Detalhe da pesquisa
1.
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.
Epilepsia
; 65(1): 115-126, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37846648
2.
Effects of liberalising visiting policy and staff education on parental visiting duration in the neonatal unit.
Acta Paediatr
; 113(4): 684-691, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38226419
3.
Multidimensional assessment of infant, parent and staff outcomes during a family centered care enhancement project in a tertiary neonatal intensive care unit: study protocol of a longitudinal cohort study.
BMC Pediatr
; 23(1): 344, 2023 07 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37420180
4.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol
; 90(1): 143-158, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33999436
5.
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Neuropediatrics
; 53(1): 39-45, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34852371
6.
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.
Epilepsia
; 60(8): 1697-1710, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31247127
7.
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Mol Biol Rep
; 46(4): 4507-4516, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31270756
8.
Counseling and social work for people with epilepsy in Germany: A cross-sectional multicenter study on demand, frequent content, patient satisfaction, and burden-of-disease.
Epilepsy Behav
; 92: 114-120, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30654230
9.
Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.
Epilepsy Behav
; 98(Pt A): 88-95, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31301455
10.
[Acceptance, demand, reasons for consultation and outcome of counseling on epilepsy in Hesse and Lower Franconia]. / Akzeptanz, Bedarf, Konsultationsgründe und Beratungsoutcome von Epilepsieberatung in Hessen und Unterfranken.
Nervenarzt
; 90(8): 832-839, 2019 Aug.
Artigo
Alemão
| MEDLINE | ID: mdl-30694366
11.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
PLoS Genet
; 11(5): e1005226, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25950944
12.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Neurogenetics
; 18(4): 185-194, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28842795
13.
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Am J Med Genet A
; 173(4): 959-965, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28328125
14.
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Neuropediatrics
; 48(6): 451-455, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28411587
15.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet
; 23(22): 6069-80, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24939913
16.
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol
; 77(6): 972-86, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25726841
17.
Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians.
Epilepsia
; 57(4): 612-20, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26899504
18.
Epilepsy in Neuropediatrics.
Neuropediatrics
; 52(2): 71-72, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33742431
19.
From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.
Neuropediatrics
; 47(1): 5-11, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26569157
20.
Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.
Neuropediatrics
; 47(3): 197-201, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27064331