Detalhe da pesquisa
1.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293053
2.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Genome Med
; 16(1): 72, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38811945
3.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology
; 101(9): e879-e891, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407264
4.
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Eur J Pediatr
; 171(11): 1611-8, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22729243
5.
Mechanical thrombectomy for acute ischemic stroke in COVID-19 patients: multicenter experience in 111 cases.
J Neurointerv Surg
; 14(9): 858-862, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35292572
6.
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Neurol Neuroimmunol Neuroinflamm
; 9(6)2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36229191
7.
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
Eur J Paediatr Neurol
; 35: 111-122, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34673401
8.
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.
Expert Rev Clin Pharmacol
; 14(6): 749-760, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792454
9.
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.
CNS Drugs
; 35(10): 1107-1122, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34275102
10.
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.
Orphanet J Rare Dis
; 16(1): 282, 2021 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34154622
11.
Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.
Eur J Pediatr
; 169(5): 569-72, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19813022
12.
Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.
Eur J Pediatr
; 169(12): 1523-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20652311
13.
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Orphanet J Rare Dis
; 14(1): 96, 2019 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053163
14.
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
JAMA Neurol
; 76(3): 342-350, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30575854