Detalhe da pesquisa
1.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A
; 120(22): e2211087120, 2023 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216524
2.
Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome.
Neuropediatrics
; 55(1): 9-15, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798920
3.
Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents.
Neuropediatrics
; 54(1): 14-19, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543183
4.
Epidemiology of aplasia cutis congenita: A population-based study in Europe.
J Eur Acad Dermatol Venereol
; 37(3): 581-589, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36300660
5.
The SARS-CoV-2 pandemic in Germany may represent the sum of a large number of local but independent epidemics each initiated by individuals aged 10-19 years, middle-aged males, or elderly individuals.
J Med Virol
; 94(7): 3087-3095, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35229302
6.
Enhancing the Follow-up Assessment of Very Preterm Children with Regard to 5-Year IQ Considering Socioeconomic Status.
Z Geburtshilfe Neonatol
; 226(6): 405-415, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981549
7.
Retarded decline of the share of SARS-CoV-2-positive children in North Rhine-Westphalia, Germany.
J Med Virol
; 93(4): 2039-2045, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32986242
8.
Molecular pathophysiology of human MICU1 deficiency.
Neuropathol Appl Neurobiol
; 47(6): 840-855, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33428302
9.
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis.
Ann Neurol
; 88(1): 148-159, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32314416
10.
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
11.
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Clin Genet
; 98(4): 408-412, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720325
12.
Type 1 diabetes and epilepsy in childhood and adolescence: Do glutamic acid decarboxylase autoantibodies play a role? Data from the German/Austrian/Swiss/Luxembourgian DPV Registry.
Pediatr Diabetes
; 21(5): 766-773, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333480
13.
Impact of Hippotherapy on Gross Motor Function and Quality of Life in Children with Bilateral Cerebral Palsy: A Randomized Open-Label Crossover Study.
Neuropediatrics
; 49(3): 185-192, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29486504
14.
Febrile Infection-Related Epilepsy Syndrome: Clinical Review and Hypotheses of Epileptogenesis.
Neuropediatrics
; 48(1): 5-18, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27919115
15.
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.
Neuropediatrics
; 48(2): 111-114, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28024309
16.
Glenoid morphology in light of anatomical and reverse total shoulder arthroplasty: a dissection- and 3D-CT-based study in male and female body donors.
BMC Musculoskelet Disord
; 18(1): 9, 2017 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28068966
17.
Oligoclonal bands predict multiple sclerosis in children with optic neuritis.
Ann Neurol
; 77(6): 1076-82, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820181
18.
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
J Neurol Neurosurg Psychiatry
; 87(8): 897-905, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26645082
19.
Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).
Muscle Nerve
; 54(2): 328-33, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27015314
20.
SAMHD1 prevents autoimmunity by maintaining genome stability.
Ann Rheum Dis
; 74(3): e17, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24445253