wevers, R.A.* ; Wortmann, S.B.
MEGDEL syndrome: Expanding the phenotype and new mutations.
Neuropediatrics 48, 382-384 (2017)
Wortmann, S.B. ; Mayr, J.A.* ; Nuoffer, J.M.* ; Prokisch, H. ; Sperl, W.*
A guideline for the diagnosis of pediatric mitochondrial disease: The value of muscle and skin biopsies in the genetics era.
Neuropediatrics 48, 309-314 (2017)
Jung, N.H.* ; Brix, O.* ; Bernius, P.* ; Schroeder, A.S.* ; Kluger, G.J.* ; Beyerlein, A. ; Weir, S.* ; von Kries, R.* ; Narayanan, U.G.* ; Mall, V.* ; Berweck, S.*
German translation of the caregiver priorities and child health index of life with disabilities questionnaire: Test-retest reliability and correlation with gross motor function in children with cerebral palsy.
Neuropediatrics 45, 289-293 (2014)
Herzer, M. ; Koch, J.* ; Prokisch, H. ; Rodenburg, R.* ; Rauscher, C.* ; Radauer, W.* ; Forstner, R.* ; Pilz, P.* ; Rolinski, B.* ; Freisinger, P.* ; Mayr, J.A.* ; Sperl, W.*
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
Neuropediatrics 41, 30-34 (2010)
Baumeister, F.A.M.* ; Auer, D.P.* ; Hörtnagel, K. ; Freisinger, P.* ; Meitinger, T.
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.
Neuropediatrics 36, 221-222 (2005)
Bugiani, M.* ; Moroni, I.* ; Bizzi, A.* ; Nardocci, N.* ; Bettecken, T. ; Gärtner, J.* ; Uziel, G.*
Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.
Neuropediatrics 34, 211-214 (2003)