|
| 36308527 | The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. | J Neurol | 2023 |
| 37104989 | Learning about neurodiversity from parents - Auditory gestalt perception of prelinguistic vocalisations. | Res Dev Disabil | 2023 |
| 34675124 | <i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. | J Med Genet | 2022 |
| 35854315 | A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ÿ-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy. | Orphanet J Rare Dis | 2022 |
| 35560436 | A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia. | Mov Disord | 2022 |
| 34673643 | Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy. | Horm Res Paediatr | 2021 |
| 33511595 | Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition. | Neuropediatrics | 2021 |
| 34987501 | Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel <i>SH2D1A</i> Mutation. | Front Immunol | 2021 |
| 32487720 | Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy. | Neurol Neuroimmunol Neuroinflamm | 2020 |
| 30913570 | Two Cases of Pediatric AQP4-Antibody Positive Neuromyelitis Optica Spectrum Disorder Successfully Treated with Tocilizumab. | Neuropediatrics | 2019 |
| 29181627 | Pompe disease in Austria: clinical, genetic and epidemiological aspects. | J Neurol | 2018 |
| 26849438 | Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. | PLoS One | 2016 |
| 27514944 | Behavioural biomarkers of typical Rett syndrome: moving towards early identification. | Wien Med Wochenschr | 2016 |
| 27459870 | 50Â years of Rett syndrome, 1966-2016 : From parents to clinicians to scientists, and for parents, clinicians, and scientist. | Wien Med Wochenschr | 2016 |
| 26026149 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. | Elife | 2015 |
| 26111941 | A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience. | Muscle Nerve | 2015 |
| 24528171 | Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome. | Dev Med Child Neurol | 2014 |
| 24108130 | New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. | J Biol Chem | 2013 |
| 21892769 | SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. | J Neurol | 2012 |
| 21654506 | Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. | J Dev Behav Pediatr | 2011 |
| 20598586 | Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experience. | Seizure | 2010 |
| 20573179 | Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. | Dev Med Child Neurol | 2010 |
| 20660029 | Tumor-induced hypophosphatemic rickets in an adolescent boy--clinical presentation, diagnosis, and histological findings in growth plate and muscle tissue. | J Clin Endocrinol Metab | 2010 |
| 20631190 | Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. | J Neurosci | 2010 |
| 19724012 | MECP2 mutation in one of Rett's original patients. | J Med Genet | 2009 |
| 21686692 | Isolated cytochrome c oxidase deficiency as a cause of MELAS. | BMJ Case Rep | 2009 |
| 18245391 | Isolated cytochrome c oxidase deficiency as a cause of MELAS. | J Med Genet | 2008 |
| 17068770 | Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. | Hum Mutat | 2007 |
| 17690074 | Methylation status in females with rett syndrome. | J Child Neurol | 2007 |
| 16432766 | [Psychosocial adjustment, relationship and self-concept in siblings of children with idiopathic epilepsy syndromes]. | Klin Padiatr | 2006 |
| 17092458 | Behavioral and emotional problems in children with epilepsy. | J Child Neurol | 2006 |
| 16032547 | [Hyperekplexia -- a treatable neuropediatric disease]. | Klin Padiatr | 2005 |
| 16167271 | [Family dynamics and chronic illness: children with diabetes in the context of their families]. | Klin Padiatr | 2005 |
| 16040334 | Monozygotic twins discordant for epilepsy differ in the levels of potentially pathogenic autoantibodies and cytokines. | Autoimmunity | 2005 |
| 15324828 | Changes in body mass index during long-term topiramate therapy in paediatric epilepsy patients--a retrospective analysis. | Seizure | 2004 |
| 15559370 | Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomy. | Clin Dev Immunol | 2004 |
| 12718809 | Hemolytic-uremic syndrome associated with enterohemorrhagic Escherichia coli O26:H infection and consumption of unpasteurized cow's milk. | Int J Infect Dis | 2003 |
| 11866361 | Self-concept in male and female adolescents with congenital heart disease. | Clin Pediatr (Phila) | 2002 |
| 10805192 | Familial idiopathic West syndrome. | J Child Neurol | 2000 |
| 10221450 | Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice. | Anat Embryol (Berl) | 1999 |
| 9686825 | Kinking and stenosis of the carotid artery associated with homolateral ischaemic brain infarction in a patient treated with cyclosporin A. | Eur J Pediatr | 1998 |
| 9197517 | Auditory evoked potentials in young patients with Down syndrome. Event-related potentials (P3) and histaminergic system. | Brain Res Cogn Brain Res | 1997 |
| 8733899 | Hematologic manifestations and impaired liver synthetic function during valproate monotherapy. | Brain Dev | 1996 |
| 8734022 | Prognosis of childhood epilepsy in newly referred patients. | J Child Neurol | 1996 |
| 9036411 | [Function and structure of families with chronically ill children]. | Psychother Psychosom Med Psychol | 1996 |
| 8908383 | Brainstem auditory evoked potentials and visually evoked potentials in young patients with IDDM. | Diabetes Care | 1996 |