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Ataxia telangiectasia alters the ApoB and reelin pathway.
- Published in:
- Neurogenetics, 2018, v. 19, n. 4, p. 237, doi. 10.1007/s10048-018-0557-5
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- Publication type:
- Article
Spectroscopy of untreated pilocytic astrocytomas: do children and adults share some metabolic features in addition to their morphologic similarities?
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- Child's Nervous System, 2010, v. 26, n. 6, p. 801, doi. 10.1007/s00381-009-1062-9
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- Article
Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.
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- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02495
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- Article
THE CORRELATION BETWEEN MAGNETIC RESONANCE ANGIOGRAPHY FINDINGS AND THE AETIOLOGY OF CHILDHOOD ARTERIAL ISCHEMIC STROKE.
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- Pedijatrija Danas: Pediatrics Today, 2014, v. 10, n. 2, p. 147, doi. 10.5457/p2005-114.100
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- Article
MR imaging in neuroborreliosis of the cervical spinal cord.
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- 2004
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- Publication type:
- journal article
Retrospectively diagnosing congenital cytomegalovirus infections in symptomatic infants is challenging.
- Published in:
- 2021
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- Publication type:
- journal article
The incidence and type of cancer in patients with ataxia‐telangiectasia via a retrospective single‐centre study.
- Published in:
- British Journal of Haematology, 2021, v. 194, n. 5, p. 879, doi. 10.1111/bjh.17736
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- Article
Abusive head trauma: experience improves diagnosis.
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- Neuroradiology, 2021, v. 63, n. 3, p. 417, doi. 10.1007/s00234-020-02564-z
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- Publication type:
- Article
Extracerebellar MRI—Lesions in Ataxia Telangiectasia Go Along with Deficiency of the GH/IGF-1 Axis, Markedly Reduced Body Weight, High Ataxia Scores and Advanced Age.
- Published in:
- Cerebellum, 2010, v. 9, n. 2, p. 190, doi. 10.1007/s12311-009-0138-0
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- Article
Final Validation of the Quality of Life after Brain Injury for Children and Adolescents (QOLIBRI-KID/ADO) Questionnaire.
- Published in:
- Children, 2024, v. 11, n. 4, p. 438, doi. 10.3390/children11040438
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- Article
Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation.
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- European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1399, doi. 10.1007/s00431-013-2098-0
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- Article
Rare brain biopsy findings in a first ADEM-like event of pediatric MS: histopathologic, neuroradiologic and clinical features.
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- Journal of Neural Transmission, 2011, v. 118, n. 9, p. 1311, doi. 10.1007/s00702-011-0609-6
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- Article
Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis.
- Published in:
- 2001
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- Publication type:
- journal article
Corrigendum: Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1372640
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- Publication type:
- Article
Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2023.1266828
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- Publication type:
- Article
Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1266828
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- Publication type:
- Article
Health-Related Quality of Life after Pediatric Traumatic Brain Injury: A Quantitative Comparison between Children's and Parents' Perspectives of the QOLIBRI-KID/ADO Questionnaire.
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- Journal of Clinical Medicine, 2023, v. 12, n. 23, p. 7439, doi. 10.3390/jcm12237439
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- Publication type:
- Article
Quality of Life after Brain Injury in Children and Adolescents (QOLIBRI-KID/ADO)—The First Disease-Specific Self-Report Questionnaire after Traumatic Brain Injury.
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- Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 4898, doi. 10.3390/jcm12154898
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- Publication type:
- Article
Facial Emotion Recognition in Patients with Juvenile Myoclonic Epilepsy.
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- Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4101, doi. 10.3390/jcm12124101
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- Publication type:
- Article
A Multidimensional Approach to Assessing Factors Impacting Health-Related Quality of Life after Pediatric Traumatic Brain Injury.
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- Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 3895, doi. 10.3390/jcm12123895
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- Publication type:
- Article
Psychometric Properties of the German Version of the Rivermead Post-Concussion Symptoms Questionnaire in Adolescents after Traumatic Brain Injury and Their Proxies.
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- Journal of Clinical Medicine, 2023, v. 12, n. 1, p. 319, doi. 10.3390/jcm12010319
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- Publication type:
- Article
Trends and Differences in Status Epilepticus Treatment of Children and Adults Over 10 Years: A Comparative Study of Medical Records (2012–2021) from a University Hospital in Germany.
- Published in:
- CNS Drugs, 2023, v. 37, n. 11, p. 993, doi. 10.1007/s40263-023-01049-w
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- Publication type:
- Article
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2969, doi. 10.1002/ajmg.a.62900
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- Publication type:
- Article
Novel N-terminal truncating CLCN1 mutation in severe becker disease.
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- Muscle & Nerve, 2014, v. 50, n. 5, p. 866, doi. 10.1002/mus.24312
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- Article
Description of a novel c.374 G>A mutation in becker disease.
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- Muscle & Nerve, 2013, v. 47, n. 4, p. 616, doi. 10.1002/mus.23698
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- Publication type:
- Article
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.
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- Epilepsia (Series 4), 2024, v. 65, n. 1, p. 115, doi. 10.1111/epi.17799
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- Publication type:
- Article
A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.
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- Epilepsia (Series 4), 2019, v. 60, n. 8, p. 1697, doi. 10.1111/epi.16099
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- Publication type:
- Article
Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians.
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- Epilepsia (Series 4), 2016, v. 57, n. 4, p. 612, doi. 10.1111/epi.13337
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- Publication type:
- Article
Frontal and thalamic changes of GABA concentration indicate dysfunction of thalamofrontal networks in juvenile myoclonic epilepsy.
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- Epilepsia (Series 4), 2014, v. 55, n. 7, p. 1030, doi. 10.1111/epi.12656
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- Publication type:
- Article
ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/462592
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- Publication type:
- Article
Leptomeningeal metastases in pediatrics: magnetic resonance image manifestations and correlation with cerebral spinal fluid cytology.
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- Pediatrics International, 2010, v. 52, n. 4, p. 541, doi. 10.1111/j.1442-200X.2010.03171.x
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- Article
Peripheral polyneuropathy in children and young adults with ataxia–telangiectasia.
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- European Journal of Neurology, 2023, v. 30, n. 12, p. 3842, doi. 10.1111/ene.16028
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- Publication type:
- Article
Dystonia With Secondary Contractures: A Psychogenic Movement Disorder Mimicking Its Neurological Counterpart.
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- Journal of Child Neurology, 2008, v. 23, n. 11, p. 1316, doi. 10.1177/0883073808318060
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- Article
Midline Developmental Anomalies in Down Syndrome.
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- Journal of Child Neurology, 2002, v. 17, n. 6, p. 460, doi. 10.1177/088307380201700614
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- Publication type:
- Article
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.
- Published in:
- 2021
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- Publication type:
- journal article
Applicability and clinical utility of the German rivermead post-concussion symptoms questionnaire in proxies of children after traumatic brain injury: an instrument validation study.
- Published in:
- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03587-2
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- Publication type:
- Article