Detalhe da pesquisa
1.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
2.
Parenting stress in families of children with disabilities: Impact of type of disability and assessment of attending paediatricians.
Child Care Health Dev
; 50(1): e13193, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908180
3.
Brain deposition of gadobutrol in children-a cross-sectional and longitudinal MRI T1 mapping study.
Eur Radiol
; 33(7): 4580-4588, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520178
4.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202461
5.
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.
Neuropediatrics
; 53(6): 432-435, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35817355
6.
Unusual mechanical failures of intrathecal baclofen pump systems: symptoms, signs, and trouble shooting.
Childs Nerv Syst
; 37(8): 2597-2604, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33834279
7.
Quantitative T1 mapping of the normal brain from early infancy to adulthood.
Pediatr Radiol
; 51(3): 450-456, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068131
8.
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
J Neuroinflammation
; 17(1): 262, 2020 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32883358
9.
The "Ivy-Sign" in Moyamoya Disease-From MRI Pattern to Diagnosis.
Neuropediatrics
; 51(4): 241-244, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32232811
10.
Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency.
Neuropediatrics
; 51(1): 53-56, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31541997
11.
Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.
Neuropediatrics
; 51(1): 22-29, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31505688
12.
Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye.
Neuropediatrics
; 51(3): 192-197, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32045938
13.
The Role of TRPV1 in Febrile Seizure Susceptibility: Inflammation, Respiratory Alkalosis and Seizure Threshold.
Am J Respir Cell Mol Biol
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701493
14.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain
; 140(9): 2322-2336, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050398
15.
Optimizing parents' performance in anticonvulsant rescue medication administration.
Epilepsy Behav
; 84: 37-43, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29747033
16.
Experiences, expectations, and fears of adolescents with epilepsy or bronchial asthma.
Eur J Pediatr
; 177(10): 1451-1457, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967923
17.
Pre-anesthetic assessment with three core questions for the detection of obstructive sleep apnea in childhood: An observational study.
BMC Anesthesiol
; 18(1): 25, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29458333
18.
Severe gyration and migration disorder in fetofetal transfusion syndrome: two case reports and a review of the literature on the neurological outcome of children with lesions on neuroimaging.
Childs Nerv Syst
; 34(1): 155-163, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28971247
19.
How do Parents Perceive the Initial Medical Consultation on their Child's Developmental Disorder?
Klin Padiatr
; 230(1): 44-49, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29258157
20.
[Interdisciplinary Concepts of Paediatrics and Clinical Pharmacy to Optimise Anticonvulsant Treatment]. / Interdisziplinäre Konzepte von Pädiatrie und Klinischer Pharmazie zur Optimierung der Antikonvulsivatherapie.
Klin Padiatr
; 230(1): 5-12, 2018 01.
Artigo
em Alemão
| MEDLINE | ID: mdl-29258161