PuSH - Publication Server of Helmholtz Zentrum München

Journal browsing

22 Records found.
Zum Exportieren der Ergebnisse bitte einloggen.
▮◀ ◀◀ 1 ... 2 ... ▶▶ ▶▮
Lay all publications on this page into basket
1.
Engel, J.M.* ; Dzinovic, I. ; Zech, M. & Janzarik, W.G.*: Novel pathogenic GCH1 variant in familial Dopa-responsive dystonia. Neuropediatrics, DOI: 10.1055/a-2747-7443 (2025)
2.
Oberlack, A.* & Wagner, M.: Genetic variants and disease mechanisms - Lessons from monogenic childhood epilepsies. Neuropediatrics, DOI: 10.1055/a-2731-5130 (2025)
3.
Fearns, N.* et al.: 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)
4.
Gebert, J.* et al.: A Homozygous PTRHD1 missense variant (p.Arg122Gln) in an individual with intellectual disability, generalized epilepsy, and juvenile parkinsonism. Neuropediatrics 55, 209-212 (2024)
5.
Jacob, M.* et al.: 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)
6.
Borggraefe, I.* & Wagner, M.: Precision therapy in KCNQ2-related epilepsy. Neuropediatrics 54, 295-296 (2023)
7.
Thiels, C.* et al.: 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)
8.
Švantnerová, J.* et al.: ASXL3 de novo variant-related neurodevelopmental disorder presenting as dystonic cerebral palsy. Neuropediatrics 53, 361-365 (2022)
9.
Trieschmann, G.* et al.: A novel homozygous PDE 10A variant leading to infantile onset hyperkinesia. Neuropediatrics 53, 386-387 (2022)
10.
Bölsterli, B.K.* et al.: Mitochondrial transporter defects: Successful treatment with ketogenic diet therapy Vortrag: (2021)
11.
Schmid, S.J.* et al.: A de novo dominant negative mutation in DNM1L causes sudden onset status epilepticus with subsequent epileptic encephalopathy. Neuropediatrics 50, 197-201 (2019)
12.
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)
13.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
14.
Kovács-Nagy, R.* et al.: 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)
15.
Wagner, M. et al.: Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)
16.
Westphal, D.S. et al.: A de novo missense variant in POU3F2 identified in a child with global developmental delay. Neuropediatrics 49, 401-404 (2018)
17.
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)
18.
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)
19.
Jung, N.H.* et al.: 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)
20.
Herzer, M. et al.: Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. Neuropediatrics 41, 30-34 (2010)
▮◀ ◀◀ 1 ... 2 ... ▶▶ ▶▮